NM_007294.4(BRCA1):c.1065G>A (p.Lys355=) AND Malignant tumor of breast
- Germline classification:
- Benign (1 submission)
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- 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:
- RCV001354009.2
Allele description [Variation Report for NM_007294.4(BRCA1):c.1065G>A (p.Lys355=)]
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=)
- 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.1065G>A (p.Lys355=)
- Other names:
- 1184G/A; p.K355K:AAG>AAA
- HGVS:
- NC_000017.11:g.43094466C>T
- NG_005905.2:g.123518G>A
- NM_001407571.1:c.852G>A
- NM_001407581.1:c.1065G>A
- NM_001407582.1:c.1065G>A
- NM_001407583.1:c.1065G>A
- NM_001407585.1:c.1065G>A
- NM_001407587.1:c.1062G>A
- NM_001407590.1:c.1062G>A
- NM_001407591.1:c.1062G>A
- NM_001407593.1:c.1065G>A
- NM_001407594.1:c.1065G>A
- NM_001407596.1:c.1065G>A
- NM_001407597.1:c.1065G>A
- NM_001407598.1:c.1065G>A
- NM_001407602.1:c.1065G>A
- NM_001407603.1:c.1065G>A
- NM_001407605.1:c.1065G>A
- NM_001407610.1:c.1062G>A
- NM_001407611.1:c.1062G>A
- NM_001407612.1:c.1062G>A
- NM_001407613.1:c.1062G>A
- NM_001407614.1:c.1062G>A
- NM_001407615.1:c.1062G>A
- NM_001407616.1:c.1065G>A
- NM_001407617.1:c.1065G>A
- NM_001407618.1:c.1065G>A
- NM_001407619.1:c.1065G>A
- NM_001407620.1:c.1065G>A
- NM_001407621.1:c.1065G>A
- NM_001407622.1:c.1065G>A
- NM_001407623.1:c.1065G>A
- NM_001407624.1:c.1065G>A
- NM_001407625.1:c.1065G>A
- NM_001407626.1:c.1065G>A
- NM_001407627.1:c.1062G>A
- NM_001407628.1:c.1062G>A
- NM_001407629.1:c.1062G>A
- NM_001407630.1:c.1062G>A
- NM_001407631.1:c.1062G>A
- NM_001407632.1:c.1062G>A
- NM_001407633.1:c.1062G>A
- NM_001407634.1:c.1062G>A
- NM_001407635.1:c.1062G>A
- NM_001407636.1:c.1062G>A
- NM_001407637.1:c.1062G>A
- NM_001407638.1:c.1062G>A
- NM_001407639.1:c.1065G>A
- NM_001407640.1:c.1065G>A
- NM_001407641.1:c.1065G>A
- NM_001407642.1:c.1065G>A
- NM_001407644.1:c.1062G>A
- NM_001407645.1:c.1062G>A
- NM_001407646.1:c.1056G>A
- NM_001407647.1:c.1056G>A
- NM_001407648.1:c.942G>A
- NM_001407649.1:c.939G>A
- NM_001407652.1:c.1065G>A
- NM_001407653.1:c.987G>A
- NM_001407654.1:c.987G>A
- NM_001407655.1:c.987G>A
- NM_001407656.1:c.987G>A
- NM_001407657.1:c.987G>A
- NM_001407658.1:c.987G>A
- NM_001407659.1:c.984G>A
- NM_001407660.1:c.984G>A
- NM_001407661.1:c.984G>A
- NM_001407662.1:c.984G>A
- NM_001407663.1:c.987G>A
- NM_001407664.1:c.942G>A
- NM_001407665.1:c.942G>A
- NM_001407666.1:c.942G>A
- NM_001407667.1:c.942G>A
- NM_001407668.1:c.942G>A
- NM_001407669.1:c.942G>A
- NM_001407670.1:c.939G>A
- NM_001407671.1:c.939G>A
- NM_001407672.1:c.939G>A
- NM_001407673.1:c.939G>A
- NM_001407674.1:c.942G>A
- NM_001407675.1:c.942G>A
- NM_001407676.1:c.942G>A
- NM_001407677.1:c.942G>A
- NM_001407678.1:c.942G>A
- NM_001407679.1:c.942G>A
- NM_001407680.1:c.942G>A
- NM_001407681.1:c.942G>A
- NM_001407682.1:c.942G>A
- NM_001407683.1:c.942G>A
- NM_001407684.1:c.1065G>A
- NM_001407685.1:c.939G>A
- NM_001407686.1:c.939G>A
- NM_001407687.1:c.939G>A
- NM_001407688.1:c.939G>A
- NM_001407689.1:c.939G>A
- NM_001407690.1:c.939G>A
- NM_001407691.1:c.939G>A
- NM_001407692.1:c.924G>A
- NM_001407694.1:c.924G>A
- NM_001407695.1:c.924G>A
- NM_001407696.1:c.924G>A
- NM_001407697.1:c.924G>A
- NM_001407698.1:c.924G>A
- NM_001407724.1:c.924G>A
- NM_001407725.1:c.924G>A
- NM_001407726.1:c.924G>A
- NM_001407727.1:c.924G>A
- NM_001407728.1:c.924G>A
- NM_001407729.1:c.924G>A
- NM_001407730.1:c.924G>A
- NM_001407731.1:c.924G>A
- NM_001407732.1:c.924G>A
- NM_001407733.1:c.924G>A
- NM_001407734.1:c.924G>A
- NM_001407735.1:c.924G>A
- NM_001407736.1:c.924G>A
- NM_001407737.1:c.924G>A
- NM_001407738.1:c.924G>A
- NM_001407739.1:c.924G>A
- NM_001407740.1:c.921G>A
- NM_001407741.1:c.921G>A
- NM_001407742.1:c.921G>A
- NM_001407743.1:c.921G>A
- NM_001407744.1:c.921G>A
- NM_001407745.1:c.921G>A
- NM_001407746.1:c.921G>A
- NM_001407747.1:c.921G>A
- NM_001407748.1:c.921G>A
- NM_001407749.1:c.921G>A
- NM_001407750.1:c.924G>A
- NM_001407751.1:c.924G>A
- NM_001407752.1:c.924G>A
- NM_001407838.1:c.921G>A
- NM_001407839.1:c.921G>A
- NM_001407841.1:c.921G>A
- NM_001407842.1:c.921G>A
- NM_001407843.1:c.921G>A
- NM_001407844.1:c.921G>A
- NM_001407845.1:c.921G>A
- NM_001407846.1:c.921G>A
- NM_001407847.1:c.921G>A
- NM_001407848.1:c.921G>A
- NM_001407849.1:c.921G>A
- NM_001407850.1:c.924G>A
- NM_001407851.1:c.924G>A
- NM_001407852.1:c.924G>A
- NM_001407853.1:c.852G>A
- NM_001407854.1:c.1065G>A
- NM_001407858.1:c.1065G>A
- NM_001407859.1:c.1065G>A
- NM_001407860.1:c.1062G>A
- NM_001407861.1:c.1062G>A
- NM_001407862.1:c.864G>A
- NM_001407863.1:c.942G>A
- NM_001407874.1:c.861G>A
- NM_001407875.1:c.861G>A
- NM_001407879.1:c.855G>A
- NM_001407881.1:c.855G>A
- NM_001407882.1:c.855G>A
- NM_001407884.1:c.855G>A
- NM_001407885.1:c.855G>A
- NM_001407886.1:c.855G>A
- NM_001407887.1:c.855G>A
- NM_001407889.1:c.855G>A
- NM_001407894.1:c.852G>A
- NM_001407895.1:c.852G>A
- NM_001407896.1:c.852G>A
- NM_001407897.1:c.852G>A
- NM_001407898.1:c.852G>A
- NM_001407899.1:c.852G>A
- NM_001407900.1:c.855G>A
- NM_001407902.1:c.855G>A
- NM_001407904.1:c.855G>A
- NM_001407906.1:c.855G>A
- NM_001407907.1:c.855G>A
- NM_001407908.1:c.855G>A
- NM_001407909.1:c.855G>A
- NM_001407910.1:c.855G>A
- NM_001407915.1:c.852G>A
- NM_001407916.1:c.852G>A
- NM_001407917.1:c.852G>A
- NM_001407918.1:c.852G>A
- NM_001407919.1:c.942G>A
- NM_001407920.1:c.801G>A
- NM_001407921.1:c.801G>A
- NM_001407922.1:c.801G>A
- NM_001407923.1:c.801G>A
- NM_001407924.1:c.801G>A
- NM_001407925.1:c.801G>A
- NM_001407926.1:c.801G>A
- NM_001407927.1:c.801G>A
- NM_001407928.1:c.801G>A
- NM_001407929.1:c.801G>A
- NM_001407930.1:c.798G>A
- NM_001407931.1:c.798G>A
- NM_001407932.1:c.798G>A
- NM_001407933.1:c.801G>A
- NM_001407934.1:c.798G>A
- NM_001407935.1:c.801G>A
- NM_001407936.1:c.798G>A
- NM_001407937.1:c.942G>A
- NM_001407938.1:c.942G>A
- NM_001407939.1:c.942G>A
- NM_001407940.1:c.939G>A
- NM_001407941.1:c.939G>A
- NM_001407942.1:c.924G>A
- NM_001407943.1:c.921G>A
- NM_001407944.1:c.924G>A
- NM_001407945.1:c.924G>A
- NM_001407946.1:c.732G>A
- NM_001407947.1:c.732G>A
- NM_001407948.1:c.732G>A
- NM_001407949.1:c.732G>A
- NM_001407950.1:c.732G>A
- NM_001407951.1:c.732G>A
- NM_001407952.1:c.732G>A
- NM_001407953.1:c.732G>A
- NM_001407954.1:c.729G>A
- NM_001407955.1:c.729G>A
- NM_001407956.1:c.729G>A
- NM_001407957.1:c.732G>A
- NM_001407958.1:c.729G>A
- NM_001407959.1:c.684G>A
- NM_001407960.1:c.684G>A
- NM_001407962.1:c.681G>A
- NM_001407963.1:c.684G>A
- NM_001407964.1:c.921G>A
- NM_001407965.1:c.561G>A
- NM_001407966.1:c.177G>A
- NM_001407967.1:c.177G>A
- NM_001407968.1:c.787+278G>A
- NM_001407969.1:c.787+278G>A
- NM_001407970.1:c.787+278G>A
- NM_001407971.1:c.787+278G>A
- NM_001407972.1:c.784+278G>A
- NM_001407973.1:c.787+278G>A
- NM_001407974.1:c.787+278G>A
- NM_001407975.1:c.787+278G>A
- NM_001407976.1:c.787+278G>A
- NM_001407977.1:c.787+278G>A
- NM_001407978.1:c.787+278G>A
- NM_001407979.1:c.787+278G>A
- NM_001407980.1:c.787+278G>A
- NM_001407981.1:c.787+278G>A
- NM_001407982.1:c.787+278G>A
- NM_001407983.1:c.787+278G>A
- NM_001407984.1:c.784+278G>A
- NM_001407985.1:c.784+278G>A
- NM_001407986.1:c.784+278G>A
- NM_001407990.1:c.787+278G>A
- NM_001407991.1:c.784+278G>A
- NM_001407992.1:c.784+278G>A
- NM_001407993.1:c.787+278G>A
- NM_001408392.1:c.784+278G>A
- NM_001408396.1:c.784+278G>A
- NM_001408397.1:c.784+278G>A
- NM_001408398.1:c.784+278G>A
- NM_001408399.1:c.784+278G>A
- NM_001408400.1:c.784+278G>A
- NM_001408401.1:c.784+278G>A
- NM_001408402.1:c.784+278G>A
- NM_001408403.1:c.787+278G>A
- NM_001408404.1:c.787+278G>A
- NM_001408406.1:c.790+275G>A
- NM_001408407.1:c.784+278G>A
- NM_001408408.1:c.778+278G>A
- NM_001408409.1:c.709+278G>A
- NM_001408410.1:c.646+278G>A
- NM_001408411.1:c.709+278G>A
- NM_001408412.1:c.709+278G>A
- NM_001408413.1:c.706+278G>A
- NM_001408414.1:c.709+278G>A
- NM_001408415.1:c.709+278G>A
- NM_001408416.1:c.706+278G>A
- NM_001408418.1:c.670+1380G>A
- NM_001408419.1:c.670+1380G>A
- NM_001408420.1:c.670+1380G>A
- NM_001408421.1:c.667+1380G>A
- NM_001408422.1:c.670+1380G>A
- NM_001408423.1:c.670+1380G>A
- NM_001408424.1:c.667+1380G>A
- NM_001408425.1:c.664+278G>A
- NM_001408426.1:c.664+278G>A
- NM_001408427.1:c.664+278G>A
- NM_001408428.1:c.664+278G>A
- NM_001408429.1:c.664+278G>A
- NM_001408430.1:c.664+278G>A
- NM_001408431.1:c.667+1380G>A
- NM_001408432.1:c.661+278G>A
- NM_001408433.1:c.661+278G>A
- NM_001408434.1:c.661+278G>A
- NM_001408435.1:c.661+278G>A
- NM_001408436.1:c.664+278G>A
- NM_001408437.1:c.664+278G>A
- NM_001408438.1:c.664+278G>A
- NM_001408439.1:c.664+278G>A
- NM_001408440.1:c.664+278G>A
- NM_001408441.1:c.664+278G>A
- NM_001408442.1:c.664+278G>A
- NM_001408443.1:c.664+278G>A
- NM_001408444.1:c.664+278G>A
- NM_001408445.1:c.661+278G>A
- NM_001408446.1:c.661+278G>A
- NM_001408447.1:c.661+278G>A
- NM_001408448.1:c.661+278G>A
- NM_001408450.1:c.661+278G>A
- NM_001408451.1:c.652+278G>A
- NM_001408452.1:c.646+278G>A
- NM_001408453.1:c.646+278G>A
- NM_001408454.1:c.646+278G>A
- NM_001408455.1:c.646+278G>A
- NM_001408456.1:c.646+278G>A
- NM_001408457.1:c.646+278G>A
- NM_001408458.1:c.646+278G>A
- NM_001408459.1:c.646+278G>A
- NM_001408460.1:c.646+278G>A
- NM_001408461.1:c.646+278G>A
- NM_001408462.1:c.643+278G>A
- NM_001408463.1:c.643+278G>A
- NM_001408464.1:c.643+278G>A
- NM_001408465.1:c.643+278G>A
- NM_001408466.1:c.646+278G>A
- NM_001408467.1:c.646+278G>A
- NM_001408468.1:c.643+278G>A
- NM_001408469.1:c.646+278G>A
- NM_001408470.1:c.643+278G>A
- NM_001408472.1:c.787+278G>A
- NM_001408473.1:c.784+278G>A
- NM_001408474.1:c.586+278G>A
- NM_001408475.1:c.583+278G>A
- NM_001408476.1:c.586+278G>A
- NM_001408478.1:c.577+278G>A
- NM_001408479.1:c.577+278G>A
- NM_001408480.1:c.577+278G>A
- NM_001408481.1:c.577+278G>A
- NM_001408482.1:c.577+278G>A
- NM_001408483.1:c.577+278G>A
- NM_001408484.1:c.577+278G>A
- NM_001408485.1:c.577+278G>A
- NM_001408489.1:c.577+278G>A
- NM_001408490.1:c.574+278G>A
- NM_001408491.1:c.574+278G>A
- NM_001408492.1:c.577+278G>A
- NM_001408493.1:c.574+278G>A
- NM_001408494.1:c.548-3434G>A
- NM_001408495.1:c.545-3434G>A
- NM_001408496.1:c.523+278G>A
- NM_001408497.1:c.523+278G>A
- NM_001408498.1:c.523+278G>A
- NM_001408499.1:c.523+278G>A
- NM_001408500.1:c.523+278G>A
- NM_001408501.1:c.523+278G>A
- NM_001408502.1:c.454+278G>A
- NM_001408503.1:c.520+278G>A
- NM_001408504.1:c.520+278G>A
- NM_001408505.1:c.520+278G>A
- NM_001408506.1:c.460+1380G>A
- NM_001408507.1:c.460+1380G>A
- NM_001408508.1:c.451+278G>A
- NM_001408509.1:c.451+278G>A
- NM_001408510.1:c.406+278G>A
- NM_001408511.1:c.404-3434G>A
- NM_001408512.1:c.283+278G>A
- NM_001408513.1:c.577+278G>A
- NM_001408514.1:c.577+278G>A
- NM_007294.4:c.1065G>AMANE SELECT
- NM_007297.4:c.924G>A
- NM_007298.4:c.787+278G>A
- NM_007299.4:c.787+278G>A
- NM_007300.3:c.1065G>A
- NM_007300.4:c.1065G>A
- NP_001394500.1:p.Lys284=
- NP_001394510.1:p.Lys355=
- NP_001394511.1:p.Lys355=
- NP_001394512.1:p.Lys355=
- NP_001394514.1:p.Lys355=
- NP_001394516.1:p.Lys354=
- NP_001394519.1:p.Lys354=
- NP_001394520.1:p.Lys354=
- NP_001394522.1:p.Lys355=
- NP_001394523.1:p.Lys355=
- NP_001394525.1:p.Lys355=
- NP_001394526.1:p.Lys355=
- NP_001394527.1:p.Lys355=
- NP_001394531.1:p.Lys355=
- NP_001394532.1:p.Lys355=
- NP_001394534.1:p.Lys355=
- NP_001394539.1:p.Lys354=
- NP_001394540.1:p.Lys354=
- NP_001394541.1:p.Lys354=
- NP_001394542.1:p.Lys354=
- NP_001394543.1:p.Lys354=
- NP_001394544.1:p.Lys354=
- NP_001394545.1:p.Lys355=
- NP_001394546.1:p.Lys355=
- NP_001394547.1:p.Lys355=
- NP_001394548.1:p.Lys355=
- NP_001394549.1:p.Lys355=
- NP_001394550.1:p.Lys355=
- NP_001394551.1:p.Lys355=
- NP_001394552.1:p.Lys355=
- NP_001394553.1:p.Lys355=
- NP_001394554.1:p.Lys355=
- NP_001394555.1:p.Lys355=
- NP_001394556.1:p.Lys354=
- NP_001394557.1:p.Lys354=
- NP_001394558.1:p.Lys354=
- NP_001394559.1:p.Lys354=
- NP_001394560.1:p.Lys354=
- NP_001394561.1:p.Lys354=
- NP_001394562.1:p.Lys354=
- NP_001394563.1:p.Lys354=
- NP_001394564.1:p.Lys354=
- NP_001394565.1:p.Lys354=
- NP_001394566.1:p.Lys354=
- NP_001394567.1:p.Lys354=
- NP_001394568.1:p.Lys355=
- NP_001394569.1:p.Lys355=
- NP_001394570.1:p.Lys355=
- NP_001394571.1:p.Lys355=
- NP_001394573.1:p.Lys354=
- NP_001394574.1:p.Lys354=
- NP_001394575.1:p.Lys352=
- NP_001394576.1:p.Lys352=
- NP_001394577.1:p.Lys314=
- NP_001394578.1:p.Lys313=
- NP_001394581.1:p.Lys355=
- NP_001394582.1:p.Lys329=
- NP_001394583.1:p.Lys329=
- NP_001394584.1:p.Lys329=
- NP_001394585.1:p.Lys329=
- NP_001394586.1:p.Lys329=
- NP_001394587.1:p.Lys329=
- NP_001394588.1:p.Lys328=
- NP_001394589.1:p.Lys328=
- NP_001394590.1:p.Lys328=
- NP_001394591.1:p.Lys328=
- NP_001394592.1:p.Lys329=
- NP_001394593.1:p.Lys314=
- NP_001394594.1:p.Lys314=
- NP_001394595.1:p.Lys314=
- NP_001394596.1:p.Lys314=
- NP_001394597.1:p.Lys314=
- NP_001394598.1:p.Lys314=
- NP_001394599.1:p.Lys313=
- NP_001394600.1:p.Lys313=
- NP_001394601.1:p.Lys313=
- NP_001394602.1:p.Lys313=
- NP_001394603.1:p.Lys314=
- NP_001394604.1:p.Lys314=
- NP_001394605.1:p.Lys314=
- NP_001394606.1:p.Lys314=
- NP_001394607.1:p.Lys314=
- NP_001394608.1:p.Lys314=
- NP_001394609.1:p.Lys314=
- NP_001394610.1:p.Lys314=
- NP_001394611.1:p.Lys314=
- NP_001394612.1:p.Lys314=
- NP_001394613.1:p.Lys355=
- NP_001394614.1:p.Lys313=
- NP_001394615.1:p.Lys313=
- NP_001394616.1:p.Lys313=
- NP_001394617.1:p.Lys313=
- NP_001394618.1:p.Lys313=
- NP_001394619.1:p.Lys313=
- NP_001394620.1:p.Lys313=
- NP_001394621.1:p.Lys308=
- NP_001394623.1:p.Lys308=
- NP_001394624.1:p.Lys308=
- NP_001394625.1:p.Lys308=
- NP_001394626.1:p.Lys308=
- NP_001394627.1:p.Lys308=
- NP_001394653.1:p.Lys308=
- NP_001394654.1:p.Lys308=
- NP_001394655.1:p.Lys308=
- NP_001394656.1:p.Lys308=
- NP_001394657.1:p.Lys308=
- NP_001394658.1:p.Lys308=
- NP_001394659.1:p.Lys308=
- NP_001394660.1:p.Lys308=
- NP_001394661.1:p.Lys308=
- NP_001394662.1:p.Lys308=
- NP_001394663.1:p.Lys308=
- NP_001394664.1:p.Lys308=
- NP_001394665.1:p.Lys308=
- NP_001394666.1:p.Lys308=
- NP_001394667.1:p.Lys308=
- NP_001394668.1:p.Lys308=
- NP_001394669.1:p.Lys307=
- NP_001394670.1:p.Lys307=
- NP_001394671.1:p.Lys307=
- NP_001394672.1:p.Lys307=
- NP_001394673.1:p.Lys307=
- NP_001394674.1:p.Lys307=
- NP_001394675.1:p.Lys307=
- NP_001394676.1:p.Lys307=
- NP_001394677.1:p.Lys307=
- NP_001394678.1:p.Lys307=
- NP_001394679.1:p.Lys308=
- NP_001394680.1:p.Lys308=
- NP_001394681.1:p.Lys308=
- NP_001394767.1:p.Lys307=
- NP_001394768.1:p.Lys307=
- NP_001394770.1:p.Lys307=
- NP_001394771.1:p.Lys307=
- NP_001394772.1:p.Lys307=
- NP_001394773.1:p.Lys307=
- NP_001394774.1:p.Lys307=
- NP_001394775.1:p.Lys307=
- NP_001394776.1:p.Lys307=
- NP_001394777.1:p.Lys307=
- NP_001394778.1:p.Lys307=
- NP_001394779.1:p.Lys308=
- NP_001394780.1:p.Lys308=
- NP_001394781.1:p.Lys308=
- NP_001394782.1:p.Lys284=
- NP_001394783.1:p.Lys355=
- NP_001394787.1:p.Lys355=
- NP_001394788.1:p.Lys355=
- NP_001394789.1:p.Lys354=
- NP_001394790.1:p.Lys354=
- NP_001394791.1:p.Lys288=
- NP_001394792.1:p.Lys314=
- NP_001394803.1:p.Lys287=
- NP_001394804.1:p.Lys287=
- NP_001394808.1:p.Lys285=
- NP_001394810.1:p.Lys285=
- NP_001394811.1:p.Lys285=
- NP_001394813.1:p.Lys285=
- NP_001394814.1:p.Lys285=
- NP_001394815.1:p.Lys285=
- NP_001394816.1:p.Lys285=
- NP_001394818.1:p.Lys285=
- NP_001394823.1:p.Lys284=
- NP_001394824.1:p.Lys284=
- NP_001394825.1:p.Lys284=
- NP_001394826.1:p.Lys284=
- NP_001394827.1:p.Lys284=
- NP_001394828.1:p.Lys284=
- NP_001394829.1:p.Lys285=
- NP_001394831.1:p.Lys285=
- NP_001394833.1:p.Lys285=
- NP_001394835.1:p.Lys285=
- NP_001394836.1:p.Lys285=
- NP_001394837.1:p.Lys285=
- NP_001394838.1:p.Lys285=
- NP_001394839.1:p.Lys285=
- NP_001394844.1:p.Lys284=
- NP_001394845.1:p.Lys284=
- NP_001394846.1:p.Lys284=
- NP_001394847.1:p.Lys284=
- NP_001394848.1:p.Lys314=
- NP_001394849.1:p.Lys267=
- NP_001394850.1:p.Lys267=
- NP_001394851.1:p.Lys267=
- NP_001394852.1:p.Lys267=
- NP_001394853.1:p.Lys267=
- NP_001394854.1:p.Lys267=
- NP_001394855.1:p.Lys267=
- NP_001394856.1:p.Lys267=
- NP_001394857.1:p.Lys267=
- NP_001394858.1:p.Lys267=
- NP_001394859.1:p.Lys266=
- NP_001394860.1:p.Lys266=
- NP_001394861.1:p.Lys266=
- NP_001394862.1:p.Lys267=
- NP_001394863.1:p.Lys266=
- NP_001394864.1:p.Lys267=
- NP_001394865.1:p.Lys266=
- NP_001394866.1:p.Lys314=
- NP_001394867.1:p.Lys314=
- NP_001394868.1:p.Lys314=
- NP_001394869.1:p.Lys313=
- NP_001394870.1:p.Lys313=
- NP_001394871.1:p.Lys308=
- NP_001394872.1:p.Lys307=
- NP_001394873.1:p.Lys308=
- NP_001394874.1:p.Lys308=
- NP_001394875.1:p.Lys244=
- NP_001394876.1:p.Lys244=
- NP_001394877.1:p.Lys244=
- NP_001394878.1:p.Lys244=
- NP_001394879.1:p.Lys244=
- NP_001394880.1:p.Lys244=
- NP_001394881.1:p.Lys244=
- NP_001394882.1:p.Lys244=
- NP_001394883.1:p.Lys243=
- NP_001394884.1:p.Lys243=
- NP_001394885.1:p.Lys243=
- NP_001394886.1:p.Lys244=
- NP_001394887.1:p.Lys243=
- NP_001394888.1:p.Lys228=
- NP_001394889.1:p.Lys228=
- NP_001394891.1:p.Lys227=
- NP_001394892.1:p.Lys228=
- NP_001394893.1:p.Lys307=
- NP_001394894.1:p.Lys187=
- NP_001394895.1:p.Lys59=
- NP_001394896.1:p.Lys59=
- NP_009225.1:p.Lys355=
- NP_009225.1:p.Lys355=
- NP_009228.2:p.Lys308=
- NP_009231.2:p.Lys355=
- LRG_292t1:c.1065G>A
- LRG_292:g.123518G>A
- LRG_292p1:p.Lys355=
- NC_000017.10:g.41246483C>T
- NM_007294.3:c.1065G>A
- NM_007294.4:c.1065G>A
- NM_007299.3:c.787+278G>A
- NR_027676.2:n.1242G>A
- U14680.1:n.1184G>A
- p.K355K
This HGVS expression did not pass validation- Links:
- Breast Cancer Information Core (BIC) (BRCA1): 1184&base_change=G to A; dbSNP: rs41286292
- NCBI 1000 Genomes Browser:
- rs41286292
- Molecular consequence:
- NM_001407968.1:c.787+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.787+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.787+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.787+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.784+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.787+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.787+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.787+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.787+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.787+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.787+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.787+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.787+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.787+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.787+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.787+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.784+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.784+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.784+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.787+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.784+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.784+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.787+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.784+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.784+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.784+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.784+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.784+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.784+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.784+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.784+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.787+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.787+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.790+275G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.784+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.778+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.709+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.646+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.709+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.709+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.706+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.709+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.709+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.706+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.670+1380G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.670+1380G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.670+1380G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.667+1380G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.670+1380G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.670+1380G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.667+1380G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.664+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.664+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.664+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.664+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.664+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.664+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.667+1380G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.661+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.661+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.661+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.661+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.664+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.664+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.664+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.664+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.664+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.664+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.664+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.664+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.664+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.661+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.661+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.661+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.661+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.661+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.652+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.646+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.646+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.646+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.646+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.646+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.646+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.646+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.646+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.646+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.646+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.643+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.643+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.643+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.643+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.646+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.646+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.643+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.646+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.643+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.787+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.784+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.586+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.583+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.586+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.577+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.577+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.577+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.577+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.577+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.577+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.577+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.577+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.577+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.574+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.574+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.577+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.574+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-3434G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-3434G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.523+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.523+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.523+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.523+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.523+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.523+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.454+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.520+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.520+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.520+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.460+1380G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.460+1380G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.451+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.451+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.406+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-3434G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.283+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.577+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.577+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.787+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.787+278G>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407581.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407582.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407583.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407585.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407587.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407590.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407591.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407593.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407594.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407596.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407597.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407598.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407602.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407603.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407605.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407610.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407611.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407612.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407613.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407614.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407615.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407616.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407617.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407618.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407619.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407620.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407621.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407622.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407623.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407624.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407625.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407626.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407627.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407628.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407629.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407630.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407631.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407632.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407633.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407634.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407635.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407636.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407637.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407638.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407639.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407640.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407641.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407642.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407644.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407645.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407646.1:c.1056G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407647.1:c.1056G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407648.1:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407649.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407652.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407653.1:c.987G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407654.1:c.987G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407655.1:c.987G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407656.1:c.987G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407657.1:c.987G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407658.1:c.987G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407659.1:c.984G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407660.1:c.984G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407661.1:c.984G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407662.1:c.984G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407663.1:c.987G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407664.1:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407665.1:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407666.1:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407667.1:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407668.1:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407669.1:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407670.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407671.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407672.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407673.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407674.1:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407675.1:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407676.1:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407677.1:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407678.1:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407679.1:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407680.1:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407681.1:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407682.1:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407683.1:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407684.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407685.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407686.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407687.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407688.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407689.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407690.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407691.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407692.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407694.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407695.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407696.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407697.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407698.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407724.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407725.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407726.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407727.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407728.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407729.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407730.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407731.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407732.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407733.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407734.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407735.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407736.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407737.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407738.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407739.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407740.1:c.921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407741.1:c.921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407742.1:c.921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407743.1:c.921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407744.1:c.921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407745.1:c.921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407746.1:c.921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407747.1:c.921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407748.1:c.921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407749.1:c.921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407750.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407751.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407752.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407838.1:c.921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407839.1:c.921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407841.1:c.921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407842.1:c.921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407843.1:c.921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407844.1:c.921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407845.1:c.921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407846.1:c.921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407847.1:c.921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407848.1:c.921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407849.1:c.921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407850.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407851.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407852.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407853.1:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407854.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407858.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407859.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407860.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407861.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407862.1:c.864G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407863.1:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407874.1:c.861G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407875.1:c.861G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407879.1:c.855G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407881.1:c.855G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407882.1:c.855G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407884.1:c.855G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407885.1:c.855G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407886.1:c.855G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407887.1:c.855G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407889.1:c.855G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407894.1:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407895.1:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407896.1:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407897.1:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407898.1:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407899.1:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407900.1:c.855G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407902.1:c.855G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407904.1:c.855G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407906.1:c.855G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407907.1:c.855G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407908.1:c.855G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407909.1:c.855G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407910.1:c.855G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407915.1:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407916.1:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407917.1:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407918.1:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407919.1:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407920.1:c.801G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407921.1:c.801G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407922.1:c.801G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407923.1:c.801G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407924.1:c.801G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407925.1:c.801G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407926.1:c.801G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407927.1:c.801G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407928.1:c.801G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407929.1:c.801G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407930.1:c.798G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407931.1:c.798G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407932.1:c.798G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407933.1:c.801G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407934.1:c.798G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407935.1:c.801G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407936.1:c.798G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407937.1:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407938.1:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407939.1:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407940.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407941.1:c.939G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407942.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407943.1:c.921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407944.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407945.1:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407946.1:c.732G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407947.1:c.732G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407948.1:c.732G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407949.1:c.732G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407950.1:c.732G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407951.1:c.732G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407952.1:c.732G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407953.1:c.732G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407954.1:c.729G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407955.1:c.729G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407956.1:c.729G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407957.1:c.732G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407958.1:c.729G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407959.1:c.684G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407960.1:c.684G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407962.1:c.681G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407963.1:c.684G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407964.1:c.921G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407965.1:c.561G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407966.1:c.177G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_001407967.1:c.177G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007294.4:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007297.4:c.924G>A - synonymous variant - [Sequence Ontology: SO:0001819]
- NM_007300.4:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Condition(s)
- Name:
- Malignant tumor of breast
- Synonyms:
- Malignant breast neoplasm; Cancer breast
- Identifiers:
- MONDO: MONDO:0007254; MedGen: C0006142
-
korea- eggc.vipYyc (5029)
BioProject
-
eggc.vipbOP (0)
BioProject
-
wsop eggc.vipxHh (0)
BioProject
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000591314 | Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)
| no assertion criteria provided | Benign | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | unknown | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591314.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The p.Lys355Lys variant was identified in 2 of 4244 proband chromosomes (frequency: 0.000) from individuals or families with hereditary breast and ovarian cancer (Borg 2010, Ricevuto 2001). The variant was also identified in dbSNP (ID: rs41286292) “With other allele”, with a minor allele frequency of 0.0002 (1000 Genomes Project), Exome Variant Server project in 1 of 8599 European American alleles, the ClinVar database 4X (classified as benign (BIC and GeneDx), likely benign (Counsyl) and uncertain significance (Invitae)), GeneInsight VariantWire database (2X, classified as “predicted unlikely impact” by a clinical laboratory), the BIC database (2X with no clinical importance), and UMD (17X as an unknown variant). In UMD the variant was identified with a co-occurring pathogenic BRCA1 variant (p.Val939LeufsX61), increasing the likelihood that the p.Lys355Lys variant does not have clinical significance. The variant was also identified by the Exome Aggregation Consortium (ExAC) database (released Oct 20th, 2014) in 22 of 66736 chromosomes (frequency: 0.0003297) from a population of European (Non-Finnish) individuals, although this low number of observations and low frequency is not substantive enough to determine the prevalence of the variant in the general population and its relationship to disease. The variant was also identified by our laboratory in 2 individuals with breast cancer. The p.Lys355Lys variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. In addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information, this variant meets our laboratory's criteria to be classified as benign.
# | Sample | Method | Observation | |||||||
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Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Jun 2, 2024