NM_007294.4(BRCA1):c.5086G>C (p.Val1696Leu) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 28, 2023
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- 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:
- RCV002513664.3
Allele description [Variation Report for NM_007294.4(BRCA1):c.5086G>C (p.Val1696Leu)]
NM_007294.4(BRCA1):c.5086G>C (p.Val1696Leu)
- 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.5086G>C (p.Val1696Leu)
- HGVS:
- NC_000017.11:g.43063940C>G
- NG_005905.2:g.154044G>C
- NM_001407571.1:c.4873G>C
- NM_001407581.1:c.5152G>C
- NM_001407582.1:c.5152G>C
- NM_001407583.1:c.5149G>C
- NM_001407585.1:c.5149G>C
- NM_001407587.1:c.5149G>C
- NM_001407590.1:c.5146G>C
- NM_001407591.1:c.5146G>C
- NM_001407593.1:c.5086G>C
- NM_001407594.1:c.5086G>C
- NM_001407596.1:c.5086G>C
- NM_001407597.1:c.5086G>C
- NM_001407598.1:c.5086G>C
- NM_001407602.1:c.5086G>C
- NM_001407603.1:c.5086G>C
- NM_001407605.1:c.5086G>C
- NM_001407610.1:c.5083G>C
- NM_001407611.1:c.5083G>C
- NM_001407612.1:c.5083G>C
- NM_001407613.1:c.5083G>C
- NM_001407614.1:c.5083G>C
- NM_001407615.1:c.5083G>C
- NM_001407616.1:c.5083G>C
- NM_001407617.1:c.5083G>C
- NM_001407618.1:c.5083G>C
- NM_001407619.1:c.5083G>C
- NM_001407620.1:c.5083G>C
- NM_001407621.1:c.5083G>C
- NM_001407622.1:c.5083G>C
- NM_001407623.1:c.5083G>C
- NM_001407624.1:c.5083G>C
- NM_001407625.1:c.5083G>C
- NM_001407626.1:c.5083G>C
- NM_001407627.1:c.5080G>C
- NM_001407628.1:c.5080G>C
- NM_001407629.1:c.5080G>C
- NM_001407630.1:c.5080G>C
- NM_001407631.1:c.5080G>C
- NM_001407632.1:c.5080G>C
- NM_001407633.1:c.5080G>C
- NM_001407634.1:c.5080G>C
- NM_001407635.1:c.5080G>C
- NM_001407636.1:c.5080G>C
- NM_001407637.1:c.5080G>C
- NM_001407638.1:c.5080G>C
- NM_001407639.1:c.5080G>C
- NM_001407640.1:c.5080G>C
- NM_001407641.1:c.5080G>C
- NM_001407642.1:c.5080G>C
- NM_001407644.1:c.5077G>C
- NM_001407645.1:c.5077G>C
- NM_001407646.1:c.5074G>C
- NM_001407647.1:c.5071G>C
- NM_001407648.1:c.5029G>C
- NM_001407649.1:c.5026G>C
- NM_001407653.1:c.5008G>C
- NM_001407654.1:c.5008G>C
- NM_001407655.1:c.5008G>C
- NM_001407656.1:c.5005G>C
- NM_001407657.1:c.5005G>C
- NM_001407658.1:c.5005G>C
- NM_001407659.1:c.5002G>C
- NM_001407660.1:c.5002G>C
- NM_001407661.1:c.5002G>C
- NM_001407662.1:c.5002G>C
- NM_001407663.1:c.5002G>C
- NM_001407664.1:c.4963G>C
- NM_001407665.1:c.4963G>C
- NM_001407666.1:c.4963G>C
- NM_001407667.1:c.4963G>C
- NM_001407668.1:c.4963G>C
- NM_001407669.1:c.4963G>C
- NM_001407670.1:c.4960G>C
- NM_001407671.1:c.4960G>C
- NM_001407672.1:c.4960G>C
- NM_001407673.1:c.4960G>C
- NM_001407674.1:c.4960G>C
- NM_001407675.1:c.4960G>C
- NM_001407676.1:c.4960G>C
- NM_001407677.1:c.4960G>C
- NM_001407678.1:c.4960G>C
- NM_001407679.1:c.4960G>C
- NM_001407680.1:c.4960G>C
- NM_001407681.1:c.4957G>C
- NM_001407682.1:c.4957G>C
- NM_001407683.1:c.4957G>C
- NM_001407684.1:c.5086G>C
- NM_001407685.1:c.4957G>C
- NM_001407686.1:c.4957G>C
- NM_001407687.1:c.4957G>C
- NM_001407688.1:c.4957G>C
- NM_001407689.1:c.4957G>C
- NM_001407690.1:c.4954G>C
- NM_001407691.1:c.4954G>C
- NM_001407692.1:c.4945G>C
- NM_001407694.1:c.4945G>C
- NM_001407695.1:c.4945G>C
- NM_001407696.1:c.4945G>C
- NM_001407697.1:c.4945G>C
- NM_001407698.1:c.4945G>C
- NM_001407724.1:c.4945G>C
- NM_001407725.1:c.4945G>C
- NM_001407726.1:c.4945G>C
- NM_001407727.1:c.4945G>C
- NM_001407728.1:c.4945G>C
- NM_001407729.1:c.4945G>C
- NM_001407730.1:c.4945G>C
- NM_001407731.1:c.4945G>C
- NM_001407732.1:c.4942G>C
- NM_001407733.1:c.4942G>C
- NM_001407734.1:c.4942G>C
- NM_001407735.1:c.4942G>C
- NM_001407736.1:c.4942G>C
- NM_001407737.1:c.4942G>C
- NM_001407738.1:c.4942G>C
- NM_001407739.1:c.4942G>C
- NM_001407740.1:c.4942G>C
- NM_001407741.1:c.4942G>C
- NM_001407742.1:c.4942G>C
- NM_001407743.1:c.4942G>C
- NM_001407744.1:c.4942G>C
- NM_001407745.1:c.4942G>C
- NM_001407746.1:c.4942G>C
- NM_001407747.1:c.4942G>C
- NM_001407748.1:c.4942G>C
- NM_001407749.1:c.4942G>C
- NM_001407750.1:c.4942G>C
- NM_001407751.1:c.4942G>C
- NM_001407752.1:c.4942G>C
- NM_001407838.1:c.4939G>C
- NM_001407839.1:c.4939G>C
- NM_001407841.1:c.4939G>C
- NM_001407842.1:c.4939G>C
- NM_001407843.1:c.4939G>C
- NM_001407844.1:c.4939G>C
- NM_001407845.1:c.4939G>C
- NM_001407846.1:c.4939G>C
- NM_001407847.1:c.4939G>C
- NM_001407848.1:c.4939G>C
- NM_001407849.1:c.4939G>C
- NM_001407850.1:c.4939G>C
- NM_001407851.1:c.4939G>C
- NM_001407852.1:c.4939G>C
- NM_001407853.1:c.4939G>C
- NM_001407854.1:c.5086G>C
- NM_001407858.1:c.5083G>C
- NM_001407859.1:c.5083G>C
- NM_001407860.1:c.5083G>C
- NM_001407861.1:c.5080G>C
- NM_001407862.1:c.4885G>C
- NM_001407874.1:c.4879G>C
- NM_001407875.1:c.4879G>C
- NM_001407879.1:c.4876G>C
- NM_001407881.1:c.4876G>C
- NM_001407882.1:c.4876G>C
- NM_001407884.1:c.4876G>C
- NM_001407885.1:c.4876G>C
- NM_001407886.1:c.4876G>C
- NM_001407887.1:c.4876G>C
- NM_001407889.1:c.4876G>C
- NM_001407894.1:c.4873G>C
- NM_001407895.1:c.4873G>C
- NM_001407896.1:c.4873G>C
- NM_001407897.1:c.4873G>C
- NM_001407898.1:c.4873G>C
- NM_001407899.1:c.4873G>C
- NM_001407900.1:c.4873G>C
- NM_001407902.1:c.4873G>C
- NM_001407904.1:c.4873G>C
- NM_001407906.1:c.4873G>C
- NM_001407907.1:c.4873G>C
- NM_001407908.1:c.4873G>C
- NM_001407909.1:c.4873G>C
- NM_001407910.1:c.4873G>C
- NM_001407915.1:c.4870G>C
- NM_001407916.1:c.4870G>C
- NM_001407917.1:c.4870G>C
- NM_001407918.1:c.4870G>C
- NM_001407919.1:c.4963G>C
- NM_001407920.1:c.4822G>C
- NM_001407921.1:c.4822G>C
- NM_001407922.1:c.4822G>C
- NM_001407923.1:c.4822G>C
- NM_001407924.1:c.4822G>C
- NM_001407925.1:c.4822G>C
- NM_001407926.1:c.4822G>C
- NM_001407927.1:c.4819G>C
- NM_001407928.1:c.4819G>C
- NM_001407929.1:c.4819G>C
- NM_001407930.1:c.4819G>C
- NM_001407931.1:c.4819G>C
- NM_001407932.1:c.4819G>C
- NM_001407933.1:c.4819G>C
- NM_001407934.1:c.4816G>C
- NM_001407935.1:c.4816G>C
- NM_001407936.1:c.4816G>C
- NM_001407937.1:c.4963G>C
- NM_001407938.1:c.4963G>C
- NM_001407939.1:c.4960G>C
- NM_001407940.1:c.4960G>C
- NM_001407941.1:c.4957G>C
- NM_001407942.1:c.4945G>C
- NM_001407943.1:c.4942G>C
- NM_001407944.1:c.4942G>C
- NM_001407945.1:c.4942G>C
- NM_001407946.1:c.4753G>C
- NM_001407947.1:c.4753G>C
- NM_001407948.1:c.4753G>C
- NM_001407949.1:c.4753G>C
- NM_001407950.1:c.4750G>C
- NM_001407951.1:c.4750G>C
- NM_001407952.1:c.4750G>C
- NM_001407953.1:c.4750G>C
- NM_001407954.1:c.4750G>C
- NM_001407955.1:c.4750G>C
- NM_001407956.1:c.4747G>C
- NM_001407957.1:c.4747G>C
- NM_001407958.1:c.4747G>C
- NM_001407959.1:c.4705G>C
- NM_001407960.1:c.4702G>C
- NM_001407962.1:c.4702G>C
- NM_001407963.1:c.4699G>C
- NM_001407964.1:c.4624G>C
- NM_001407965.1:c.4579G>C
- NM_001407966.1:c.4198G>C
- NM_001407967.1:c.4195G>C
- NM_001407968.1:c.2482G>C
- NM_001407969.1:c.2479G>C
- NM_001407970.1:c.1843G>C
- NM_001407971.1:c.1843G>C
- NM_001407972.1:c.1840G>C
- NM_001407973.1:c.1777G>C
- NM_001407974.1:c.1777G>C
- NM_001407975.1:c.1777G>C
- NM_001407976.1:c.1777G>C
- NM_001407977.1:c.1777G>C
- NM_001407978.1:c.1777G>C
- NM_001407979.1:c.1774G>C
- NM_001407980.1:c.1774G>C
- NM_001407981.1:c.1774G>C
- NM_001407982.1:c.1774G>C
- NM_001407983.1:c.1774G>C
- NM_001407984.1:c.1774G>C
- NM_001407985.1:c.1774G>C
- NM_001407986.1:c.1774G>C
- NM_001407990.1:c.1774G>C
- NM_001407991.1:c.1774G>C
- NM_001407992.1:c.1774G>C
- NM_001407993.1:c.1774G>C
- NM_001408392.1:c.1771G>C
- NM_001408396.1:c.1771G>C
- NM_001408397.1:c.1771G>C
- NM_001408398.1:c.1771G>C
- NM_001408399.1:c.1771G>C
- NM_001408400.1:c.1771G>C
- NM_001408401.1:c.1771G>C
- NM_001408402.1:c.1771G>C
- NM_001408403.1:c.1771G>C
- NM_001408404.1:c.1771G>C
- NM_001408406.1:c.1768G>C
- NM_001408407.1:c.1768G>C
- NM_001408408.1:c.1768G>C
- NM_001408409.1:c.1765G>C
- NM_001408410.1:c.1702G>C
- NM_001408411.1:c.1699G>C
- NM_001408412.1:c.1696G>C
- NM_001408413.1:c.1696G>C
- NM_001408414.1:c.1696G>C
- NM_001408415.1:c.1696G>C
- NM_001408416.1:c.1696G>C
- NM_001408418.1:c.1660G>C
- NM_001408419.1:c.1660G>C
- NM_001408420.1:c.1660G>C
- NM_001408421.1:c.1657G>C
- NM_001408422.1:c.1657G>C
- NM_001408423.1:c.1657G>C
- NM_001408424.1:c.1657G>C
- NM_001408425.1:c.1654G>C
- NM_001408426.1:c.1654G>C
- NM_001408427.1:c.1654G>C
- NM_001408428.1:c.1654G>C
- NM_001408429.1:c.1654G>C
- NM_001408430.1:c.1654G>C
- NM_001408431.1:c.1654G>C
- NM_001408432.1:c.1651G>C
- NM_001408433.1:c.1651G>C
- NM_001408434.1:c.1651G>C
- NM_001408435.1:c.1651G>C
- NM_001408436.1:c.1651G>C
- NM_001408437.1:c.1651G>C
- NM_001408438.1:c.1651G>C
- NM_001408439.1:c.1651G>C
- NM_001408440.1:c.1651G>C
- NM_001408441.1:c.1651G>C
- NM_001408442.1:c.1651G>C
- NM_001408443.1:c.1651G>C
- NM_001408444.1:c.1651G>C
- NM_001408445.1:c.1648G>C
- NM_001408446.1:c.1648G>C
- NM_001408447.1:c.1648G>C
- NM_001408448.1:c.1648G>C
- NM_001408450.1:c.1648G>C
- NM_001408451.1:c.1642G>C
- NM_001408452.1:c.1636G>C
- NM_001408453.1:c.1636G>C
- NM_001408454.1:c.1636G>C
- NM_001408455.1:c.1636G>C
- NM_001408456.1:c.1636G>C
- NM_001408457.1:c.1636G>C
- NM_001408458.1:c.1633G>C
- NM_001408459.1:c.1633G>C
- NM_001408460.1:c.1633G>C
- NM_001408461.1:c.1633G>C
- NM_001408462.1:c.1633G>C
- NM_001408463.1:c.1633G>C
- NM_001408464.1:c.1633G>C
- NM_001408465.1:c.1633G>C
- NM_001408466.1:c.1633G>C
- NM_001408467.1:c.1633G>C
- NM_001408468.1:c.1630G>C
- NM_001408469.1:c.1630G>C
- NM_001408470.1:c.1630G>C
- NM_001408472.1:c.1774G>C
- NM_001408473.1:c.1771G>C
- NM_001408474.1:c.1576G>C
- NM_001408475.1:c.1573G>C
- NM_001408476.1:c.1573G>C
- NM_001408478.1:c.1567G>C
- NM_001408479.1:c.1567G>C
- NM_001408480.1:c.1567G>C
- NM_001408481.1:c.1564G>C
- NM_001408482.1:c.1564G>C
- NM_001408483.1:c.1564G>C
- NM_001408484.1:c.1564G>C
- NM_001408485.1:c.1564G>C
- NM_001408489.1:c.1564G>C
- NM_001408490.1:c.1564G>C
- NM_001408491.1:c.1564G>C
- NM_001408492.1:c.1561G>C
- NM_001408493.1:c.1561G>C
- NM_001408494.1:c.1537G>C
- NM_001408495.1:c.1531G>C
- NM_001408496.1:c.1513G>C
- NM_001408497.1:c.1513G>C
- NM_001408498.1:c.1513G>C
- NM_001408499.1:c.1513G>C
- NM_001408500.1:c.1513G>C
- NM_001408501.1:c.1513G>C
- NM_001408502.1:c.1510G>C
- NM_001408503.1:c.1510G>C
- NM_001408504.1:c.1510G>C
- NM_001408505.1:c.1507G>C
- NM_001408506.1:c.1450G>C
- NM_001408507.1:c.1447G>C
- NM_001408508.1:c.1438G>C
- NM_001408509.1:c.1435G>C
- NM_001408510.1:c.1396G>C
- NM_001408511.1:c.1393G>C
- NM_001408512.1:c.1273G>C
- NM_001408513.1:c.1246G>C
- NM_001408514.1:c.850G>C
- NM_007294.4:c.5086G>CMANE SELECT
- NM_007297.4:c.4945G>C
- NM_007298.4:c.1774G>C
- NM_007299.4:c.1774G>C
- NM_007300.4:c.5149G>C
- NM_007304.2:c.1774G>C
- NP_001394500.1:p.Val1625Leu
- NP_001394510.1:p.Val1718Leu
- NP_001394511.1:p.Val1718Leu
- NP_001394512.1:p.Val1717Leu
- NP_001394514.1:p.Val1717Leu
- NP_001394516.1:p.Val1717Leu
- NP_001394519.1:p.Val1716Leu
- NP_001394520.1:p.Val1716Leu
- NP_001394522.1:p.Val1696Leu
- NP_001394523.1:p.Val1696Leu
- NP_001394525.1:p.Val1696Leu
- NP_001394526.1:p.Val1696Leu
- NP_001394527.1:p.Val1696Leu
- NP_001394531.1:p.Val1696Leu
- NP_001394532.1:p.Val1696Leu
- NP_001394534.1:p.Val1696Leu
- NP_001394539.1:p.Val1695Leu
- NP_001394540.1:p.Val1695Leu
- NP_001394541.1:p.Val1695Leu
- NP_001394542.1:p.Val1695Leu
- NP_001394543.1:p.Val1695Leu
- NP_001394544.1:p.Val1695Leu
- NP_001394545.1:p.Val1695Leu
- NP_001394546.1:p.Val1695Leu
- NP_001394547.1:p.Val1695Leu
- NP_001394548.1:p.Val1695Leu
- NP_001394549.1:p.Val1695Leu
- NP_001394550.1:p.Val1695Leu
- NP_001394551.1:p.Val1695Leu
- NP_001394552.1:p.Val1695Leu
- NP_001394553.1:p.Val1695Leu
- NP_001394554.1:p.Val1695Leu
- NP_001394555.1:p.Val1695Leu
- NP_001394556.1:p.Val1694Leu
- NP_001394557.1:p.Val1694Leu
- NP_001394558.1:p.Val1694Leu
- NP_001394559.1:p.Val1694Leu
- NP_001394560.1:p.Val1694Leu
- NP_001394561.1:p.Val1694Leu
- NP_001394562.1:p.Val1694Leu
- NP_001394563.1:p.Val1694Leu
- NP_001394564.1:p.Val1694Leu
- NP_001394565.1:p.Val1694Leu
- NP_001394566.1:p.Val1694Leu
- NP_001394567.1:p.Val1694Leu
- NP_001394568.1:p.Val1694Leu
- NP_001394569.1:p.Val1694Leu
- NP_001394570.1:p.Val1694Leu
- NP_001394571.1:p.Val1694Leu
- NP_001394573.1:p.Val1693Leu
- NP_001394574.1:p.Val1693Leu
- NP_001394575.1:p.Val1692Leu
- NP_001394576.1:p.Val1691Leu
- NP_001394577.1:p.Val1677Leu
- NP_001394578.1:p.Val1676Leu
- NP_001394582.1:p.Val1670Leu
- NP_001394583.1:p.Val1670Leu
- NP_001394584.1:p.Val1670Leu
- NP_001394585.1:p.Val1669Leu
- NP_001394586.1:p.Val1669Leu
- NP_001394587.1:p.Val1669Leu
- NP_001394588.1:p.Val1668Leu
- NP_001394589.1:p.Val1668Leu
- NP_001394590.1:p.Val1668Leu
- NP_001394591.1:p.Val1668Leu
- NP_001394592.1:p.Val1668Leu
- NP_001394593.1:p.Val1655Leu
- NP_001394594.1:p.Val1655Leu
- NP_001394595.1:p.Val1655Leu
- NP_001394596.1:p.Val1655Leu
- NP_001394597.1:p.Val1655Leu
- NP_001394598.1:p.Val1655Leu
- NP_001394599.1:p.Val1654Leu
- NP_001394600.1:p.Val1654Leu
- NP_001394601.1:p.Val1654Leu
- NP_001394602.1:p.Val1654Leu
- NP_001394603.1:p.Val1654Leu
- NP_001394604.1:p.Val1654Leu
- NP_001394605.1:p.Val1654Leu
- NP_001394606.1:p.Val1654Leu
- NP_001394607.1:p.Val1654Leu
- NP_001394608.1:p.Val1654Leu
- NP_001394609.1:p.Val1654Leu
- NP_001394610.1:p.Val1653Leu
- NP_001394611.1:p.Val1653Leu
- NP_001394612.1:p.Val1653Leu
- NP_001394613.1:p.Val1696Leu
- NP_001394614.1:p.Val1653Leu
- NP_001394615.1:p.Val1653Leu
- NP_001394616.1:p.Val1653Leu
- NP_001394617.1:p.Val1653Leu
- NP_001394618.1:p.Val1653Leu
- NP_001394619.1:p.Val1652Leu
- NP_001394620.1:p.Val1652Leu
- NP_001394621.1:p.Val1649Leu
- NP_001394623.1:p.Val1649Leu
- NP_001394624.1:p.Val1649Leu
- NP_001394625.1:p.Val1649Leu
- NP_001394626.1:p.Val1649Leu
- NP_001394627.1:p.Val1649Leu
- NP_001394653.1:p.Val1649Leu
- NP_001394654.1:p.Val1649Leu
- NP_001394655.1:p.Val1649Leu
- NP_001394656.1:p.Val1649Leu
- NP_001394657.1:p.Val1649Leu
- NP_001394658.1:p.Val1649Leu
- NP_001394659.1:p.Val1649Leu
- NP_001394660.1:p.Val1649Leu
- NP_001394661.1:p.Val1648Leu
- NP_001394662.1:p.Val1648Leu
- NP_001394663.1:p.Val1648Leu
- NP_001394664.1:p.Val1648Leu
- NP_001394665.1:p.Val1648Leu
- NP_001394666.1:p.Val1648Leu
- NP_001394667.1:p.Val1648Leu
- NP_001394668.1:p.Val1648Leu
- NP_001394669.1:p.Val1648Leu
- NP_001394670.1:p.Val1648Leu
- NP_001394671.1:p.Val1648Leu
- NP_001394672.1:p.Val1648Leu
- NP_001394673.1:p.Val1648Leu
- NP_001394674.1:p.Val1648Leu
- NP_001394675.1:p.Val1648Leu
- NP_001394676.1:p.Val1648Leu
- NP_001394677.1:p.Val1648Leu
- NP_001394678.1:p.Val1648Leu
- NP_001394679.1:p.Val1648Leu
- NP_001394680.1:p.Val1648Leu
- NP_001394681.1:p.Val1648Leu
- NP_001394767.1:p.Val1647Leu
- NP_001394768.1:p.Val1647Leu
- NP_001394770.1:p.Val1647Leu
- NP_001394771.1:p.Val1647Leu
- NP_001394772.1:p.Val1647Leu
- NP_001394773.1:p.Val1647Leu
- NP_001394774.1:p.Val1647Leu
- NP_001394775.1:p.Val1647Leu
- NP_001394776.1:p.Val1647Leu
- NP_001394777.1:p.Val1647Leu
- NP_001394778.1:p.Val1647Leu
- NP_001394779.1:p.Val1647Leu
- NP_001394780.1:p.Val1647Leu
- NP_001394781.1:p.Val1647Leu
- NP_001394782.1:p.Val1647Leu
- NP_001394783.1:p.Val1696Leu
- NP_001394787.1:p.Val1695Leu
- NP_001394788.1:p.Val1695Leu
- NP_001394789.1:p.Val1695Leu
- NP_001394790.1:p.Val1694Leu
- NP_001394791.1:p.Val1629Leu
- NP_001394803.1:p.Val1627Leu
- NP_001394804.1:p.Val1627Leu
- NP_001394808.1:p.Val1626Leu
- NP_001394810.1:p.Val1626Leu
- NP_001394811.1:p.Val1626Leu
- NP_001394813.1:p.Val1626Leu
- NP_001394814.1:p.Val1626Leu
- NP_001394815.1:p.Val1626Leu
- NP_001394816.1:p.Val1626Leu
- NP_001394818.1:p.Val1626Leu
- NP_001394823.1:p.Val1625Leu
- NP_001394824.1:p.Val1625Leu
- NP_001394825.1:p.Val1625Leu
- NP_001394826.1:p.Val1625Leu
- NP_001394827.1:p.Val1625Leu
- NP_001394828.1:p.Val1625Leu
- NP_001394829.1:p.Val1625Leu
- NP_001394831.1:p.Val1625Leu
- NP_001394833.1:p.Val1625Leu
- NP_001394835.1:p.Val1625Leu
- NP_001394836.1:p.Val1625Leu
- NP_001394837.1:p.Val1625Leu
- NP_001394838.1:p.Val1625Leu
- NP_001394839.1:p.Val1625Leu
- NP_001394844.1:p.Val1624Leu
- NP_001394845.1:p.Val1624Leu
- NP_001394846.1:p.Val1624Leu
- NP_001394847.1:p.Val1624Leu
- NP_001394848.1:p.Val1655Leu
- NP_001394849.1:p.Val1608Leu
- NP_001394850.1:p.Val1608Leu
- NP_001394851.1:p.Val1608Leu
- NP_001394852.1:p.Val1608Leu
- NP_001394853.1:p.Val1608Leu
- NP_001394854.1:p.Val1608Leu
- NP_001394855.1:p.Val1608Leu
- NP_001394856.1:p.Val1607Leu
- NP_001394857.1:p.Val1607Leu
- NP_001394858.1:p.Val1607Leu
- NP_001394859.1:p.Val1607Leu
- NP_001394860.1:p.Val1607Leu
- NP_001394861.1:p.Val1607Leu
- NP_001394862.1:p.Val1607Leu
- NP_001394863.1:p.Val1606Leu
- NP_001394864.1:p.Val1606Leu
- NP_001394865.1:p.Val1606Leu
- NP_001394866.1:p.Val1655Leu
- NP_001394867.1:p.Val1655Leu
- NP_001394868.1:p.Val1654Leu
- NP_001394869.1:p.Val1654Leu
- NP_001394870.1:p.Val1653Leu
- NP_001394871.1:p.Val1649Leu
- NP_001394872.1:p.Val1648Leu
- NP_001394873.1:p.Val1648Leu
- NP_001394874.1:p.Val1648Leu
- NP_001394875.1:p.Val1585Leu
- NP_001394876.1:p.Val1585Leu
- NP_001394877.1:p.Val1585Leu
- NP_001394878.1:p.Val1585Leu
- NP_001394879.1:p.Val1584Leu
- NP_001394880.1:p.Val1584Leu
- NP_001394881.1:p.Val1584Leu
- NP_001394882.1:p.Val1584Leu
- NP_001394883.1:p.Val1584Leu
- NP_001394884.1:p.Val1584Leu
- NP_001394885.1:p.Val1583Leu
- NP_001394886.1:p.Val1583Leu
- NP_001394887.1:p.Val1583Leu
- NP_001394888.1:p.Val1569Leu
- NP_001394889.1:p.Val1568Leu
- NP_001394891.1:p.Val1568Leu
- NP_001394892.1:p.Val1567Leu
- NP_001394893.1:p.Val1542Leu
- NP_001394894.1:p.Val1527Leu
- NP_001394895.1:p.Val1400Leu
- NP_001394896.1:p.Val1399Leu
- NP_001394897.1:p.Val828Leu
- NP_001394898.1:p.Val827Leu
- NP_001394899.1:p.Val615Leu
- NP_001394900.1:p.Val615Leu
- NP_001394901.1:p.Val614Leu
- NP_001394902.1:p.Val593Leu
- NP_001394903.1:p.Val593Leu
- NP_001394904.1:p.Val593Leu
- NP_001394905.1:p.Val593Leu
- NP_001394906.1:p.Val593Leu
- NP_001394907.1:p.Val593Leu
- NP_001394908.1:p.Val592Leu
- NP_001394909.1:p.Val592Leu
- NP_001394910.1:p.Val592Leu
- NP_001394911.1:p.Val592Leu
- NP_001394912.1:p.Val592Leu
- NP_001394913.1:p.Val592Leu
- NP_001394914.1:p.Val592Leu
- NP_001394915.1:p.Val592Leu
- NP_001394919.1:p.Val592Leu
- NP_001394920.1:p.Val592Leu
- NP_001394921.1:p.Val592Leu
- NP_001394922.1:p.Val592Leu
- NP_001395321.1:p.Val591Leu
- NP_001395325.1:p.Val591Leu
- NP_001395326.1:p.Val591Leu
- NP_001395327.1:p.Val591Leu
- NP_001395328.1:p.Val591Leu
- NP_001395329.1:p.Val591Leu
- NP_001395330.1:p.Val591Leu
- NP_001395331.1:p.Val591Leu
- NP_001395332.1:p.Val591Leu
- NP_001395333.1:p.Val591Leu
- NP_001395335.1:p.Val590Leu
- NP_001395336.1:p.Val590Leu
- NP_001395337.1:p.Val590Leu
- NP_001395338.1:p.Val589Leu
- NP_001395339.1:p.Val568Leu
- NP_001395340.1:p.Val567Leu
- NP_001395341.1:p.Val566Leu
- NP_001395342.1:p.Val566Leu
- NP_001395343.1:p.Val566Leu
- NP_001395344.1:p.Val566Leu
- NP_001395345.1:p.Val566Leu
- NP_001395347.1:p.Val554Leu
- NP_001395348.1:p.Val554Leu
- NP_001395349.1:p.Val554Leu
- NP_001395350.1:p.Val553Leu
- NP_001395351.1:p.Val553Leu
- NP_001395352.1:p.Val553Leu
- NP_001395353.1:p.Val553Leu
- NP_001395354.1:p.Val552Leu
- NP_001395355.1:p.Val552Leu
- NP_001395356.1:p.Val552Leu
- NP_001395357.1:p.Val552Leu
- NP_001395358.1:p.Val552Leu
- NP_001395359.1:p.Val552Leu
- NP_001395360.1:p.Val552Leu
- NP_001395361.1:p.Val551Leu
- NP_001395362.1:p.Val551Leu
- NP_001395363.1:p.Val551Leu
- NP_001395364.1:p.Val551Leu
- NP_001395365.1:p.Val551Leu
- NP_001395366.1:p.Val551Leu
- NP_001395367.1:p.Val551Leu
- NP_001395368.1:p.Val551Leu
- NP_001395369.1:p.Val551Leu
- NP_001395370.1:p.Val551Leu
- NP_001395371.1:p.Val551Leu
- NP_001395372.1:p.Val551Leu
- NP_001395373.1:p.Val551Leu
- NP_001395374.1:p.Val550Leu
- NP_001395375.1:p.Val550Leu
- NP_001395376.1:p.Val550Leu
- NP_001395377.1:p.Val550Leu
- NP_001395379.1:p.Val550Leu
- NP_001395380.1:p.Val548Leu
- NP_001395381.1:p.Val546Leu
- NP_001395382.1:p.Val546Leu
- NP_001395383.1:p.Val546Leu
- NP_001395384.1:p.Val546Leu
- NP_001395385.1:p.Val546Leu
- NP_001395386.1:p.Val546Leu
- NP_001395387.1:p.Val545Leu
- NP_001395388.1:p.Val545Leu
- NP_001395389.1:p.Val545Leu
- NP_001395390.1:p.Val545Leu
- NP_001395391.1:p.Val545Leu
- NP_001395392.1:p.Val545Leu
- NP_001395393.1:p.Val545Leu
- NP_001395394.1:p.Val545Leu
- NP_001395395.1:p.Val545Leu
- NP_001395396.1:p.Val545Leu
- NP_001395397.1:p.Val544Leu
- NP_001395398.1:p.Val544Leu
- NP_001395399.1:p.Val544Leu
- NP_001395401.1:p.Val592Leu
- NP_001395402.1:p.Val591Leu
- NP_001395403.1:p.Val526Leu
- NP_001395404.1:p.Val525Leu
- NP_001395405.1:p.Val525Leu
- NP_001395407.1:p.Val523Leu
- NP_001395408.1:p.Val523Leu
- NP_001395409.1:p.Val523Leu
- NP_001395410.1:p.Val522Leu
- NP_001395411.1:p.Val522Leu
- NP_001395412.1:p.Val522Leu
- NP_001395413.1:p.Val522Leu
- NP_001395414.1:p.Val522Leu
- NP_001395418.1:p.Val522Leu
- NP_001395419.1:p.Val522Leu
- NP_001395420.1:p.Val522Leu
- NP_001395421.1:p.Val521Leu
- NP_001395422.1:p.Val521Leu
- NP_001395423.1:p.Val513Leu
- NP_001395424.1:p.Val511Leu
- NP_001395425.1:p.Val505Leu
- NP_001395426.1:p.Val505Leu
- NP_001395427.1:p.Val505Leu
- NP_001395428.1:p.Val505Leu
- NP_001395429.1:p.Val505Leu
- NP_001395430.1:p.Val505Leu
- NP_001395431.1:p.Val504Leu
- NP_001395432.1:p.Val504Leu
- NP_001395433.1:p.Val504Leu
- NP_001395434.1:p.Val503Leu
- NP_001395435.1:p.Val484Leu
- NP_001395436.1:p.Val483Leu
- NP_001395437.1:p.Val480Leu
- NP_001395438.1:p.Val479Leu
- NP_001395439.1:p.Val466Leu
- NP_001395440.1:p.Val465Leu
- NP_001395441.1:p.Val425Leu
- NP_001395442.1:p.Val416Leu
- NP_001395443.1:p.Val284Leu
- NP_009225.1:p.Val1696Leu
- NP_009225.1:p.Val1696Leu
- NP_009228.2:p.Val1649Leu
- NP_009229.2:p.Val592Leu
- NP_009229.2:p.Val592Leu
- NP_009230.2:p.Val592Leu
- NP_009231.2:p.Val1717Leu
- NP_009235.2:p.Val592Leu
- LRG_292t1:c.5086G>C
- LRG_292:g.154044G>C
- LRG_292p1:p.Val1696Leu
- NC_000017.10:g.41215957C>G
- NM_007294.3:c.5086G>C
- NM_007298.3:c.1774G>C
- NR_027676.2:n.5263G>C
- U14680.1:n.5205G>C
This HGVS expression did not pass validation- Protein change:
- V1399L
- Links:
- dbSNP: rs80357125
- NCBI 1000 Genomes Browser:
- rs80357125
- Molecular consequence:
- NM_001407571.1:c.4873G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.5152G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.5152G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.5149G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.5149G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.5149G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.5146G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.5146G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.5086G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.5086G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.5086G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.5086G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.5086G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.5086G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.5086G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.5086G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.5083G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.5083G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.5083G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.5083G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.5083G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.5083G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.5083G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.5083G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.5083G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.5083G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.5083G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.5083G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.5083G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.5083G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.5083G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.5083G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.5083G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.5080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.5080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.5080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.5080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.5080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.5080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.5080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.5080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.5080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.5080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.5080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.5080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.5080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.5080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.5080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.5080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.5077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.5077G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.5074G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.5071G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.5029G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.5026G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.5008G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.5008G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.5008G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.5005G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.5005G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.5005G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.5002G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.5002G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.5002G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.5002G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.5002G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.4963G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.4963G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.4963G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.4963G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.4963G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.4963G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.4960G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.4960G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.4960G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.4960G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.4960G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.4960G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.4960G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.4960G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.4960G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.4960G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.4960G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.4957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.4957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.4957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.5086G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.4957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.4957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.4957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.4957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.4957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.4954G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.4954G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.4939G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.4939G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.4939G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.4939G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.4939G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.4939G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.4939G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.4939G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.4939G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.4939G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.4939G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.4939G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.4939G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.4939G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.4939G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.5086G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.5083G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.5083G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.5083G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.5080G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.4885G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.4879G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.4879G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.4876G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.4876G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.4876G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.4876G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.4876G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.4876G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.4876G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.4876G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.4873G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.4873G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.4873G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.4873G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.4873G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.4873G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.4873G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.4873G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.4873G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.4873G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.4873G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.4873G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.4873G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.4873G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.4870G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.4870G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.4870G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.4870G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.4963G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.4822G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.4822G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.4822G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.4822G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.4822G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.4822G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.4822G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.4819G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.4819G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.4819G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.4819G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.4819G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.4819G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.4819G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.4816G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.4816G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.4816G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.4963G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.4963G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.4960G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.4960G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.4957G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.4942G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.4753G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.4753G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.4753G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.4753G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.4750G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.4750G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.4750G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.4750G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.4750G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.4750G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.4747G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.4747G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.4747G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.4705G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.4702G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.4702G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.4699G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.4624G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.4579G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.4198G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.4195G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.2482G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.2479G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.1843G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.1843G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.1840G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.1777G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.1777G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.1777G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.1777G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.1777G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.1777G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.1774G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.1774G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.1774G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.1774G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.1774G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.1774G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.1774G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.1774G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.1774G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.1774G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.1774G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.1774G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.1771G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.1771G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.1771G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.1771G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.1771G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.1771G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.1771G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.1771G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.1771G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.1771G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.1768G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.1768G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.1768G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.1765G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.1702G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.1699G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.1696G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.1696G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.1696G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.1696G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.1696G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.1660G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.1660G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.1660G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.1657G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.1657G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.1657G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.1657G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.1654G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.1654G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.1654G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.1654G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.1654G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.1654G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.1654G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.1651G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.1651G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.1651G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.1651G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.1651G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.1651G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.1651G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.1651G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.1651G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.1651G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.1651G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.1651G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.1651G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.1648G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.1648G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.1648G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.1648G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.1648G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408451.1:c.1642G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.1636G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.1636G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.1636G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.1636G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.1636G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.1636G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.1633G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.1633G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.1633G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.1633G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.1633G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.1633G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.1633G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.1633G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.1633G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.1633G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.1630G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.1630G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.1630G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.1774G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.1771G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.1576G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.1573G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.1573G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408478.1:c.1567G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408479.1:c.1567G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408480.1:c.1567G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408481.1:c.1564G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408482.1:c.1564G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408483.1:c.1564G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408484.1:c.1564G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408485.1:c.1564G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408489.1:c.1564G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408490.1:c.1564G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408491.1:c.1564G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408492.1:c.1561G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408493.1:c.1561G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.1537G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.1531G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.1513G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.1513G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.1513G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.1513G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.1513G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.1513G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408502.1:c.1510G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.1510G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.1510G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.1507G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408506.1:c.1450G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408507.1:c.1447G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408508.1:c.1438G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408509.1:c.1435G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408510.1:c.1396G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408511.1:c.1393G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408512.1:c.1273G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408513.1:c.1246G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408514.1:c.850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.5086G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.4945G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.1774G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.1774G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.5149G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.1774G>C - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.5263G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- Functional consequence:
- functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5086G>C, a MISSENSE variant, produced a function score of -0.41, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
Condition(s)
- Name:
- Hereditary breast ovarian cancer syndrome
- Synonyms:
- Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV003441931 | Labcorp Genetics (formerly Invitae), Labcorp | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Uncertain significance (Sep 28, 2023) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
The breast cancer information core: database design, structure, and scope.
Szabo C, Masiello A, Ryan JF, Brody LC.
Hum Mutat. 2000;16(2):123-31.
- PMID:
- 10923033
Structure of the 53BP1 BRCT region bound to p53 and its comparison to the Brca1 BRCT structure.
Joo WS, Jeffrey PD, Cantor SB, Finnin MS, Livingston DM, Pavletich NP.
Genes Dev. 2002 Mar 1;16(5):583-93.
- PMID:
- 11877378
- PMCID:
- PMC155350
Details of each submission
From Labcorp Genetics (formerly Invitae), Labcorp, SCV003441931.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (8) |
Description
This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1696 of the BRCA1 protein (p.Val1696Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of BRCA1-related conditions (PMID: 10923033). ClinVar contains an entry for this variant (Variation ID: 55390). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BRCA1 protein function. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on BRCA1 function (PMID: 11877378, 19452558, 20516115, 28781887, 30209399, 30765603). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
# | 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 |
Last Updated: Oct 8, 2024