NM_007294.4(BRCA1):c.2082C>T (p.Ser694=) AND Breast-ovarian cancer, familial, susceptibility to, 1
- Germline classification:
- Benign (12 submissions)
- Last evaluated:
- Jan 12, 2015
- Review status:
- 3 stars out of maximum of 4 starsreviewed by expert panel
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000111763.24
Allele description [Variation Report for NM_007294.4(BRCA1):c.2082C>T (p.Ser694=)]
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=)
- Gene:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.2082C>T (p.Ser694=)
- Other names:
- 2201C/T; S694S; 2201 C>T; NP_009225.1:p.Ser694=
- HGVS:
- NC_000017.11:g.43093449G>A
- NG_005905.2:g.124535C>T
- NM_001407571.1:c.1869C>T
- NM_001407581.1:c.2082C>T
- NM_001407582.1:c.2082C>T
- NM_001407583.1:c.2082C>T
- NM_001407585.1:c.2082C>T
- NM_001407587.1:c.2079C>T
- NM_001407590.1:c.2079C>T
- NM_001407591.1:c.2079C>T
- NM_001407593.1:c.2082C>T
- NM_001407594.1:c.2082C>T
- NM_001407596.1:c.2082C>T
- NM_001407597.1:c.2082C>T
- NM_001407598.1:c.2082C>T
- NM_001407602.1:c.2082C>T
- NM_001407603.1:c.2082C>T
- NM_001407605.1:c.2082C>T
- NM_001407610.1:c.2079C>T
- NM_001407611.1:c.2079C>T
- NM_001407612.1:c.2079C>T
- NM_001407613.1:c.2079C>T
- NM_001407614.1:c.2079C>T
- NM_001407615.1:c.2079C>T
- NM_001407616.1:c.2082C>T
- NM_001407617.1:c.2082C>T
- NM_001407618.1:c.2082C>T
- NM_001407619.1:c.2082C>T
- NM_001407620.1:c.2082C>T
- NM_001407621.1:c.2082C>T
- NM_001407622.1:c.2082C>T
- NM_001407623.1:c.2082C>T
- NM_001407624.1:c.2082C>T
- NM_001407625.1:c.2082C>T
- NM_001407626.1:c.2082C>T
- NM_001407627.1:c.2079C>T
- NM_001407628.1:c.2079C>T
- NM_001407629.1:c.2079C>T
- NM_001407630.1:c.2079C>T
- NM_001407631.1:c.2079C>T
- NM_001407632.1:c.2079C>T
- NM_001407633.1:c.2079C>T
- NM_001407634.1:c.2079C>T
- NM_001407635.1:c.2079C>T
- NM_001407636.1:c.2079C>T
- NM_001407637.1:c.2079C>T
- NM_001407638.1:c.2079C>T
- NM_001407639.1:c.2082C>T
- NM_001407640.1:c.2082C>T
- NM_001407641.1:c.2082C>T
- NM_001407642.1:c.2082C>T
- NM_001407644.1:c.2079C>T
- NM_001407645.1:c.2079C>T
- NM_001407646.1:c.2073C>T
- NM_001407647.1:c.2073C>T
- NM_001407648.1:c.1959C>T
- NM_001407649.1:c.1956C>T
- NM_001407652.1:c.2082C>T
- NM_001407653.1:c.2004C>T
- NM_001407654.1:c.2004C>T
- NM_001407655.1:c.2004C>T
- NM_001407656.1:c.2004C>T
- NM_001407657.1:c.2004C>T
- NM_001407658.1:c.2004C>T
- NM_001407659.1:c.2001C>T
- NM_001407660.1:c.2001C>T
- NM_001407661.1:c.2001C>T
- NM_001407662.1:c.2001C>T
- NM_001407663.1:c.2004C>T
- NM_001407664.1:c.1959C>T
- NM_001407665.1:c.1959C>T
- NM_001407666.1:c.1959C>T
- NM_001407667.1:c.1959C>T
- NM_001407668.1:c.1959C>T
- NM_001407669.1:c.1959C>T
- NM_001407670.1:c.1956C>T
- NM_001407671.1:c.1956C>T
- NM_001407672.1:c.1956C>T
- NM_001407673.1:c.1956C>T
- NM_001407674.1:c.1959C>T
- NM_001407675.1:c.1959C>T
- NM_001407676.1:c.1959C>T
- NM_001407677.1:c.1959C>T
- NM_001407678.1:c.1959C>T
- NM_001407679.1:c.1959C>T
- NM_001407680.1:c.1959C>T
- NM_001407681.1:c.1959C>T
- NM_001407682.1:c.1959C>T
- NM_001407683.1:c.1959C>T
- NM_001407684.1:c.2082C>T
- NM_001407685.1:c.1956C>T
- NM_001407686.1:c.1956C>T
- NM_001407687.1:c.1956C>T
- NM_001407688.1:c.1956C>T
- NM_001407689.1:c.1956C>T
- NM_001407690.1:c.1956C>T
- NM_001407691.1:c.1956C>T
- NM_001407692.1:c.1941C>T
- NM_001407694.1:c.1941C>T
- NM_001407695.1:c.1941C>T
- NM_001407696.1:c.1941C>T
- NM_001407697.1:c.1941C>T
- NM_001407698.1:c.1941C>T
- NM_001407724.1:c.1941C>T
- NM_001407725.1:c.1941C>T
- NM_001407726.1:c.1941C>T
- NM_001407727.1:c.1941C>T
- NM_001407728.1:c.1941C>T
- NM_001407729.1:c.1941C>T
- NM_001407730.1:c.1941C>T
- NM_001407731.1:c.1941C>T
- NM_001407732.1:c.1941C>T
- NM_001407733.1:c.1941C>T
- NM_001407734.1:c.1941C>T
- NM_001407735.1:c.1941C>T
- NM_001407736.1:c.1941C>T
- NM_001407737.1:c.1941C>T
- NM_001407738.1:c.1941C>T
- NM_001407739.1:c.1941C>T
- NM_001407740.1:c.1938C>T
- NM_001407741.1:c.1938C>T
- NM_001407742.1:c.1938C>T
- NM_001407743.1:c.1938C>T
- NM_001407744.1:c.1938C>T
- NM_001407745.1:c.1938C>T
- NM_001407746.1:c.1938C>T
- NM_001407747.1:c.1938C>T
- NM_001407748.1:c.1938C>T
- NM_001407749.1:c.1938C>T
- NM_001407750.1:c.1941C>T
- NM_001407751.1:c.1941C>T
- NM_001407752.1:c.1941C>T
- NM_001407838.1:c.1938C>T
- NM_001407839.1:c.1938C>T
- NM_001407841.1:c.1938C>T
- NM_001407842.1:c.1938C>T
- NM_001407843.1:c.1938C>T
- NM_001407844.1:c.1938C>T
- NM_001407845.1:c.1938C>T
- NM_001407846.1:c.1938C>T
- NM_001407847.1:c.1938C>T
- NM_001407848.1:c.1938C>T
- NM_001407849.1:c.1938C>T
- NM_001407850.1:c.1941C>T
- NM_001407851.1:c.1941C>T
- NM_001407852.1:c.1941C>T
- NM_001407853.1:c.1869C>T
- NM_001407854.1:c.2082C>T
- NM_001407858.1:c.2082C>T
- NM_001407859.1:c.2082C>T
- NM_001407860.1:c.2079C>T
- NM_001407861.1:c.2079C>T
- NM_001407862.1:c.1881C>T
- NM_001407863.1:c.1959C>T
- NM_001407874.1:c.1878C>T
- NM_001407875.1:c.1878C>T
- NM_001407879.1:c.1872C>T
- NM_001407881.1:c.1872C>T
- NM_001407882.1:c.1872C>T
- NM_001407884.1:c.1872C>T
- NM_001407885.1:c.1872C>T
- NM_001407886.1:c.1872C>T
- NM_001407887.1:c.1872C>T
- NM_001407889.1:c.1872C>T
- NM_001407894.1:c.1869C>T
- NM_001407895.1:c.1869C>T
- NM_001407896.1:c.1869C>T
- NM_001407897.1:c.1869C>T
- NM_001407898.1:c.1869C>T
- NM_001407899.1:c.1869C>T
- NM_001407900.1:c.1872C>T
- NM_001407902.1:c.1872C>T
- NM_001407904.1:c.1872C>T
- NM_001407906.1:c.1872C>T
- NM_001407907.1:c.1872C>T
- NM_001407908.1:c.1872C>T
- NM_001407909.1:c.1872C>T
- NM_001407910.1:c.1872C>T
- NM_001407915.1:c.1869C>T
- NM_001407916.1:c.1869C>T
- NM_001407917.1:c.1869C>T
- NM_001407918.1:c.1869C>T
- NM_001407919.1:c.1959C>T
- NM_001407920.1:c.1818C>T
- NM_001407921.1:c.1818C>T
- NM_001407922.1:c.1818C>T
- NM_001407923.1:c.1818C>T
- NM_001407924.1:c.1818C>T
- NM_001407925.1:c.1818C>T
- NM_001407926.1:c.1818C>T
- NM_001407927.1:c.1818C>T
- NM_001407928.1:c.1818C>T
- NM_001407929.1:c.1818C>T
- NM_001407930.1:c.1815C>T
- NM_001407931.1:c.1815C>T
- NM_001407932.1:c.1815C>T
- NM_001407933.1:c.1818C>T
- NM_001407934.1:c.1815C>T
- NM_001407935.1:c.1818C>T
- NM_001407936.1:c.1815C>T
- NM_001407937.1:c.1959C>T
- NM_001407938.1:c.1959C>T
- NM_001407939.1:c.1959C>T
- NM_001407940.1:c.1956C>T
- NM_001407941.1:c.1956C>T
- NM_001407942.1:c.1941C>T
- NM_001407943.1:c.1938C>T
- NM_001407944.1:c.1941C>T
- NM_001407945.1:c.1941C>T
- NM_001407946.1:c.1749C>T
- NM_001407947.1:c.1749C>T
- NM_001407948.1:c.1749C>T
- NM_001407949.1:c.1749C>T
- NM_001407950.1:c.1749C>T
- NM_001407951.1:c.1749C>T
- NM_001407952.1:c.1749C>T
- NM_001407953.1:c.1749C>T
- NM_001407954.1:c.1746C>T
- NM_001407955.1:c.1746C>T
- NM_001407956.1:c.1746C>T
- NM_001407957.1:c.1749C>T
- NM_001407958.1:c.1746C>T
- NM_001407959.1:c.1701C>T
- NM_001407960.1:c.1701C>T
- NM_001407962.1:c.1698C>T
- NM_001407963.1:c.1701C>T
- NM_001407964.1:c.1938C>T
- NM_001407965.1:c.1578C>T
- NM_001407966.1:c.1194C>T
- NM_001407967.1:c.1194C>T
- NM_001407968.1:c.787+1295C>T
- NM_001407969.1:c.787+1295C>T
- NM_001407970.1:c.787+1295C>T
- NM_001407971.1:c.787+1295C>T
- NM_001407972.1:c.784+1295C>T
- NM_001407973.1:c.787+1295C>T
- NM_001407974.1:c.787+1295C>T
- NM_001407975.1:c.787+1295C>T
- NM_001407976.1:c.787+1295C>T
- NM_001407977.1:c.787+1295C>T
- NM_001407978.1:c.787+1295C>T
- NM_001407979.1:c.787+1295C>T
- NM_001407980.1:c.787+1295C>T
- NM_001407981.1:c.787+1295C>T
- NM_001407982.1:c.787+1295C>T
- NM_001407983.1:c.787+1295C>T
- NM_001407984.1:c.784+1295C>T
- NM_001407985.1:c.784+1295C>T
- NM_001407986.1:c.784+1295C>T
- NM_001407990.1:c.787+1295C>T
- NM_001407991.1:c.784+1295C>T
- NM_001407992.1:c.784+1295C>T
- NM_001407993.1:c.787+1295C>T
- NM_001408392.1:c.784+1295C>T
- NM_001408396.1:c.784+1295C>T
- NM_001408397.1:c.784+1295C>T
- NM_001408398.1:c.784+1295C>T
- NM_001408399.1:c.784+1295C>T
- NM_001408400.1:c.784+1295C>T
- NM_001408401.1:c.784+1295C>T
- NM_001408402.1:c.784+1295C>T
- NM_001408403.1:c.787+1295C>T
- NM_001408404.1:c.787+1295C>T
- NM_001408406.1:c.790+1292C>T
- NM_001408407.1:c.784+1295C>T
- NM_001408408.1:c.778+1295C>T
- NM_001408409.1:c.709+1295C>T
- NM_001408410.1:c.646+1295C>T
- NM_001408411.1:c.709+1295C>T
- NM_001408412.1:c.709+1295C>T
- NM_001408413.1:c.706+1295C>T
- NM_001408414.1:c.709+1295C>T
- NM_001408415.1:c.709+1295C>T
- NM_001408416.1:c.706+1295C>T
- NM_001408418.1:c.670+2397C>T
- NM_001408419.1:c.670+2397C>T
- NM_001408420.1:c.670+2397C>T
- NM_001408421.1:c.667+2397C>T
- NM_001408422.1:c.670+2397C>T
- NM_001408423.1:c.670+2397C>T
- NM_001408424.1:c.667+2397C>T
- NM_001408425.1:c.664+1295C>T
- NM_001408426.1:c.664+1295C>T
- NM_001408427.1:c.664+1295C>T
- NM_001408428.1:c.664+1295C>T
- NM_001408429.1:c.664+1295C>T
- NM_001408430.1:c.664+1295C>T
- NM_001408431.1:c.667+2397C>T
- NM_001408432.1:c.661+1295C>T
- NM_001408433.1:c.661+1295C>T
- NM_001408434.1:c.661+1295C>T
- NM_001408435.1:c.661+1295C>T
- NM_001408436.1:c.664+1295C>T
- NM_001408437.1:c.664+1295C>T
- NM_001408438.1:c.664+1295C>T
- NM_001408439.1:c.664+1295C>T
- NM_001408440.1:c.664+1295C>T
- NM_001408441.1:c.664+1295C>T
- NM_001408442.1:c.664+1295C>T
- NM_001408443.1:c.664+1295C>T
- NM_001408444.1:c.664+1295C>T
- NM_001408445.1:c.661+1295C>T
- NM_001408446.1:c.661+1295C>T
- NM_001408447.1:c.661+1295C>T
- NM_001408448.1:c.661+1295C>T
- NM_001408450.1:c.661+1295C>T
- NM_001408451.1:c.652+1295C>T
- NM_001408452.1:c.646+1295C>T
- NM_001408453.1:c.646+1295C>T
- NM_001408454.1:c.646+1295C>T
- NM_001408455.1:c.646+1295C>T
- NM_001408456.1:c.646+1295C>T
- NM_001408457.1:c.646+1295C>T
- NM_001408458.1:c.646+1295C>T
- NM_001408459.1:c.646+1295C>T
- NM_001408460.1:c.646+1295C>T
- NM_001408461.1:c.646+1295C>T
- NM_001408462.1:c.643+1295C>T
- NM_001408463.1:c.643+1295C>T
- NM_001408464.1:c.643+1295C>T
- NM_001408465.1:c.643+1295C>T
- NM_001408466.1:c.646+1295C>T
- NM_001408467.1:c.646+1295C>T
- NM_001408468.1:c.643+1295C>T
- NM_001408469.1:c.646+1295C>T
- NM_001408470.1:c.643+1295C>T
- NM_001408472.1:c.787+1295C>T
- NM_001408473.1:c.784+1295C>T
- NM_001408474.1:c.586+1295C>T
- NM_001408475.1:c.583+1295C>T
- NM_001408476.1:c.586+1295C>T
- NM_001408478.1:c.577+1295C>T
- NM_001408479.1:c.577+1295C>T
- NM_001408480.1:c.577+1295C>T
- NM_001408481.1:c.577+1295C>T
- NM_001408482.1:c.577+1295C>T
- NM_001408483.1:c.577+1295C>T
- NM_001408484.1:c.577+1295C>T
- NM_001408485.1:c.577+1295C>T
- NM_001408489.1:c.577+1295C>T
- NM_001408490.1:c.574+1295C>T
- NM_001408491.1:c.574+1295C>T
- NM_001408492.1:c.577+1295C>T
- NM_001408493.1:c.574+1295C>T
- NM_001408494.1:c.548-2417C>T
- NM_001408495.1:c.545-2417C>T
- NM_001408496.1:c.523+1295C>T
- NM_001408497.1:c.523+1295C>T
- NM_001408498.1:c.523+1295C>T
- NM_001408499.1:c.523+1295C>T
- NM_001408500.1:c.523+1295C>T
- NM_001408501.1:c.523+1295C>T
- NM_001408502.1:c.454+1295C>T
- NM_001408503.1:c.520+1295C>T
- NM_001408504.1:c.520+1295C>T
- NM_001408505.1:c.520+1295C>T
- NM_001408506.1:c.460+2397C>T
- NM_001408507.1:c.460+2397C>T
- NM_001408508.1:c.451+1295C>T
- NM_001408509.1:c.451+1295C>T
- NM_001408510.1:c.406+1295C>T
- NM_001408511.1:c.404-2417C>T
- NM_001408512.1:c.283+1295C>T
- NM_001408513.1:c.577+1295C>T
- NM_001408514.1:c.577+1295C>T
- NM_007294.4:c.2082C>TMANE SELECT
- NM_007297.4:c.1941C>T
- NM_007298.4:c.787+1295C>T
- NM_007299.4:c.787+1295C>T
- NM_007300.4:c.2082C>T
- NP_001394500.1:p.Ser623=
- NP_001394510.1:p.Ser694=
- NP_001394511.1:p.Ser694=
- NP_001394512.1:p.Ser694=
- NP_001394514.1:p.Ser694=
- NP_001394516.1:p.Ser693=
- NP_001394519.1:p.Ser693=
- NP_001394520.1:p.Ser693=
- NP_001394522.1:p.Ser694=
- NP_001394523.1:p.Ser694=
- NP_001394525.1:p.Ser694=
- NP_001394526.1:p.Ser694=
- NP_001394527.1:p.Ser694=
- NP_001394531.1:p.Ser694=
- NP_001394532.1:p.Ser694=
- NP_001394534.1:p.Ser694=
- NP_001394539.1:p.Ser693=
- NP_001394540.1:p.Ser693=
- NP_001394541.1:p.Ser693=
- NP_001394542.1:p.Ser693=
- NP_001394543.1:p.Ser693=
- NP_001394544.1:p.Ser693=
- NP_001394545.1:p.Ser694=
- NP_001394546.1:p.Ser694=
- NP_001394547.1:p.Ser694=
- NP_001394548.1:p.Ser694=
- NP_001394549.1:p.Ser694=
- NP_001394550.1:p.Ser694=
- NP_001394551.1:p.Ser694=
- NP_001394552.1:p.Ser694=
- NP_001394553.1:p.Ser694=
- NP_001394554.1:p.Ser694=
- NP_001394555.1:p.Ser694=
- NP_001394556.1:p.Ser693=
- NP_001394557.1:p.Ser693=
- NP_001394558.1:p.Ser693=
- NP_001394559.1:p.Ser693=
- NP_001394560.1:p.Ser693=
- NP_001394561.1:p.Ser693=
- NP_001394562.1:p.Ser693=
- NP_001394563.1:p.Ser693=
- NP_001394564.1:p.Ser693=
- NP_001394565.1:p.Ser693=
- NP_001394566.1:p.Ser693=
- NP_001394567.1:p.Ser693=
- NP_001394568.1:p.Ser694=
- NP_001394569.1:p.Ser694=
- NP_001394570.1:p.Ser694=
- NP_001394571.1:p.Ser694=
- NP_001394573.1:p.Ser693=
- NP_001394574.1:p.Ser693=
- NP_001394575.1:p.Ser691=
- NP_001394576.1:p.Ser691=
- NP_001394577.1:p.Ser653=
- NP_001394578.1:p.Ser652=
- NP_001394581.1:p.Ser694=
- NP_001394582.1:p.Ser668=
- NP_001394583.1:p.Ser668=
- NP_001394584.1:p.Ser668=
- NP_001394585.1:p.Ser668=
- NP_001394586.1:p.Ser668=
- NP_001394587.1:p.Ser668=
- NP_001394588.1:p.Ser667=
- NP_001394589.1:p.Ser667=
- NP_001394590.1:p.Ser667=
- NP_001394591.1:p.Ser667=
- NP_001394592.1:p.Ser668=
- NP_001394593.1:p.Ser653=
- NP_001394594.1:p.Ser653=
- NP_001394595.1:p.Ser653=
- NP_001394596.1:p.Ser653=
- NP_001394597.1:p.Ser653=
- NP_001394598.1:p.Ser653=
- NP_001394599.1:p.Ser652=
- NP_001394600.1:p.Ser652=
- NP_001394601.1:p.Ser652=
- NP_001394602.1:p.Ser652=
- NP_001394603.1:p.Ser653=
- NP_001394604.1:p.Ser653=
- NP_001394605.1:p.Ser653=
- NP_001394606.1:p.Ser653=
- NP_001394607.1:p.Ser653=
- NP_001394608.1:p.Ser653=
- NP_001394609.1:p.Ser653=
- NP_001394610.1:p.Ser653=
- NP_001394611.1:p.Ser653=
- NP_001394612.1:p.Ser653=
- NP_001394613.1:p.Ser694=
- NP_001394614.1:p.Ser652=
- NP_001394615.1:p.Ser652=
- NP_001394616.1:p.Ser652=
- NP_001394617.1:p.Ser652=
- NP_001394618.1:p.Ser652=
- NP_001394619.1:p.Ser652=
- NP_001394620.1:p.Ser652=
- NP_001394621.1:p.Ser647=
- NP_001394623.1:p.Ser647=
- NP_001394624.1:p.Ser647=
- NP_001394625.1:p.Ser647=
- NP_001394626.1:p.Ser647=
- NP_001394627.1:p.Ser647=
- NP_001394653.1:p.Ser647=
- NP_001394654.1:p.Ser647=
- NP_001394655.1:p.Ser647=
- NP_001394656.1:p.Ser647=
- NP_001394657.1:p.Ser647=
- NP_001394658.1:p.Ser647=
- NP_001394659.1:p.Ser647=
- NP_001394660.1:p.Ser647=
- NP_001394661.1:p.Ser647=
- NP_001394662.1:p.Ser647=
- NP_001394663.1:p.Ser647=
- NP_001394664.1:p.Ser647=
- NP_001394665.1:p.Ser647=
- NP_001394666.1:p.Ser647=
- NP_001394667.1:p.Ser647=
- NP_001394668.1:p.Ser647=
- NP_001394669.1:p.Ser646=
- NP_001394670.1:p.Ser646=
- NP_001394671.1:p.Ser646=
- NP_001394672.1:p.Ser646=
- NP_001394673.1:p.Ser646=
- NP_001394674.1:p.Ser646=
- NP_001394675.1:p.Ser646=
- NP_001394676.1:p.Ser646=
- NP_001394677.1:p.Ser646=
- NP_001394678.1:p.Ser646=
- NP_001394679.1:p.Ser647=
- NP_001394680.1:p.Ser647=
- NP_001394681.1:p.Ser647=
- NP_001394767.1:p.Ser646=
- NP_001394768.1:p.Ser646=
- NP_001394770.1:p.Ser646=
- NP_001394771.1:p.Ser646=
- NP_001394772.1:p.Ser646=
- NP_001394773.1:p.Ser646=
- NP_001394774.1:p.Ser646=
- NP_001394775.1:p.Ser646=
- NP_001394776.1:p.Ser646=
- NP_001394777.1:p.Ser646=
- NP_001394778.1:p.Ser646=
- NP_001394779.1:p.Ser647=
- NP_001394780.1:p.Ser647=
- NP_001394781.1:p.Ser647=
- NP_001394782.1:p.Ser623=
- NP_001394783.1:p.Ser694=
- NP_001394787.1:p.Ser694=
- NP_001394788.1:p.Ser694=
- NP_001394789.1:p.Ser693=
- NP_001394790.1:p.Ser693=
- NP_001394791.1:p.Ser627=
- NP_001394792.1:p.Ser653=
- NP_001394803.1:p.Ser626=
- NP_001394804.1:p.Ser626=
- NP_001394808.1:p.Ser624=
- NP_001394810.1:p.Ser624=
- NP_001394811.1:p.Ser624=
- NP_001394813.1:p.Ser624=
- NP_001394814.1:p.Ser624=
- NP_001394815.1:p.Ser624=
- NP_001394816.1:p.Ser624=
- NP_001394818.1:p.Ser624=
- NP_001394823.1:p.Ser623=
- NP_001394824.1:p.Ser623=
- NP_001394825.1:p.Ser623=
- NP_001394826.1:p.Ser623=
- NP_001394827.1:p.Ser623=
- NP_001394828.1:p.Ser623=
- NP_001394829.1:p.Ser624=
- NP_001394831.1:p.Ser624=
- NP_001394833.1:p.Ser624=
- NP_001394835.1:p.Ser624=
- NP_001394836.1:p.Ser624=
- NP_001394837.1:p.Ser624=
- NP_001394838.1:p.Ser624=
- NP_001394839.1:p.Ser624=
- NP_001394844.1:p.Ser623=
- NP_001394845.1:p.Ser623=
- NP_001394846.1:p.Ser623=
- NP_001394847.1:p.Ser623=
- NP_001394848.1:p.Ser653=
- NP_001394849.1:p.Ser606=
- NP_001394850.1:p.Ser606=
- NP_001394851.1:p.Ser606=
- NP_001394852.1:p.Ser606=
- NP_001394853.1:p.Ser606=
- NP_001394854.1:p.Ser606=
- NP_001394855.1:p.Ser606=
- NP_001394856.1:p.Ser606=
- NP_001394857.1:p.Ser606=
- NP_001394858.1:p.Ser606=
- NP_001394859.1:p.Ser605=
- NP_001394860.1:p.Ser605=
- NP_001394861.1:p.Ser605=
- NP_001394862.1:p.Ser606=
- NP_001394863.1:p.Ser605=
- NP_001394864.1:p.Ser606=
- NP_001394865.1:p.Ser605=
- NP_001394866.1:p.Ser653=
- NP_001394867.1:p.Ser653=
- NP_001394868.1:p.Ser653=
- NP_001394869.1:p.Ser652=
- NP_001394870.1:p.Ser652=
- NP_001394871.1:p.Ser647=
- NP_001394872.1:p.Ser646=
- NP_001394873.1:p.Ser647=
- NP_001394874.1:p.Ser647=
- NP_001394875.1:p.Ser583=
- NP_001394876.1:p.Ser583=
- NP_001394877.1:p.Ser583=
- NP_001394878.1:p.Ser583=
- NP_001394879.1:p.Ser583=
- NP_001394880.1:p.Ser583=
- NP_001394881.1:p.Ser583=
- NP_001394882.1:p.Ser583=
- NP_001394883.1:p.Ser582=
- NP_001394884.1:p.Ser582=
- NP_001394885.1:p.Ser582=
- NP_001394886.1:p.Ser583=
- NP_001394887.1:p.Ser582=
- NP_001394888.1:p.Ser567=
- NP_001394889.1:p.Ser567=
- NP_001394891.1:p.Ser566=
- NP_001394892.1:p.Ser567=
- NP_001394893.1:p.Ser646=
- NP_001394894.1:p.Ser526=
- NP_001394895.1:p.Ser398=
- NP_001394896.1:p.Ser398=
- NP_009225.1:p.Ser694=
- NP_009225.1:p.Ser694=
- NP_009228.2:p.Ser647=
- NP_009231.2:p.Ser694=
- LRG_292t1:c.2082C>T
- LRG_292:g.124535C>T
- LRG_292p1:p.Ser694=
- NC_000017.10:g.41245466G>A
- NM_007294.2:c.2082C>T
- NM_007294.3:c.2082C>T
- NM_007294.4:c.2082C>T
- NM_007299.3:c.787+1295C>T
- NM_007300.3:c.2082C>T
- NP_009225.1:p.(=)
- NR_027676.2:n.2259C>T
- U14680.1:n.2201C>T
- p.S694S
- p.Ser694Ser
- U14680.1:n.2201T>C
This HGVS expression did not pass validation- Nucleotide change:
- 2201C>T
- Links:
- Breast Cancer Information Core (BIC) (BRCA1): 2201&base_change=C to T; Breast Cancer Information Core (BIC) (BRCA1): 2201&base_change=T to C; dbSNP: rs1799949
- NCBI 1000 Genomes Browser:
- rs1799949
- Molecular consequence:
- NM_001407968.1:c.787+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.787+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.787+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.787+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.784+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.787+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.787+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.787+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.787+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.787+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.787+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.787+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.787+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.787+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.787+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.787+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.784+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.784+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.784+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.787+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.784+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.784+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.787+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.784+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.784+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.784+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.784+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.784+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.784+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.784+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.784+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.787+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.787+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.790+1292C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.784+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.778+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.709+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.646+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.709+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.709+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.706+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.709+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.709+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.706+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.670+2397C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.670+2397C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.670+2397C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.667+2397C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.670+2397C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.670+2397C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.667+2397C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.664+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.664+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.664+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.664+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.664+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.664+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.667+2397C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.661+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.661+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.661+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.661+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.664+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.664+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.664+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.664+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.664+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.664+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.664+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.664+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.664+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.661+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.661+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.661+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.661+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.661+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.652+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.646+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.646+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.646+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.646+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.646+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.646+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.646+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.646+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.646+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.646+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.643+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.643+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.643+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.643+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.646+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.646+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.643+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.646+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.643+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.787+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.784+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.586+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.583+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.586+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.577+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.577+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.577+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.577+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.577+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.577+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.577+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.577+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.577+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.574+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.574+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.577+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.574+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-2417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-2417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.523+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.523+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.523+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.523+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.523+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.523+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.454+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.520+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.520+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.520+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.460+2397C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.460+2397C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.451+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.451+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.406+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-2417C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.283+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.577+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.577+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.787+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.787+1295C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.1869C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407581.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407582.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407583.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407585.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407587.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407590.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407591.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407593.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407594.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407596.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407597.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407598.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407602.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407603.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407605.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407610.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407611.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407612.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407613.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407614.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407615.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407616.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407617.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407618.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407619.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407620.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407621.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407622.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407623.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407624.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407625.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407626.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407627.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407628.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407629.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407630.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407631.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407632.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407633.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407634.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407635.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407636.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407637.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407638.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407639.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407640.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407641.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407642.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407644.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407645.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407646.1:c.2073C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407647.1:c.2073C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407648.1:c.1959C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407649.1:c.1956C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407652.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407653.1:c.2004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407654.1:c.2004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407655.1:c.2004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407656.1:c.2004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407657.1:c.2004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407658.1:c.2004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407659.1:c.2001C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407660.1:c.2001C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407661.1:c.2001C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407662.1:c.2001C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407663.1:c.2004C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407664.1:c.1959C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407665.1:c.1959C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407666.1:c.1959C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407667.1:c.1959C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407668.1:c.1959C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407669.1:c.1959C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407670.1:c.1956C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407671.1:c.1956C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407672.1:c.1956C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407673.1:c.1956C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407674.1:c.1959C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407675.1:c.1959C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407676.1:c.1959C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407677.1:c.1959C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407678.1:c.1959C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407679.1:c.1959C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407680.1:c.1959C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407681.1:c.1959C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407682.1:c.1959C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407683.1:c.1959C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407684.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407685.1:c.1956C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407686.1:c.1956C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407687.1:c.1956C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407688.1:c.1956C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407689.1:c.1956C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407690.1:c.1956C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407691.1:c.1956C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407692.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407694.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407695.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407696.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407697.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407698.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407724.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407725.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407726.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407727.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407728.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407729.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407730.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407731.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407732.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407733.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407734.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407735.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407736.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407737.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407738.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407739.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407740.1:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407741.1:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407742.1:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407743.1:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407744.1:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407745.1:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407746.1:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407747.1:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407748.1:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407749.1:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407750.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407751.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407752.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407838.1:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407839.1:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407841.1:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407842.1:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407843.1:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407844.1:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407845.1:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407846.1:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407847.1:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407848.1:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407849.1:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407850.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407851.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407852.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407853.1:c.1869C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407854.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407858.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407859.1:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407860.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407861.1:c.2079C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407862.1:c.1881C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407863.1:c.1959C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407874.1:c.1878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407875.1:c.1878C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407879.1:c.1872C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407881.1:c.1872C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407882.1:c.1872C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407884.1:c.1872C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407885.1:c.1872C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407886.1:c.1872C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407887.1:c.1872C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407889.1:c.1872C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407894.1:c.1869C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407895.1:c.1869C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407896.1:c.1869C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407897.1:c.1869C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407898.1:c.1869C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407899.1:c.1869C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407900.1:c.1872C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407902.1:c.1872C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407904.1:c.1872C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407906.1:c.1872C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407907.1:c.1872C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407908.1:c.1872C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407909.1:c.1872C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407910.1:c.1872C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407915.1:c.1869C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407916.1:c.1869C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407917.1:c.1869C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407918.1:c.1869C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407919.1:c.1959C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407920.1:c.1818C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407921.1:c.1818C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407922.1:c.1818C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407923.1:c.1818C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407924.1:c.1818C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407925.1:c.1818C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407926.1:c.1818C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407927.1:c.1818C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407928.1:c.1818C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407929.1:c.1818C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407930.1:c.1815C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407931.1:c.1815C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407932.1:c.1815C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407933.1:c.1818C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407934.1:c.1815C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407935.1:c.1818C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407936.1:c.1815C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407937.1:c.1959C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407938.1:c.1959C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407939.1:c.1959C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407940.1:c.1956C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407941.1:c.1956C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407942.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407943.1:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407944.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407945.1:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407946.1:c.1749C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407947.1:c.1749C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407948.1:c.1749C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407949.1:c.1749C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407950.1:c.1749C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407951.1:c.1749C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407952.1:c.1749C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407953.1:c.1749C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407954.1:c.1746C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407955.1:c.1746C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407956.1:c.1746C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407957.1:c.1749C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407958.1:c.1746C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407959.1:c.1701C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407960.1:c.1701C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407962.1:c.1698C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407963.1:c.1701C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407964.1:c.1938C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407965.1:c.1578C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407966.1:c.1194C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407967.1:c.1194C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007294.4:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007297.4:c.1941C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007300.4:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]
- Observations:
- 746
Condition(s)
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000144293 | Breast Cancer Information Core (BIC) (BRCA1) | no classification provided | not provided | germline, unknown | clinical testing | Ladopolou-et-al.,-Cancer-Lett,-185:61,-2002, |
SCV000144294 | Breast Cancer Information Core (BIC) (BRCA1) | no assertion criteria provided | Benign (Jan 1, 2000) | germline | clinical testing | |
SCV000154005 | Counsyl | criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015)) | Benign (Jan 2, 2014) | unknown | literature only | Counsyl Autosomal Dominant Disease Classification criteria (2015), |
SCV000189331 | Sharing Clinical Reports Project (SCRP) | no assertion criteria provided | Benign (Mar 22, 2011) | germline | clinical testing | |
SCV000195900 | Michigan Medical Genetics Laboratories, University of Michigan | criteria provided, single submitter (ACMG Guidelines, 2015) | Benign (Nov 3, 2014) | germline | clinical testing | |
SCV000244746 | Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) | reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015)) | Benign (Jan 12, 2015) | germline | curation | ENIGMA BRCA1/2 Classification Criteria (2015), |
SCV000403067 | Illumina Laboratory Services, Illumina | criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) | Benign (Jan 12, 2018) | germline | clinical testing | |
SCV000733648 | Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus | no assertion criteria provided | Benign | germline | clinical testing | |
SCV000743420 | Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus | criteria provided, single submitter (ACGS Guidelines, 2013) | Benign (Oct 10, 2014) | germline | clinical testing | |
SCV000744665 | Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus | criteria provided, single submitter (ACGS Guidelines, 2013) | Benign (Sep 21, 2015) | germline | clinical testing | |
SCV002097606 | GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited | criteria provided, single submitter (ACMG Guidelines, 2015) | Benign | germline | clinical testing | |
SCV004016746 | KCCC/NGS Laboratory, Kuwait Cancer Control Center | criteria provided, single submitter (ACMG Guidelines, 2015) | Benign (Jul 7, 2023) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing, curation |
unknown | unknown | not provided | not provided | not provided | not provided | not provided | literature only | |
not provided | germline | not provided | 104 | not provided | not provided | 104 | not provided | clinical testing |
not provided | germline | no | not provided | not provided | not provided | not provided | not provided | clinical testing |
not provided | germline | yes | 636 | not provided | not provided | not provided | not provided | clinical testing |
Caucasian | germline | yes | 3 | not provided | not provided | not provided | not provided | clinical testing |
Chinese | not provided | yes | 1 | not provided | not provided | not provided | not provided | clinical testing |
Greek | germline | yes | 1 | not provided | not provided | not provided | not provided | clinical testing |
Malay | not provided | yes | 1 | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
- PMID:
- 25741868
- PMCID:
- PMC4544753
Details of each submission
From Breast Cancer Information Core (BIC) (BRCA1), SCV000144293.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 5 | not provided | not provided | clinical testing | not provided |
2 | not provided | 412 | not provided | not provided | clinical testing | not provided |
3 | not provided | 204 | not provided | not provided | clinical testing | not provided |
4 | not provided | 14 | not provided | not provided | clinical testing | not provided |
5 | Caucasian | 1 | not provided | not provided | clinical testing | not provided |
6 | Caucasian | 2 | not provided | not provided | clinical testing | not provided |
7 | Chinese | 1 | not provided | not provided | clinical testing | not provided |
8 | Greek | 1 | not provided | not provided | clinical testing | not provided |
9 | Malay | 1 | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | 5 | not provided | not provided | not provided | |
2 | germline | yes | not provided | not provided | not provided | 412 | not provided | not provided | not provided | |
3 | germline | yes | not provided | not provided | not provided | 204 | not provided | not provided | not provided | |
4 | germline | yes | not provided | not provided | not provided | 14 | not provided | not provided | not provided | |
5 | germline | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided | |
6 | germline | yes | not provided | not provided | not provided | 2 | not provided | not provided | not provided | |
7 | unknown | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided | |
8 | germline | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided | |
9 | unknown | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided |
From Breast Cancer Information Core (BIC) (BRCA1), SCV000144294.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided |
From Counsyl, SCV000154005.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | literature only | not provided |
Description
High frequency in a 1kG or ESP population: 32.4 %.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Sharing Clinical Reports Project (SCRP), SCV000189331.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | not provided | 104 | not provided | not provided | not provided | not provided | not provided | not provided |
From Michigan Medical Genetics Laboratories, University of Michigan, SCV000195900.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | Blood | not provided | not provided | not provided | not provided | not provided |
From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000244746.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | curation | not provided |
Description
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.2154 (African), 0.3562 (European), derived from 1000 genomes (2012-04-30).
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Illumina Laboratory Services, Illumina, SCV000403067.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000733648.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV000743420.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000744665.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited, SCV002097606.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | no | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004016746.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Jun 9, 2024