NM_007294.4(BRCA1):c.5023A>T (p.Thr1675Ser) AND Breast-ovarian cancer, familial, susceptibility to, 1
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- May 4, 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:
- RCV001076255.5
Allele description [Variation Report for NM_007294.4(BRCA1):c.5023A>T (p.Thr1675Ser)]
NM_007294.4(BRCA1):c.5023A>T (p.Thr1675Ser)
- 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.5023A>T (p.Thr1675Ser)
- HGVS:
- NC_000017.11:g.43067659T>A
- NG_005905.2:g.150325A>T
- NM_001407571.1:c.4810A>T
- NM_001407581.1:c.5089A>T
- NM_001407582.1:c.5089A>T
- NM_001407583.1:c.5086A>T
- NM_001407585.1:c.5086A>T
- NM_001407587.1:c.5086A>T
- NM_001407590.1:c.5083A>T
- NM_001407591.1:c.5083A>T
- NM_001407593.1:c.5023A>T
- NM_001407594.1:c.5023A>T
- NM_001407596.1:c.5023A>T
- NM_001407597.1:c.5023A>T
- NM_001407598.1:c.5023A>T
- NM_001407602.1:c.5023A>T
- NM_001407603.1:c.5023A>T
- NM_001407605.1:c.5023A>T
- NM_001407610.1:c.5020A>T
- NM_001407611.1:c.5020A>T
- NM_001407612.1:c.5020A>T
- NM_001407613.1:c.5020A>T
- NM_001407614.1:c.5020A>T
- NM_001407615.1:c.5020A>T
- NM_001407616.1:c.5020A>T
- NM_001407617.1:c.5020A>T
- NM_001407618.1:c.5020A>T
- NM_001407619.1:c.5020A>T
- NM_001407620.1:c.5020A>T
- NM_001407621.1:c.5020A>T
- NM_001407622.1:c.5020A>T
- NM_001407623.1:c.5020A>T
- NM_001407624.1:c.5020A>T
- NM_001407625.1:c.5020A>T
- NM_001407626.1:c.5020A>T
- NM_001407627.1:c.5017A>T
- NM_001407628.1:c.5017A>T
- NM_001407629.1:c.5017A>T
- NM_001407630.1:c.5017A>T
- NM_001407631.1:c.5017A>T
- NM_001407632.1:c.5017A>T
- NM_001407633.1:c.5017A>T
- NM_001407634.1:c.5017A>T
- NM_001407635.1:c.5017A>T
- NM_001407636.1:c.5017A>T
- NM_001407637.1:c.5017A>T
- NM_001407638.1:c.5017A>T
- NM_001407639.1:c.5017A>T
- NM_001407640.1:c.5017A>T
- NM_001407641.1:c.5017A>T
- NM_001407642.1:c.5017A>T
- NM_001407644.1:c.5014A>T
- NM_001407645.1:c.5014A>T
- NM_001407646.1:c.5011A>T
- NM_001407647.1:c.5008A>T
- NM_001407648.1:c.4966A>T
- NM_001407649.1:c.4963A>T
- NM_001407652.1:c.5023A>T
- NM_001407653.1:c.4945A>T
- NM_001407654.1:c.4945A>T
- NM_001407655.1:c.4945A>T
- NM_001407656.1:c.4942A>T
- NM_001407657.1:c.4942A>T
- NM_001407658.1:c.4942A>T
- NM_001407659.1:c.4939A>T
- NM_001407660.1:c.4939A>T
- NM_001407661.1:c.4939A>T
- NM_001407662.1:c.4939A>T
- NM_001407663.1:c.4939A>T
- NM_001407664.1:c.4900A>T
- NM_001407665.1:c.4900A>T
- NM_001407666.1:c.4900A>T
- NM_001407667.1:c.4900A>T
- NM_001407668.1:c.4900A>T
- NM_001407669.1:c.4900A>T
- NM_001407670.1:c.4897A>T
- NM_001407671.1:c.4897A>T
- NM_001407672.1:c.4897A>T
- NM_001407673.1:c.4897A>T
- NM_001407674.1:c.4897A>T
- NM_001407675.1:c.4897A>T
- NM_001407676.1:c.4897A>T
- NM_001407677.1:c.4897A>T
- NM_001407678.1:c.4897A>T
- NM_001407679.1:c.4897A>T
- NM_001407680.1:c.4897A>T
- NM_001407681.1:c.4894A>T
- NM_001407682.1:c.4894A>T
- NM_001407683.1:c.4894A>T
- NM_001407684.1:c.5023A>T
- NM_001407685.1:c.4894A>T
- NM_001407686.1:c.4894A>T
- NM_001407687.1:c.4894A>T
- NM_001407688.1:c.4894A>T
- NM_001407689.1:c.4894A>T
- NM_001407690.1:c.4891A>T
- NM_001407691.1:c.4891A>T
- NM_001407692.1:c.4882A>T
- NM_001407694.1:c.4882A>T
- NM_001407695.1:c.4882A>T
- NM_001407696.1:c.4882A>T
- NM_001407697.1:c.4882A>T
- NM_001407698.1:c.4882A>T
- NM_001407724.1:c.4882A>T
- NM_001407725.1:c.4882A>T
- NM_001407726.1:c.4882A>T
- NM_001407727.1:c.4882A>T
- NM_001407728.1:c.4882A>T
- NM_001407729.1:c.4882A>T
- NM_001407730.1:c.4882A>T
- NM_001407731.1:c.4882A>T
- NM_001407732.1:c.4879A>T
- NM_001407733.1:c.4879A>T
- NM_001407734.1:c.4879A>T
- NM_001407735.1:c.4879A>T
- NM_001407736.1:c.4879A>T
- NM_001407737.1:c.4879A>T
- NM_001407738.1:c.4879A>T
- NM_001407739.1:c.4879A>T
- NM_001407740.1:c.4879A>T
- NM_001407741.1:c.4879A>T
- NM_001407742.1:c.4879A>T
- NM_001407743.1:c.4879A>T
- NM_001407744.1:c.4879A>T
- NM_001407745.1:c.4879A>T
- NM_001407746.1:c.4879A>T
- NM_001407747.1:c.4879A>T
- NM_001407748.1:c.4879A>T
- NM_001407749.1:c.4879A>T
- NM_001407750.1:c.4879A>T
- NM_001407751.1:c.4879A>T
- NM_001407752.1:c.4879A>T
- NM_001407838.1:c.4876A>T
- NM_001407839.1:c.4876A>T
- NM_001407841.1:c.4876A>T
- NM_001407842.1:c.4876A>T
- NM_001407843.1:c.4876A>T
- NM_001407844.1:c.4876A>T
- NM_001407845.1:c.4876A>T
- NM_001407846.1:c.4876A>T
- NM_001407847.1:c.4876A>T
- NM_001407848.1:c.4876A>T
- NM_001407849.1:c.4876A>T
- NM_001407850.1:c.4876A>T
- NM_001407851.1:c.4876A>T
- NM_001407852.1:c.4876A>T
- NM_001407853.1:c.4876A>T
- NM_001407854.1:c.5023A>T
- NM_001407858.1:c.5020A>T
- NM_001407859.1:c.5020A>T
- NM_001407860.1:c.5020A>T
- NM_001407861.1:c.5017A>T
- NM_001407862.1:c.4822A>T
- NM_001407863.1:c.4897A>T
- NM_001407874.1:c.4816A>T
- NM_001407875.1:c.4816A>T
- NM_001407879.1:c.4813A>T
- NM_001407881.1:c.4813A>T
- NM_001407882.1:c.4813A>T
- NM_001407884.1:c.4813A>T
- NM_001407885.1:c.4813A>T
- NM_001407886.1:c.4813A>T
- NM_001407887.1:c.4813A>T
- NM_001407889.1:c.4813A>T
- NM_001407894.1:c.4810A>T
- NM_001407895.1:c.4810A>T
- NM_001407896.1:c.4810A>T
- NM_001407897.1:c.4810A>T
- NM_001407898.1:c.4810A>T
- NM_001407899.1:c.4810A>T
- NM_001407900.1:c.4810A>T
- NM_001407902.1:c.4810A>T
- NM_001407904.1:c.4810A>T
- NM_001407906.1:c.4810A>T
- NM_001407907.1:c.4810A>T
- NM_001407908.1:c.4810A>T
- NM_001407909.1:c.4810A>T
- NM_001407910.1:c.4810A>T
- NM_001407915.1:c.4807A>T
- NM_001407916.1:c.4807A>T
- NM_001407917.1:c.4807A>T
- NM_001407918.1:c.4807A>T
- NM_001407919.1:c.4900A>T
- NM_001407920.1:c.4759A>T
- NM_001407921.1:c.4759A>T
- NM_001407922.1:c.4759A>T
- NM_001407923.1:c.4759A>T
- NM_001407924.1:c.4759A>T
- NM_001407925.1:c.4759A>T
- NM_001407926.1:c.4759A>T
- NM_001407927.1:c.4756A>T
- NM_001407928.1:c.4756A>T
- NM_001407929.1:c.4756A>T
- NM_001407930.1:c.4756A>T
- NM_001407931.1:c.4756A>T
- NM_001407932.1:c.4756A>T
- NM_001407933.1:c.4756A>T
- NM_001407934.1:c.4753A>T
- NM_001407935.1:c.4753A>T
- NM_001407936.1:c.4753A>T
- NM_001407937.1:c.4900A>T
- NM_001407938.1:c.4900A>T
- NM_001407939.1:c.4897A>T
- NM_001407940.1:c.4897A>T
- NM_001407941.1:c.4894A>T
- NM_001407942.1:c.4882A>T
- NM_001407943.1:c.4879A>T
- NM_001407944.1:c.4879A>T
- NM_001407945.1:c.4879A>T
- NM_001407946.1:c.4690A>T
- NM_001407947.1:c.4690A>T
- NM_001407948.1:c.4690A>T
- NM_001407949.1:c.4690A>T
- NM_001407950.1:c.4687A>T
- NM_001407951.1:c.4687A>T
- NM_001407952.1:c.4687A>T
- NM_001407953.1:c.4687A>T
- NM_001407954.1:c.4687A>T
- NM_001407955.1:c.4687A>T
- NM_001407956.1:c.4684A>T
- NM_001407957.1:c.4684A>T
- NM_001407958.1:c.4684A>T
- NM_001407959.1:c.4642A>T
- NM_001407960.1:c.4639A>T
- NM_001407962.1:c.4639A>T
- NM_001407963.1:c.4636A>T
- NM_001407964.1:c.4561A>T
- NM_001407965.1:c.4516A>T
- NM_001407966.1:c.4135A>T
- NM_001407967.1:c.4132A>T
- NM_001407968.1:c.2419A>T
- NM_001407969.1:c.2416A>T
- NM_001407970.1:c.1780A>T
- NM_001407971.1:c.1780A>T
- NM_001407972.1:c.1777A>T
- NM_001407973.1:c.1714A>T
- NM_001407974.1:c.1714A>T
- NM_001407975.1:c.1714A>T
- NM_001407976.1:c.1714A>T
- NM_001407977.1:c.1714A>T
- NM_001407978.1:c.1714A>T
- NM_001407979.1:c.1711A>T
- NM_001407980.1:c.1711A>T
- NM_001407981.1:c.1711A>T
- NM_001407982.1:c.1711A>T
- NM_001407983.1:c.1711A>T
- NM_001407984.1:c.1711A>T
- NM_001407985.1:c.1711A>T
- NM_001407986.1:c.1711A>T
- NM_001407990.1:c.1711A>T
- NM_001407991.1:c.1711A>T
- NM_001407992.1:c.1711A>T
- NM_001407993.1:c.1711A>T
- NM_001408392.1:c.1708A>T
- NM_001408396.1:c.1708A>T
- NM_001408397.1:c.1708A>T
- NM_001408398.1:c.1708A>T
- NM_001408399.1:c.1708A>T
- NM_001408400.1:c.1708A>T
- NM_001408401.1:c.1708A>T
- NM_001408402.1:c.1708A>T
- NM_001408403.1:c.1708A>T
- NM_001408404.1:c.1708A>T
- NM_001408406.1:c.1705A>T
- NM_001408407.1:c.1705A>T
- NM_001408408.1:c.1705A>T
- NM_001408409.1:c.1702A>T
- NM_001408410.1:c.1639A>T
- NM_001408411.1:c.1636A>T
- NM_001408412.1:c.1633A>T
- NM_001408413.1:c.1633A>T
- NM_001408414.1:c.1633A>T
- NM_001408415.1:c.1633A>T
- NM_001408416.1:c.1633A>T
- NM_001408418.1:c.1597A>T
- NM_001408419.1:c.1597A>T
- NM_001408420.1:c.1597A>T
- NM_001408421.1:c.1594A>T
- NM_001408422.1:c.1594A>T
- NM_001408423.1:c.1594A>T
- NM_001408424.1:c.1594A>T
- NM_001408425.1:c.1591A>T
- NM_001408426.1:c.1591A>T
- NM_001408427.1:c.1591A>T
- NM_001408428.1:c.1591A>T
- NM_001408429.1:c.1591A>T
- NM_001408430.1:c.1591A>T
- NM_001408431.1:c.1591A>T
- NM_001408432.1:c.1588A>T
- NM_001408433.1:c.1588A>T
- NM_001408434.1:c.1588A>T
- NM_001408435.1:c.1588A>T
- NM_001408436.1:c.1588A>T
- NM_001408437.1:c.1588A>T
- NM_001408438.1:c.1588A>T
- NM_001408439.1:c.1588A>T
- NM_001408440.1:c.1588A>T
- NM_001408441.1:c.1588A>T
- NM_001408442.1:c.1588A>T
- NM_001408443.1:c.1588A>T
- NM_001408444.1:c.1588A>T
- NM_001408445.1:c.1585A>T
- NM_001408446.1:c.1585A>T
- NM_001408447.1:c.1585A>T
- NM_001408448.1:c.1585A>T
- NM_001408450.1:c.1585A>T
- NM_001408451.1:c.1579A>T
- NM_001408452.1:c.1573A>T
- NM_001408453.1:c.1573A>T
- NM_001408454.1:c.1573A>T
- NM_001408455.1:c.1573A>T
- NM_001408456.1:c.1573A>T
- NM_001408457.1:c.1573A>T
- NM_001408458.1:c.1570A>T
- NM_001408459.1:c.1570A>T
- NM_001408460.1:c.1570A>T
- NM_001408461.1:c.1570A>T
- NM_001408462.1:c.1570A>T
- NM_001408463.1:c.1570A>T
- NM_001408464.1:c.1570A>T
- NM_001408465.1:c.1570A>T
- NM_001408466.1:c.1570A>T
- NM_001408467.1:c.1570A>T
- NM_001408468.1:c.1567A>T
- NM_001408469.1:c.1567A>T
- NM_001408470.1:c.1567A>T
- NM_001408472.1:c.1711A>T
- NM_001408473.1:c.1708A>T
- NM_001408474.1:c.1513A>T
- NM_001408475.1:c.1510A>T
- NM_001408476.1:c.1510A>T
- NM_001408478.1:c.1504A>T
- NM_001408479.1:c.1504A>T
- NM_001408480.1:c.1504A>T
- NM_001408481.1:c.1501A>T
- NM_001408482.1:c.1501A>T
- NM_001408483.1:c.1501A>T
- NM_001408484.1:c.1501A>T
- NM_001408485.1:c.1501A>T
- NM_001408489.1:c.1501A>T
- NM_001408490.1:c.1501A>T
- NM_001408491.1:c.1501A>T
- NM_001408492.1:c.1498A>T
- NM_001408493.1:c.1498A>T
- NM_001408494.1:c.1474A>T
- NM_001408495.1:c.1468A>T
- NM_001408496.1:c.1450A>T
- NM_001408497.1:c.1450A>T
- NM_001408498.1:c.1450A>T
- NM_001408499.1:c.1450A>T
- NM_001408500.1:c.1450A>T
- NM_001408501.1:c.1450A>T
- NM_001408502.1:c.1447A>T
- NM_001408503.1:c.1447A>T
- NM_001408504.1:c.1447A>T
- NM_001408505.1:c.1444A>T
- NM_001408506.1:c.1387A>T
- NM_001408507.1:c.1384A>T
- NM_001408508.1:c.1375A>T
- NM_001408509.1:c.1372A>T
- NM_001408510.1:c.1333A>T
- NM_001408511.1:c.1330A>T
- NM_001408512.1:c.1210A>T
- NM_001408513.1:c.1183A>T
- NM_007294.4:c.5023A>TMANE SELECT
- NM_007297.4:c.4882A>T
- NM_007298.4:c.1711A>T
- NM_007299.4:c.1711A>T
- NM_007300.4:c.5086A>T
- NM_007304.2:c.1711A>T
- NP_001394500.1:p.Thr1604Ser
- NP_001394510.1:p.Thr1697Ser
- NP_001394511.1:p.Thr1697Ser
- NP_001394512.1:p.Thr1696Ser
- NP_001394514.1:p.Thr1696Ser
- NP_001394516.1:p.Thr1696Ser
- NP_001394519.1:p.Thr1695Ser
- NP_001394520.1:p.Thr1695Ser
- NP_001394522.1:p.Thr1675Ser
- NP_001394523.1:p.Thr1675Ser
- NP_001394525.1:p.Thr1675Ser
- NP_001394526.1:p.Thr1675Ser
- NP_001394527.1:p.Thr1675Ser
- NP_001394531.1:p.Thr1675Ser
- NP_001394532.1:p.Thr1675Ser
- NP_001394534.1:p.Thr1675Ser
- NP_001394539.1:p.Thr1674Ser
- NP_001394540.1:p.Thr1674Ser
- NP_001394541.1:p.Thr1674Ser
- NP_001394542.1:p.Thr1674Ser
- NP_001394543.1:p.Thr1674Ser
- NP_001394544.1:p.Thr1674Ser
- NP_001394545.1:p.Thr1674Ser
- NP_001394546.1:p.Thr1674Ser
- NP_001394547.1:p.Thr1674Ser
- NP_001394548.1:p.Thr1674Ser
- NP_001394549.1:p.Thr1674Ser
- NP_001394550.1:p.Thr1674Ser
- NP_001394551.1:p.Thr1674Ser
- NP_001394552.1:p.Thr1674Ser
- NP_001394553.1:p.Thr1674Ser
- NP_001394554.1:p.Thr1674Ser
- NP_001394555.1:p.Thr1674Ser
- NP_001394556.1:p.Thr1673Ser
- NP_001394557.1:p.Thr1673Ser
- NP_001394558.1:p.Thr1673Ser
- NP_001394559.1:p.Thr1673Ser
- NP_001394560.1:p.Thr1673Ser
- NP_001394561.1:p.Thr1673Ser
- NP_001394562.1:p.Thr1673Ser
- NP_001394563.1:p.Thr1673Ser
- NP_001394564.1:p.Thr1673Ser
- NP_001394565.1:p.Thr1673Ser
- NP_001394566.1:p.Thr1673Ser
- NP_001394567.1:p.Thr1673Ser
- NP_001394568.1:p.Thr1673Ser
- NP_001394569.1:p.Thr1673Ser
- NP_001394570.1:p.Thr1673Ser
- NP_001394571.1:p.Thr1673Ser
- NP_001394573.1:p.Thr1672Ser
- NP_001394574.1:p.Thr1672Ser
- NP_001394575.1:p.Thr1671Ser
- NP_001394576.1:p.Thr1670Ser
- NP_001394577.1:p.Thr1656Ser
- NP_001394578.1:p.Thr1655Ser
- NP_001394581.1:p.Thr1675Ser
- NP_001394582.1:p.Thr1649Ser
- NP_001394583.1:p.Thr1649Ser
- NP_001394584.1:p.Thr1649Ser
- NP_001394585.1:p.Thr1648Ser
- NP_001394586.1:p.Thr1648Ser
- NP_001394587.1:p.Thr1648Ser
- NP_001394588.1:p.Thr1647Ser
- NP_001394589.1:p.Thr1647Ser
- NP_001394590.1:p.Thr1647Ser
- NP_001394591.1:p.Thr1647Ser
- NP_001394592.1:p.Thr1647Ser
- NP_001394593.1:p.Thr1634Ser
- NP_001394594.1:p.Thr1634Ser
- NP_001394595.1:p.Thr1634Ser
- NP_001394596.1:p.Thr1634Ser
- NP_001394597.1:p.Thr1634Ser
- NP_001394598.1:p.Thr1634Ser
- NP_001394599.1:p.Thr1633Ser
- NP_001394600.1:p.Thr1633Ser
- NP_001394601.1:p.Thr1633Ser
- NP_001394602.1:p.Thr1633Ser
- NP_001394603.1:p.Thr1633Ser
- NP_001394604.1:p.Thr1633Ser
- NP_001394605.1:p.Thr1633Ser
- NP_001394606.1:p.Thr1633Ser
- NP_001394607.1:p.Thr1633Ser
- NP_001394608.1:p.Thr1633Ser
- NP_001394609.1:p.Thr1633Ser
- NP_001394610.1:p.Thr1632Ser
- NP_001394611.1:p.Thr1632Ser
- NP_001394612.1:p.Thr1632Ser
- NP_001394613.1:p.Thr1675Ser
- NP_001394614.1:p.Thr1632Ser
- NP_001394615.1:p.Thr1632Ser
- NP_001394616.1:p.Thr1632Ser
- NP_001394617.1:p.Thr1632Ser
- NP_001394618.1:p.Thr1632Ser
- NP_001394619.1:p.Thr1631Ser
- NP_001394620.1:p.Thr1631Ser
- NP_001394621.1:p.Thr1628Ser
- NP_001394623.1:p.Thr1628Ser
- NP_001394624.1:p.Thr1628Ser
- NP_001394625.1:p.Thr1628Ser
- NP_001394626.1:p.Thr1628Ser
- NP_001394627.1:p.Thr1628Ser
- NP_001394653.1:p.Thr1628Ser
- NP_001394654.1:p.Thr1628Ser
- NP_001394655.1:p.Thr1628Ser
- NP_001394656.1:p.Thr1628Ser
- NP_001394657.1:p.Thr1628Ser
- NP_001394658.1:p.Thr1628Ser
- NP_001394659.1:p.Thr1628Ser
- NP_001394660.1:p.Thr1628Ser
- NP_001394661.1:p.Thr1627Ser
- NP_001394662.1:p.Thr1627Ser
- NP_001394663.1:p.Thr1627Ser
- NP_001394664.1:p.Thr1627Ser
- NP_001394665.1:p.Thr1627Ser
- NP_001394666.1:p.Thr1627Ser
- NP_001394667.1:p.Thr1627Ser
- NP_001394668.1:p.Thr1627Ser
- NP_001394669.1:p.Thr1627Ser
- NP_001394670.1:p.Thr1627Ser
- NP_001394671.1:p.Thr1627Ser
- NP_001394672.1:p.Thr1627Ser
- NP_001394673.1:p.Thr1627Ser
- NP_001394674.1:p.Thr1627Ser
- NP_001394675.1:p.Thr1627Ser
- NP_001394676.1:p.Thr1627Ser
- NP_001394677.1:p.Thr1627Ser
- NP_001394678.1:p.Thr1627Ser
- NP_001394679.1:p.Thr1627Ser
- NP_001394680.1:p.Thr1627Ser
- NP_001394681.1:p.Thr1627Ser
- NP_001394767.1:p.Thr1626Ser
- NP_001394768.1:p.Thr1626Ser
- NP_001394770.1:p.Thr1626Ser
- NP_001394771.1:p.Thr1626Ser
- NP_001394772.1:p.Thr1626Ser
- NP_001394773.1:p.Thr1626Ser
- NP_001394774.1:p.Thr1626Ser
- NP_001394775.1:p.Thr1626Ser
- NP_001394776.1:p.Thr1626Ser
- NP_001394777.1:p.Thr1626Ser
- NP_001394778.1:p.Thr1626Ser
- NP_001394779.1:p.Thr1626Ser
- NP_001394780.1:p.Thr1626Ser
- NP_001394781.1:p.Thr1626Ser
- NP_001394782.1:p.Thr1626Ser
- NP_001394783.1:p.Thr1675Ser
- NP_001394787.1:p.Thr1674Ser
- NP_001394788.1:p.Thr1674Ser
- NP_001394789.1:p.Thr1674Ser
- NP_001394790.1:p.Thr1673Ser
- NP_001394791.1:p.Thr1608Ser
- NP_001394792.1:p.Thr1633Ser
- NP_001394803.1:p.Thr1606Ser
- NP_001394804.1:p.Thr1606Ser
- NP_001394808.1:p.Thr1605Ser
- NP_001394810.1:p.Thr1605Ser
- NP_001394811.1:p.Thr1605Ser
- NP_001394813.1:p.Thr1605Ser
- NP_001394814.1:p.Thr1605Ser
- NP_001394815.1:p.Thr1605Ser
- NP_001394816.1:p.Thr1605Ser
- NP_001394818.1:p.Thr1605Ser
- NP_001394823.1:p.Thr1604Ser
- NP_001394824.1:p.Thr1604Ser
- NP_001394825.1:p.Thr1604Ser
- NP_001394826.1:p.Thr1604Ser
- NP_001394827.1:p.Thr1604Ser
- NP_001394828.1:p.Thr1604Ser
- NP_001394829.1:p.Thr1604Ser
- NP_001394831.1:p.Thr1604Ser
- NP_001394833.1:p.Thr1604Ser
- NP_001394835.1:p.Thr1604Ser
- NP_001394836.1:p.Thr1604Ser
- NP_001394837.1:p.Thr1604Ser
- NP_001394838.1:p.Thr1604Ser
- NP_001394839.1:p.Thr1604Ser
- NP_001394844.1:p.Thr1603Ser
- NP_001394845.1:p.Thr1603Ser
- NP_001394846.1:p.Thr1603Ser
- NP_001394847.1:p.Thr1603Ser
- NP_001394848.1:p.Thr1634Ser
- NP_001394849.1:p.Thr1587Ser
- NP_001394850.1:p.Thr1587Ser
- NP_001394851.1:p.Thr1587Ser
- NP_001394852.1:p.Thr1587Ser
- NP_001394853.1:p.Thr1587Ser
- NP_001394854.1:p.Thr1587Ser
- NP_001394855.1:p.Thr1587Ser
- NP_001394856.1:p.Thr1586Ser
- NP_001394857.1:p.Thr1586Ser
- NP_001394858.1:p.Thr1586Ser
- NP_001394859.1:p.Thr1586Ser
- NP_001394860.1:p.Thr1586Ser
- NP_001394861.1:p.Thr1586Ser
- NP_001394862.1:p.Thr1586Ser
- NP_001394863.1:p.Thr1585Ser
- NP_001394864.1:p.Thr1585Ser
- NP_001394865.1:p.Thr1585Ser
- NP_001394866.1:p.Thr1634Ser
- NP_001394867.1:p.Thr1634Ser
- NP_001394868.1:p.Thr1633Ser
- NP_001394869.1:p.Thr1633Ser
- NP_001394870.1:p.Thr1632Ser
- NP_001394871.1:p.Thr1628Ser
- NP_001394872.1:p.Thr1627Ser
- NP_001394873.1:p.Thr1627Ser
- NP_001394874.1:p.Thr1627Ser
- NP_001394875.1:p.Thr1564Ser
- NP_001394876.1:p.Thr1564Ser
- NP_001394877.1:p.Thr1564Ser
- NP_001394878.1:p.Thr1564Ser
- NP_001394879.1:p.Thr1563Ser
- NP_001394880.1:p.Thr1563Ser
- NP_001394881.1:p.Thr1563Ser
- NP_001394882.1:p.Thr1563Ser
- NP_001394883.1:p.Thr1563Ser
- NP_001394884.1:p.Thr1563Ser
- NP_001394885.1:p.Thr1562Ser
- NP_001394886.1:p.Thr1562Ser
- NP_001394887.1:p.Thr1562Ser
- NP_001394888.1:p.Thr1548Ser
- NP_001394889.1:p.Thr1547Ser
- NP_001394891.1:p.Thr1547Ser
- NP_001394892.1:p.Thr1546Ser
- NP_001394893.1:p.Thr1521Ser
- NP_001394894.1:p.Thr1506Ser
- NP_001394895.1:p.Thr1379Ser
- NP_001394896.1:p.Thr1378Ser
- NP_001394897.1:p.Thr807Ser
- NP_001394898.1:p.Thr806Ser
- NP_001394899.1:p.Thr594Ser
- NP_001394900.1:p.Thr594Ser
- NP_001394901.1:p.Thr593Ser
- NP_001394902.1:p.Thr572Ser
- NP_001394903.1:p.Thr572Ser
- NP_001394904.1:p.Thr572Ser
- NP_001394905.1:p.Thr572Ser
- NP_001394906.1:p.Thr572Ser
- NP_001394907.1:p.Thr572Ser
- NP_001394908.1:p.Thr571Ser
- NP_001394909.1:p.Thr571Ser
- NP_001394910.1:p.Thr571Ser
- NP_001394911.1:p.Thr571Ser
- NP_001394912.1:p.Thr571Ser
- NP_001394913.1:p.Thr571Ser
- NP_001394914.1:p.Thr571Ser
- NP_001394915.1:p.Thr571Ser
- NP_001394919.1:p.Thr571Ser
- NP_001394920.1:p.Thr571Ser
- NP_001394921.1:p.Thr571Ser
- NP_001394922.1:p.Thr571Ser
- NP_001395321.1:p.Thr570Ser
- NP_001395325.1:p.Thr570Ser
- NP_001395326.1:p.Thr570Ser
- NP_001395327.1:p.Thr570Ser
- NP_001395328.1:p.Thr570Ser
- NP_001395329.1:p.Thr570Ser
- NP_001395330.1:p.Thr570Ser
- NP_001395331.1:p.Thr570Ser
- NP_001395332.1:p.Thr570Ser
- NP_001395333.1:p.Thr570Ser
- NP_001395335.1:p.Thr569Ser
- NP_001395336.1:p.Thr569Ser
- NP_001395337.1:p.Thr569Ser
- NP_001395338.1:p.Thr568Ser
- NP_001395339.1:p.Thr547Ser
- NP_001395340.1:p.Thr546Ser
- NP_001395341.1:p.Thr545Ser
- NP_001395342.1:p.Thr545Ser
- NP_001395343.1:p.Thr545Ser
- NP_001395344.1:p.Thr545Ser
- NP_001395345.1:p.Thr545Ser
- NP_001395347.1:p.Thr533Ser
- NP_001395348.1:p.Thr533Ser
- NP_001395349.1:p.Thr533Ser
- NP_001395350.1:p.Thr532Ser
- NP_001395351.1:p.Thr532Ser
- NP_001395352.1:p.Thr532Ser
- NP_001395353.1:p.Thr532Ser
- NP_001395354.1:p.Thr531Ser
- NP_001395355.1:p.Thr531Ser
- NP_001395356.1:p.Thr531Ser
- NP_001395357.1:p.Thr531Ser
- NP_001395358.1:p.Thr531Ser
- NP_001395359.1:p.Thr531Ser
- NP_001395360.1:p.Thr531Ser
- NP_001395361.1:p.Thr530Ser
- NP_001395362.1:p.Thr530Ser
- NP_001395363.1:p.Thr530Ser
- NP_001395364.1:p.Thr530Ser
- NP_001395365.1:p.Thr530Ser
- NP_001395366.1:p.Thr530Ser
- NP_001395367.1:p.Thr530Ser
- NP_001395368.1:p.Thr530Ser
- NP_001395369.1:p.Thr530Ser
- NP_001395370.1:p.Thr530Ser
- NP_001395371.1:p.Thr530Ser
- NP_001395372.1:p.Thr530Ser
- NP_001395373.1:p.Thr530Ser
- NP_001395374.1:p.Thr529Ser
- NP_001395375.1:p.Thr529Ser
- NP_001395376.1:p.Thr529Ser
- NP_001395377.1:p.Thr529Ser
- NP_001395379.1:p.Thr529Ser
- NP_001395380.1:p.Thr527Ser
- NP_001395381.1:p.Thr525Ser
- NP_001395382.1:p.Thr525Ser
- NP_001395383.1:p.Thr525Ser
- NP_001395384.1:p.Thr525Ser
- NP_001395385.1:p.Thr525Ser
- NP_001395386.1:p.Thr525Ser
- NP_001395387.1:p.Thr524Ser
- NP_001395388.1:p.Thr524Ser
- NP_001395389.1:p.Thr524Ser
- NP_001395390.1:p.Thr524Ser
- NP_001395391.1:p.Thr524Ser
- NP_001395392.1:p.Thr524Ser
- NP_001395393.1:p.Thr524Ser
- NP_001395394.1:p.Thr524Ser
- NP_001395395.1:p.Thr524Ser
- NP_001395396.1:p.Thr524Ser
- NP_001395397.1:p.Thr523Ser
- NP_001395398.1:p.Thr523Ser
- NP_001395399.1:p.Thr523Ser
- NP_001395401.1:p.Thr571Ser
- NP_001395402.1:p.Thr570Ser
- NP_001395403.1:p.Thr505Ser
- NP_001395404.1:p.Thr504Ser
- NP_001395405.1:p.Thr504Ser
- NP_001395407.1:p.Thr502Ser
- NP_001395408.1:p.Thr502Ser
- NP_001395409.1:p.Thr502Ser
- NP_001395410.1:p.Thr501Ser
- NP_001395411.1:p.Thr501Ser
- NP_001395412.1:p.Thr501Ser
- NP_001395413.1:p.Thr501Ser
- NP_001395414.1:p.Thr501Ser
- NP_001395418.1:p.Thr501Ser
- NP_001395419.1:p.Thr501Ser
- NP_001395420.1:p.Thr501Ser
- NP_001395421.1:p.Thr500Ser
- NP_001395422.1:p.Thr500Ser
- NP_001395423.1:p.Thr492Ser
- NP_001395424.1:p.Thr490Ser
- NP_001395425.1:p.Thr484Ser
- NP_001395426.1:p.Thr484Ser
- NP_001395427.1:p.Thr484Ser
- NP_001395428.1:p.Thr484Ser
- NP_001395429.1:p.Thr484Ser
- NP_001395430.1:p.Thr484Ser
- NP_001395431.1:p.Thr483Ser
- NP_001395432.1:p.Thr483Ser
- NP_001395433.1:p.Thr483Ser
- NP_001395434.1:p.Thr482Ser
- NP_001395435.1:p.Thr463Ser
- NP_001395436.1:p.Thr462Ser
- NP_001395437.1:p.Thr459Ser
- NP_001395438.1:p.Thr458Ser
- NP_001395439.1:p.Thr445Ser
- NP_001395440.1:p.Thr444Ser
- NP_001395441.1:p.Thr404Ser
- NP_001395442.1:p.Thr395Ser
- NP_009225.1:p.Thr1675Ser
- NP_009225.1:p.Thr1675Ser
- NP_009228.2:p.Thr1628Ser
- NP_009229.2:p.Thr571Ser
- NP_009229.2:p.Thr571Ser
- NP_009230.2:p.Thr571Ser
- NP_009231.2:p.Thr1696Ser
- NP_009235.2:p.Thr571Ser
- LRG_292t1:c.5023A>T
- LRG_292:g.150325A>T
- LRG_292p1:p.Thr1675Ser
- NC_000017.10:g.41219676T>A
- NM_007294.3:c.5023A>T
- NM_007298.3:c.1711A>T
- NR_027676.2:n.5200A>T
This HGVS expression did not pass validation- Protein change:
- T1378S
- Links:
- dbSNP: rs774452090
- NCBI 1000 Genomes Browser:
- rs774452090
- Molecular consequence:
- NM_001407571.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.5089A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.5089A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.5086A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.5086A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.5086A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.5083A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.5083A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.5014A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.5014A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.5011A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.5008A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.4966A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.4963A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.4945A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.4945A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.4945A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.4942A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.4942A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.4942A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.4939A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.4939A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.4939A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.4939A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.4939A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.4900A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.4900A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.4900A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.4900A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.4900A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.4900A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.4894A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.4894A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.4894A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.4894A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.4894A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.4894A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.4894A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.4894A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.4891A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.4891A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.4876A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.5020A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.5017A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.4822A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.4816A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.4816A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.4813A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.4813A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.4813A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.4813A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.4813A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.4813A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.4813A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.4813A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.4810A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.4807A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.4807A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.4807A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.4807A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.4900A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.4759A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.4759A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.4759A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.4759A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.4759A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.4759A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.4759A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.4756A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.4756A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.4756A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.4756A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.4756A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.4756A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.4756A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.4753A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.4753A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.4753A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.4900A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.4900A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.4897A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.4894A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.4879A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.4690A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.4690A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.4690A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.4690A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.4687A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.4687A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.4687A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.4687A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.4687A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.4687A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.4684A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.4684A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.4684A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.4642A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.4639A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.4639A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.4636A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.4561A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.4516A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.4135A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.4132A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.2419A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.2416A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.1780A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.1780A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.1777A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.1714A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.1714A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.1714A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.1714A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.1714A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.1714A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.1708A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.1708A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.1708A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.1708A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.1708A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.1708A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.1708A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.1708A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.1708A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.1708A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.1705A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.1705A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.1705A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.1702A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.1639A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.1636A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.1633A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.1633A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.1633A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.1633A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.1633A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.1597A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.1597A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.1597A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.1594A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.1594A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.1594A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.1594A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.1591A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.1591A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.1591A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.1591A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.1591A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.1591A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.1591A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.1588A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.1585A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.1585A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.1585A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.1585A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.1585A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408451.1:c.1579A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.1573A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.1573A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.1573A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.1573A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.1573A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.1573A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.1570A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.1570A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.1570A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.1570A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.1570A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.1570A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.1570A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.1570A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.1570A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.1570A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.1567A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.1567A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.1567A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.1708A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.1513A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.1510A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.1510A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408478.1:c.1504A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408479.1:c.1504A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408480.1:c.1504A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408481.1:c.1501A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408482.1:c.1501A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408483.1:c.1501A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408484.1:c.1501A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408485.1:c.1501A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408489.1:c.1501A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408490.1:c.1501A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408491.1:c.1501A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408492.1:c.1498A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408493.1:c.1498A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.1474A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.1468A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.1450A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.1450A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.1450A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.1450A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.1450A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.1450A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408502.1:c.1447A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.1447A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.1447A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.1444A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408506.1:c.1387A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408507.1:c.1384A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408508.1:c.1375A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408509.1:c.1372A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408510.1:c.1333A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408511.1:c.1330A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408512.1:c.1210A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408513.1:c.1183A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.5023A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.4882A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.5086A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.1711A>T - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.5200A>T - 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.5023A>T, a MISSENSE variant, produced a function score of 0.21, 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.
- Observations:
- 1
Condition(s)
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001241973 | Brotman Baty Institute, University of Washington | no classification provided | not provided | not applicable | in vitro | |
SCV004817602 | All of Us Research Program, National Institutes of Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain Significance (May 4, 2023) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | not applicable | not applicable | not provided | not provided | not provided | not provided | not provided | in vitro |
not provided | germline | unknown | 1 | not provided | not provided | 108544 | not provided | clinical testing |
Citations
PubMed
Stefansson OA, Jonasson JG, Olafsdottir K, Hilmarsdottir H, Olafsdottir G, Esteller M, Johannsson OT, Eyfjord JE.
Epigenetics. 2011 May;6(5):638-49. doi: 10.4161/epi.6.5.15667.
- PMID:
- 21593597
- PMCID:
- PMC3121973
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.
Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.
- PMID:
- 30209399
- PMCID:
- PMC6181777
Details of each submission
From Brotman Baty Institute, University of Washington, SCV001241973.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | in vitro | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | not applicable | not applicable | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From All of Us Research Program, National Institutes of Health, SCV004817602.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (4) |
Description
This missense variant replaces threonine with serine at codon 1675 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). A functional study has reported that this variant does not impact BRCA1 function in a haploid human cell proliferation assay (PMID: 30209399). This variant has been reported in at least two individuals affected with breast cancer (PMID: 21593597) and detected in a breast cancer case-control meta-analysis in 1/60463 cases and 0/53461 unaffected individuals (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_006177). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is 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 | 108544 | not provided | not provided | 1 | not provided | not provided | not provided |
Last Updated: Oct 8, 2024