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 stars
reviewed by expert panel

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no 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

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)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Anopheles funestus isolate TZMU14_0 cytochrome P450 6P9a (CYP6P9a) gene, partial...
Anopheles funestus isolate TZMU14_0 cytochrome P450 6P9a (CYP6P9a) gene, partial cds
gi|1933755971|gb|MW030803.1|

Nucleotide
Assembly links for BioSample (Select 16720257) (2)
Assembly
txid351659[Organism:noexp] (6)
PopSet
Anopheles funestus voucher BSA50 internal transcribed spacer 2 and 28S ribosomal...
Anopheles funestus voucher BSA50 internal transcribed spacer 2 and 28S ribosomal RNA gene, partial sequence
gi|1387119180|gb|MH298739.1|

Nucleotide
OMIM links for OMIM (Select 162200) (61)
BioSample

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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), Citation Link,
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	PubMed (1) [See all records that cite this PMID]
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), Citation Link,
SCV000403067	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Benign (Jan 12, 2018)	germline	clinical testing	Citation Link,
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	Citation Link,
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	Citation Link,
SCV002097606	GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004016746	KCCC/NGS Laboratory, Kuwait Cancer Control Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jul 7, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

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.

PubMed [citation]

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: May 12, 2024

Relating variation to medicine