NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg) AND not provided
- Germline classification:
- Pathogenic/Likely pathogenic (4 submissions)
- Last evaluated:
- Sep 21, 2023
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- 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:
- RCV000483050.12
Allele description [Variation Report for NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg)]
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg)
- 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.5057A>G (p.His1686Arg)
- HGVS:
- NC_000017.11:g.43067625T>C
- NG_005905.2:g.150359A>G
- NM_001407571.1:c.4844A>G
- NM_001407581.1:c.5123A>G
- NM_001407582.1:c.5123A>G
- NM_001407583.1:c.5120A>G
- NM_001407585.1:c.5120A>G
- NM_001407587.1:c.5120A>G
- NM_001407590.1:c.5117A>G
- NM_001407591.1:c.5117A>G
- NM_001407593.1:c.5057A>G
- NM_001407594.1:c.5057A>G
- NM_001407596.1:c.5057A>G
- NM_001407597.1:c.5057A>G
- NM_001407598.1:c.5057A>G
- NM_001407602.1:c.5057A>G
- NM_001407603.1:c.5057A>G
- NM_001407605.1:c.5057A>G
- NM_001407610.1:c.5054A>G
- NM_001407611.1:c.5054A>G
- NM_001407612.1:c.5054A>G
- NM_001407613.1:c.5054A>G
- NM_001407614.1:c.5054A>G
- NM_001407615.1:c.5054A>G
- NM_001407616.1:c.5054A>G
- NM_001407617.1:c.5054A>G
- NM_001407618.1:c.5054A>G
- NM_001407619.1:c.5054A>G
- NM_001407620.1:c.5054A>G
- NM_001407621.1:c.5054A>G
- NM_001407622.1:c.5054A>G
- NM_001407623.1:c.5054A>G
- NM_001407624.1:c.5054A>G
- NM_001407625.1:c.5054A>G
- NM_001407626.1:c.5054A>G
- NM_001407627.1:c.5051A>G
- NM_001407628.1:c.5051A>G
- NM_001407629.1:c.5051A>G
- NM_001407630.1:c.5051A>G
- NM_001407631.1:c.5051A>G
- NM_001407632.1:c.5051A>G
- NM_001407633.1:c.5051A>G
- NM_001407634.1:c.5051A>G
- NM_001407635.1:c.5051A>G
- NM_001407636.1:c.5051A>G
- NM_001407637.1:c.5051A>G
- NM_001407638.1:c.5051A>G
- NM_001407639.1:c.5051A>G
- NM_001407640.1:c.5051A>G
- NM_001407641.1:c.5051A>G
- NM_001407642.1:c.5051A>G
- NM_001407644.1:c.5048A>G
- NM_001407645.1:c.5048A>G
- NM_001407646.1:c.5045A>G
- NM_001407647.1:c.5042A>G
- NM_001407648.1:c.5000A>G
- NM_001407649.1:c.4997A>G
- NM_001407652.1:c.5057A>G
- NM_001407653.1:c.4979A>G
- NM_001407654.1:c.4979A>G
- NM_001407655.1:c.4979A>G
- NM_001407656.1:c.4976A>G
- NM_001407657.1:c.4976A>G
- NM_001407658.1:c.4976A>G
- NM_001407659.1:c.4973A>G
- NM_001407660.1:c.4973A>G
- NM_001407661.1:c.4973A>G
- NM_001407662.1:c.4973A>G
- NM_001407663.1:c.4973A>G
- NM_001407664.1:c.4934A>G
- NM_001407665.1:c.4934A>G
- NM_001407666.1:c.4934A>G
- NM_001407667.1:c.4934A>G
- NM_001407668.1:c.4934A>G
- NM_001407669.1:c.4934A>G
- NM_001407670.1:c.4931A>G
- NM_001407671.1:c.4931A>G
- NM_001407672.1:c.4931A>G
- NM_001407673.1:c.4931A>G
- NM_001407674.1:c.4931A>G
- NM_001407675.1:c.4931A>G
- NM_001407676.1:c.4931A>G
- NM_001407677.1:c.4931A>G
- NM_001407678.1:c.4931A>G
- NM_001407679.1:c.4931A>G
- NM_001407680.1:c.4931A>G
- NM_001407681.1:c.4928A>G
- NM_001407682.1:c.4928A>G
- NM_001407683.1:c.4928A>G
- NM_001407684.1:c.5057A>G
- NM_001407685.1:c.4928A>G
- NM_001407686.1:c.4928A>G
- NM_001407687.1:c.4928A>G
- NM_001407688.1:c.4928A>G
- NM_001407689.1:c.4928A>G
- NM_001407690.1:c.4925A>G
- NM_001407691.1:c.4925A>G
- NM_001407692.1:c.4916A>G
- NM_001407694.1:c.4916A>G
- NM_001407695.1:c.4916A>G
- NM_001407696.1:c.4916A>G
- NM_001407697.1:c.4916A>G
- NM_001407698.1:c.4916A>G
- NM_001407724.1:c.4916A>G
- NM_001407725.1:c.4916A>G
- NM_001407726.1:c.4916A>G
- NM_001407727.1:c.4916A>G
- NM_001407728.1:c.4916A>G
- NM_001407729.1:c.4916A>G
- NM_001407730.1:c.4916A>G
- NM_001407731.1:c.4916A>G
- NM_001407732.1:c.4913A>G
- NM_001407733.1:c.4913A>G
- NM_001407734.1:c.4913A>G
- NM_001407735.1:c.4913A>G
- NM_001407736.1:c.4913A>G
- NM_001407737.1:c.4913A>G
- NM_001407738.1:c.4913A>G
- NM_001407739.1:c.4913A>G
- NM_001407740.1:c.4913A>G
- NM_001407741.1:c.4913A>G
- NM_001407742.1:c.4913A>G
- NM_001407743.1:c.4913A>G
- NM_001407744.1:c.4913A>G
- NM_001407745.1:c.4913A>G
- NM_001407746.1:c.4913A>G
- NM_001407747.1:c.4913A>G
- NM_001407748.1:c.4913A>G
- NM_001407749.1:c.4913A>G
- NM_001407750.1:c.4913A>G
- NM_001407751.1:c.4913A>G
- NM_001407752.1:c.4913A>G
- NM_001407838.1:c.4910A>G
- NM_001407839.1:c.4910A>G
- NM_001407841.1:c.4910A>G
- NM_001407842.1:c.4910A>G
- NM_001407843.1:c.4910A>G
- NM_001407844.1:c.4910A>G
- NM_001407845.1:c.4910A>G
- NM_001407846.1:c.4910A>G
- NM_001407847.1:c.4910A>G
- NM_001407848.1:c.4910A>G
- NM_001407849.1:c.4910A>G
- NM_001407850.1:c.4910A>G
- NM_001407851.1:c.4910A>G
- NM_001407852.1:c.4910A>G
- NM_001407853.1:c.4910A>G
- NM_001407854.1:c.5057A>G
- NM_001407858.1:c.5054A>G
- NM_001407859.1:c.5054A>G
- NM_001407860.1:c.5054A>G
- NM_001407861.1:c.5051A>G
- NM_001407862.1:c.4856A>G
- NM_001407863.1:c.4931A>G
- NM_001407874.1:c.4850A>G
- NM_001407875.1:c.4850A>G
- NM_001407879.1:c.4847A>G
- NM_001407881.1:c.4847A>G
- NM_001407882.1:c.4847A>G
- NM_001407884.1:c.4847A>G
- NM_001407885.1:c.4847A>G
- NM_001407886.1:c.4847A>G
- NM_001407887.1:c.4847A>G
- NM_001407889.1:c.4847A>G
- NM_001407894.1:c.4844A>G
- NM_001407895.1:c.4844A>G
- NM_001407896.1:c.4844A>G
- NM_001407897.1:c.4844A>G
- NM_001407898.1:c.4844A>G
- NM_001407899.1:c.4844A>G
- NM_001407900.1:c.4844A>G
- NM_001407902.1:c.4844A>G
- NM_001407904.1:c.4844A>G
- NM_001407906.1:c.4844A>G
- NM_001407907.1:c.4844A>G
- NM_001407908.1:c.4844A>G
- NM_001407909.1:c.4844A>G
- NM_001407910.1:c.4844A>G
- NM_001407915.1:c.4841A>G
- NM_001407916.1:c.4841A>G
- NM_001407917.1:c.4841A>G
- NM_001407918.1:c.4841A>G
- NM_001407919.1:c.4934A>G
- NM_001407920.1:c.4793A>G
- NM_001407921.1:c.4793A>G
- NM_001407922.1:c.4793A>G
- NM_001407923.1:c.4793A>G
- NM_001407924.1:c.4793A>G
- NM_001407925.1:c.4793A>G
- NM_001407926.1:c.4793A>G
- NM_001407927.1:c.4790A>G
- NM_001407928.1:c.4790A>G
- NM_001407929.1:c.4790A>G
- NM_001407930.1:c.4790A>G
- NM_001407931.1:c.4790A>G
- NM_001407932.1:c.4790A>G
- NM_001407933.1:c.4790A>G
- NM_001407934.1:c.4787A>G
- NM_001407935.1:c.4787A>G
- NM_001407936.1:c.4787A>G
- NM_001407937.1:c.4934A>G
- NM_001407938.1:c.4934A>G
- NM_001407939.1:c.4931A>G
- NM_001407940.1:c.4931A>G
- NM_001407941.1:c.4928A>G
- NM_001407942.1:c.4916A>G
- NM_001407943.1:c.4913A>G
- NM_001407944.1:c.4913A>G
- NM_001407945.1:c.4913A>G
- NM_001407946.1:c.4724A>G
- NM_001407947.1:c.4724A>G
- NM_001407948.1:c.4724A>G
- NM_001407949.1:c.4724A>G
- NM_001407950.1:c.4721A>G
- NM_001407951.1:c.4721A>G
- NM_001407952.1:c.4721A>G
- NM_001407953.1:c.4721A>G
- NM_001407954.1:c.4721A>G
- NM_001407955.1:c.4721A>G
- NM_001407956.1:c.4718A>G
- NM_001407957.1:c.4718A>G
- NM_001407958.1:c.4718A>G
- NM_001407959.1:c.4676A>G
- NM_001407960.1:c.4673A>G
- NM_001407962.1:c.4673A>G
- NM_001407963.1:c.4670A>G
- NM_001407964.1:c.4595A>G
- NM_001407965.1:c.4550A>G
- NM_001407966.1:c.4169A>G
- NM_001407967.1:c.4166A>G
- NM_001407968.1:c.2453A>G
- NM_001407969.1:c.2450A>G
- NM_001407970.1:c.1814A>G
- NM_001407971.1:c.1814A>G
- NM_001407972.1:c.1811A>G
- NM_001407973.1:c.1748A>G
- NM_001407974.1:c.1748A>G
- NM_001407975.1:c.1748A>G
- NM_001407976.1:c.1748A>G
- NM_001407977.1:c.1748A>G
- NM_001407978.1:c.1748A>G
- NM_001407979.1:c.1745A>G
- NM_001407980.1:c.1745A>G
- NM_001407981.1:c.1745A>G
- NM_001407982.1:c.1745A>G
- NM_001407983.1:c.1745A>G
- NM_001407984.1:c.1745A>G
- NM_001407985.1:c.1745A>G
- NM_001407986.1:c.1745A>G
- NM_001407990.1:c.1745A>G
- NM_001407991.1:c.1745A>G
- NM_001407992.1:c.1745A>G
- NM_001407993.1:c.1745A>G
- NM_001408392.1:c.1742A>G
- NM_001408396.1:c.1742A>G
- NM_001408397.1:c.1742A>G
- NM_001408398.1:c.1742A>G
- NM_001408399.1:c.1742A>G
- NM_001408400.1:c.1742A>G
- NM_001408401.1:c.1742A>G
- NM_001408402.1:c.1742A>G
- NM_001408403.1:c.1742A>G
- NM_001408404.1:c.1742A>G
- NM_001408406.1:c.1739A>G
- NM_001408407.1:c.1739A>G
- NM_001408408.1:c.1739A>G
- NM_001408409.1:c.1736A>G
- NM_001408410.1:c.1673A>G
- NM_001408411.1:c.1670A>G
- NM_001408412.1:c.1667A>G
- NM_001408413.1:c.1667A>G
- NM_001408414.1:c.1667A>G
- NM_001408415.1:c.1667A>G
- NM_001408416.1:c.1667A>G
- NM_001408418.1:c.1631A>G
- NM_001408419.1:c.1631A>G
- NM_001408420.1:c.1631A>G
- NM_001408421.1:c.1628A>G
- NM_001408422.1:c.1628A>G
- NM_001408423.1:c.1628A>G
- NM_001408424.1:c.1628A>G
- NM_001408425.1:c.1625A>G
- NM_001408426.1:c.1625A>G
- NM_001408427.1:c.1625A>G
- NM_001408428.1:c.1625A>G
- NM_001408429.1:c.1625A>G
- NM_001408430.1:c.1625A>G
- NM_001408431.1:c.1625A>G
- NM_001408432.1:c.1622A>G
- NM_001408433.1:c.1622A>G
- NM_001408434.1:c.1622A>G
- NM_001408435.1:c.1622A>G
- NM_001408436.1:c.1622A>G
- NM_001408437.1:c.1622A>G
- NM_001408438.1:c.1622A>G
- NM_001408439.1:c.1622A>G
- NM_001408440.1:c.1622A>G
- NM_001408441.1:c.1622A>G
- NM_001408442.1:c.1622A>G
- NM_001408443.1:c.1622A>G
- NM_001408444.1:c.1622A>G
- NM_001408445.1:c.1619A>G
- NM_001408446.1:c.1619A>G
- NM_001408447.1:c.1619A>G
- NM_001408448.1:c.1619A>G
- NM_001408450.1:c.1619A>G
- NM_001408451.1:c.1613A>G
- NM_001408452.1:c.1607A>G
- NM_001408453.1:c.1607A>G
- NM_001408454.1:c.1607A>G
- NM_001408455.1:c.1607A>G
- NM_001408456.1:c.1607A>G
- NM_001408457.1:c.1607A>G
- NM_001408458.1:c.1604A>G
- NM_001408459.1:c.1604A>G
- NM_001408460.1:c.1604A>G
- NM_001408461.1:c.1604A>G
- NM_001408462.1:c.1604A>G
- NM_001408463.1:c.1604A>G
- NM_001408464.1:c.1604A>G
- NM_001408465.1:c.1604A>G
- NM_001408466.1:c.1604A>G
- NM_001408467.1:c.1604A>G
- NM_001408468.1:c.1601A>G
- NM_001408469.1:c.1601A>G
- NM_001408470.1:c.1601A>G
- NM_001408472.1:c.1745A>G
- NM_001408473.1:c.1742A>G
- NM_001408474.1:c.1547A>G
- NM_001408475.1:c.1544A>G
- NM_001408476.1:c.1544A>G
- NM_001408478.1:c.1538A>G
- NM_001408479.1:c.1538A>G
- NM_001408480.1:c.1538A>G
- NM_001408481.1:c.1535A>G
- NM_001408482.1:c.1535A>G
- NM_001408483.1:c.1535A>G
- NM_001408484.1:c.1535A>G
- NM_001408485.1:c.1535A>G
- NM_001408489.1:c.1535A>G
- NM_001408490.1:c.1535A>G
- NM_001408491.1:c.1535A>G
- NM_001408492.1:c.1532A>G
- NM_001408493.1:c.1532A>G
- NM_001408494.1:c.1508A>G
- NM_001408495.1:c.1502A>G
- NM_001408496.1:c.1484A>G
- NM_001408497.1:c.1484A>G
- NM_001408498.1:c.1484A>G
- NM_001408499.1:c.1484A>G
- NM_001408500.1:c.1484A>G
- NM_001408501.1:c.1484A>G
- NM_001408502.1:c.1481A>G
- NM_001408503.1:c.1481A>G
- NM_001408504.1:c.1481A>G
- NM_001408505.1:c.1478A>G
- NM_001408506.1:c.1421A>G
- NM_001408507.1:c.1418A>G
- NM_001408508.1:c.1409A>G
- NM_001408509.1:c.1406A>G
- NM_001408510.1:c.1367A>G
- NM_001408511.1:c.1364A>G
- NM_001408512.1:c.1244A>G
- NM_001408513.1:c.1217A>G
- NM_007294.4:c.5057A>GMANE SELECT
- NM_007297.4:c.4916A>G
- NM_007298.4:c.1745A>G
- NM_007299.4:c.1745A>G
- NM_007300.4:c.5120A>G
- NM_007304.2:c.1745A>G
- NP_001394500.1:p.His1615Arg
- NP_001394510.1:p.His1708Arg
- NP_001394511.1:p.His1708Arg
- NP_001394512.1:p.His1707Arg
- NP_001394514.1:p.His1707Arg
- NP_001394516.1:p.His1707Arg
- NP_001394519.1:p.His1706Arg
- NP_001394520.1:p.His1706Arg
- NP_001394522.1:p.His1686Arg
- NP_001394523.1:p.His1686Arg
- NP_001394525.1:p.His1686Arg
- NP_001394526.1:p.His1686Arg
- NP_001394527.1:p.His1686Arg
- NP_001394531.1:p.His1686Arg
- NP_001394532.1:p.His1686Arg
- NP_001394534.1:p.His1686Arg
- NP_001394539.1:p.His1685Arg
- NP_001394540.1:p.His1685Arg
- NP_001394541.1:p.His1685Arg
- NP_001394542.1:p.His1685Arg
- NP_001394543.1:p.His1685Arg
- NP_001394544.1:p.His1685Arg
- NP_001394545.1:p.His1685Arg
- NP_001394546.1:p.His1685Arg
- NP_001394547.1:p.His1685Arg
- NP_001394548.1:p.His1685Arg
- NP_001394549.1:p.His1685Arg
- NP_001394550.1:p.His1685Arg
- NP_001394551.1:p.His1685Arg
- NP_001394552.1:p.His1685Arg
- NP_001394553.1:p.His1685Arg
- NP_001394554.1:p.His1685Arg
- NP_001394555.1:p.His1685Arg
- NP_001394556.1:p.His1684Arg
- NP_001394557.1:p.His1684Arg
- NP_001394558.1:p.His1684Arg
- NP_001394559.1:p.His1684Arg
- NP_001394560.1:p.His1684Arg
- NP_001394561.1:p.His1684Arg
- NP_001394562.1:p.His1684Arg
- NP_001394563.1:p.His1684Arg
- NP_001394564.1:p.His1684Arg
- NP_001394565.1:p.His1684Arg
- NP_001394566.1:p.His1684Arg
- NP_001394567.1:p.His1684Arg
- NP_001394568.1:p.His1684Arg
- NP_001394569.1:p.His1684Arg
- NP_001394570.1:p.His1684Arg
- NP_001394571.1:p.His1684Arg
- NP_001394573.1:p.His1683Arg
- NP_001394574.1:p.His1683Arg
- NP_001394575.1:p.His1682Arg
- NP_001394576.1:p.His1681Arg
- NP_001394577.1:p.His1667Arg
- NP_001394578.1:p.His1666Arg
- NP_001394581.1:p.His1686Arg
- NP_001394582.1:p.His1660Arg
- NP_001394583.1:p.His1660Arg
- NP_001394584.1:p.His1660Arg
- NP_001394585.1:p.His1659Arg
- NP_001394586.1:p.His1659Arg
- NP_001394587.1:p.His1659Arg
- NP_001394588.1:p.His1658Arg
- NP_001394589.1:p.His1658Arg
- NP_001394590.1:p.His1658Arg
- NP_001394591.1:p.His1658Arg
- NP_001394592.1:p.His1658Arg
- NP_001394593.1:p.His1645Arg
- NP_001394594.1:p.His1645Arg
- NP_001394595.1:p.His1645Arg
- NP_001394596.1:p.His1645Arg
- NP_001394597.1:p.His1645Arg
- NP_001394598.1:p.His1645Arg
- NP_001394599.1:p.His1644Arg
- NP_001394600.1:p.His1644Arg
- NP_001394601.1:p.His1644Arg
- NP_001394602.1:p.His1644Arg
- NP_001394603.1:p.His1644Arg
- NP_001394604.1:p.His1644Arg
- NP_001394605.1:p.His1644Arg
- NP_001394606.1:p.His1644Arg
- NP_001394607.1:p.His1644Arg
- NP_001394608.1:p.His1644Arg
- NP_001394609.1:p.His1644Arg
- NP_001394610.1:p.His1643Arg
- NP_001394611.1:p.His1643Arg
- NP_001394612.1:p.His1643Arg
- NP_001394613.1:p.His1686Arg
- NP_001394614.1:p.His1643Arg
- NP_001394615.1:p.His1643Arg
- NP_001394616.1:p.His1643Arg
- NP_001394617.1:p.His1643Arg
- NP_001394618.1:p.His1643Arg
- NP_001394619.1:p.His1642Arg
- NP_001394620.1:p.His1642Arg
- NP_001394621.1:p.His1639Arg
- NP_001394623.1:p.His1639Arg
- NP_001394624.1:p.His1639Arg
- NP_001394625.1:p.His1639Arg
- NP_001394626.1:p.His1639Arg
- NP_001394627.1:p.His1639Arg
- NP_001394653.1:p.His1639Arg
- NP_001394654.1:p.His1639Arg
- NP_001394655.1:p.His1639Arg
- NP_001394656.1:p.His1639Arg
- NP_001394657.1:p.His1639Arg
- NP_001394658.1:p.His1639Arg
- NP_001394659.1:p.His1639Arg
- NP_001394660.1:p.His1639Arg
- NP_001394661.1:p.His1638Arg
- NP_001394662.1:p.His1638Arg
- NP_001394663.1:p.His1638Arg
- NP_001394664.1:p.His1638Arg
- NP_001394665.1:p.His1638Arg
- NP_001394666.1:p.His1638Arg
- NP_001394667.1:p.His1638Arg
- NP_001394668.1:p.His1638Arg
- NP_001394669.1:p.His1638Arg
- NP_001394670.1:p.His1638Arg
- NP_001394671.1:p.His1638Arg
- NP_001394672.1:p.His1638Arg
- NP_001394673.1:p.His1638Arg
- NP_001394674.1:p.His1638Arg
- NP_001394675.1:p.His1638Arg
- NP_001394676.1:p.His1638Arg
- NP_001394677.1:p.His1638Arg
- NP_001394678.1:p.His1638Arg
- NP_001394679.1:p.His1638Arg
- NP_001394680.1:p.His1638Arg
- NP_001394681.1:p.His1638Arg
- NP_001394767.1:p.His1637Arg
- NP_001394768.1:p.His1637Arg
- NP_001394770.1:p.His1637Arg
- NP_001394771.1:p.His1637Arg
- NP_001394772.1:p.His1637Arg
- NP_001394773.1:p.His1637Arg
- NP_001394774.1:p.His1637Arg
- NP_001394775.1:p.His1637Arg
- NP_001394776.1:p.His1637Arg
- NP_001394777.1:p.His1637Arg
- NP_001394778.1:p.His1637Arg
- NP_001394779.1:p.His1637Arg
- NP_001394780.1:p.His1637Arg
- NP_001394781.1:p.His1637Arg
- NP_001394782.1:p.His1637Arg
- NP_001394783.1:p.His1686Arg
- NP_001394787.1:p.His1685Arg
- NP_001394788.1:p.His1685Arg
- NP_001394789.1:p.His1685Arg
- NP_001394790.1:p.His1684Arg
- NP_001394791.1:p.His1619Arg
- NP_001394792.1:p.His1644Arg
- NP_001394803.1:p.His1617Arg
- NP_001394804.1:p.His1617Arg
- NP_001394808.1:p.His1616Arg
- NP_001394810.1:p.His1616Arg
- NP_001394811.1:p.His1616Arg
- NP_001394813.1:p.His1616Arg
- NP_001394814.1:p.His1616Arg
- NP_001394815.1:p.His1616Arg
- NP_001394816.1:p.His1616Arg
- NP_001394818.1:p.His1616Arg
- NP_001394823.1:p.His1615Arg
- NP_001394824.1:p.His1615Arg
- NP_001394825.1:p.His1615Arg
- NP_001394826.1:p.His1615Arg
- NP_001394827.1:p.His1615Arg
- NP_001394828.1:p.His1615Arg
- NP_001394829.1:p.His1615Arg
- NP_001394831.1:p.His1615Arg
- NP_001394833.1:p.His1615Arg
- NP_001394835.1:p.His1615Arg
- NP_001394836.1:p.His1615Arg
- NP_001394837.1:p.His1615Arg
- NP_001394838.1:p.His1615Arg
- NP_001394839.1:p.His1615Arg
- NP_001394844.1:p.His1614Arg
- NP_001394845.1:p.His1614Arg
- NP_001394846.1:p.His1614Arg
- NP_001394847.1:p.His1614Arg
- NP_001394848.1:p.His1645Arg
- NP_001394849.1:p.His1598Arg
- NP_001394850.1:p.His1598Arg
- NP_001394851.1:p.His1598Arg
- NP_001394852.1:p.His1598Arg
- NP_001394853.1:p.His1598Arg
- NP_001394854.1:p.His1598Arg
- NP_001394855.1:p.His1598Arg
- NP_001394856.1:p.His1597Arg
- NP_001394857.1:p.His1597Arg
- NP_001394858.1:p.His1597Arg
- NP_001394859.1:p.His1597Arg
- NP_001394860.1:p.His1597Arg
- NP_001394861.1:p.His1597Arg
- NP_001394862.1:p.His1597Arg
- NP_001394863.1:p.His1596Arg
- NP_001394864.1:p.His1596Arg
- NP_001394865.1:p.His1596Arg
- NP_001394866.1:p.His1645Arg
- NP_001394867.1:p.His1645Arg
- NP_001394868.1:p.His1644Arg
- NP_001394869.1:p.His1644Arg
- NP_001394870.1:p.His1643Arg
- NP_001394871.1:p.His1639Arg
- NP_001394872.1:p.His1638Arg
- NP_001394873.1:p.His1638Arg
- NP_001394874.1:p.His1638Arg
- NP_001394875.1:p.His1575Arg
- NP_001394876.1:p.His1575Arg
- NP_001394877.1:p.His1575Arg
- NP_001394878.1:p.His1575Arg
- NP_001394879.1:p.His1574Arg
- NP_001394880.1:p.His1574Arg
- NP_001394881.1:p.His1574Arg
- NP_001394882.1:p.His1574Arg
- NP_001394883.1:p.His1574Arg
- NP_001394884.1:p.His1574Arg
- NP_001394885.1:p.His1573Arg
- NP_001394886.1:p.His1573Arg
- NP_001394887.1:p.His1573Arg
- NP_001394888.1:p.His1559Arg
- NP_001394889.1:p.His1558Arg
- NP_001394891.1:p.His1558Arg
- NP_001394892.1:p.His1557Arg
- NP_001394893.1:p.His1532Arg
- NP_001394894.1:p.His1517Arg
- NP_001394895.1:p.His1390Arg
- NP_001394896.1:p.His1389Arg
- NP_001394897.1:p.His818Arg
- NP_001394898.1:p.His817Arg
- NP_001394899.1:p.His605Arg
- NP_001394900.1:p.His605Arg
- NP_001394901.1:p.His604Arg
- NP_001394902.1:p.His583Arg
- NP_001394903.1:p.His583Arg
- NP_001394904.1:p.His583Arg
- NP_001394905.1:p.His583Arg
- NP_001394906.1:p.His583Arg
- NP_001394907.1:p.His583Arg
- NP_001394908.1:p.His582Arg
- NP_001394909.1:p.His582Arg
- NP_001394910.1:p.His582Arg
- NP_001394911.1:p.His582Arg
- NP_001394912.1:p.His582Arg
- NP_001394913.1:p.His582Arg
- NP_001394914.1:p.His582Arg
- NP_001394915.1:p.His582Arg
- NP_001394919.1:p.His582Arg
- NP_001394920.1:p.His582Arg
- NP_001394921.1:p.His582Arg
- NP_001394922.1:p.His582Arg
- NP_001395321.1:p.His581Arg
- NP_001395325.1:p.His581Arg
- NP_001395326.1:p.His581Arg
- NP_001395327.1:p.His581Arg
- NP_001395328.1:p.His581Arg
- NP_001395329.1:p.His581Arg
- NP_001395330.1:p.His581Arg
- NP_001395331.1:p.His581Arg
- NP_001395332.1:p.His581Arg
- NP_001395333.1:p.His581Arg
- NP_001395335.1:p.His580Arg
- NP_001395336.1:p.His580Arg
- NP_001395337.1:p.His580Arg
- NP_001395338.1:p.His579Arg
- NP_001395339.1:p.His558Arg
- NP_001395340.1:p.His557Arg
- NP_001395341.1:p.His556Arg
- NP_001395342.1:p.His556Arg
- NP_001395343.1:p.His556Arg
- NP_001395344.1:p.His556Arg
- NP_001395345.1:p.His556Arg
- NP_001395347.1:p.His544Arg
- NP_001395348.1:p.His544Arg
- NP_001395349.1:p.His544Arg
- NP_001395350.1:p.His543Arg
- NP_001395351.1:p.His543Arg
- NP_001395352.1:p.His543Arg
- NP_001395353.1:p.His543Arg
- NP_001395354.1:p.His542Arg
- NP_001395355.1:p.His542Arg
- NP_001395356.1:p.His542Arg
- NP_001395357.1:p.His542Arg
- NP_001395358.1:p.His542Arg
- NP_001395359.1:p.His542Arg
- NP_001395360.1:p.His542Arg
- NP_001395361.1:p.His541Arg
- NP_001395362.1:p.His541Arg
- NP_001395363.1:p.His541Arg
- NP_001395364.1:p.His541Arg
- NP_001395365.1:p.His541Arg
- NP_001395366.1:p.His541Arg
- NP_001395367.1:p.His541Arg
- NP_001395368.1:p.His541Arg
- NP_001395369.1:p.His541Arg
- NP_001395370.1:p.His541Arg
- NP_001395371.1:p.His541Arg
- NP_001395372.1:p.His541Arg
- NP_001395373.1:p.His541Arg
- NP_001395374.1:p.His540Arg
- NP_001395375.1:p.His540Arg
- NP_001395376.1:p.His540Arg
- NP_001395377.1:p.His540Arg
- NP_001395379.1:p.His540Arg
- NP_001395380.1:p.His538Arg
- NP_001395381.1:p.His536Arg
- NP_001395382.1:p.His536Arg
- NP_001395383.1:p.His536Arg
- NP_001395384.1:p.His536Arg
- NP_001395385.1:p.His536Arg
- NP_001395386.1:p.His536Arg
- NP_001395387.1:p.His535Arg
- NP_001395388.1:p.His535Arg
- NP_001395389.1:p.His535Arg
- NP_001395390.1:p.His535Arg
- NP_001395391.1:p.His535Arg
- NP_001395392.1:p.His535Arg
- NP_001395393.1:p.His535Arg
- NP_001395394.1:p.His535Arg
- NP_001395395.1:p.His535Arg
- NP_001395396.1:p.His535Arg
- NP_001395397.1:p.His534Arg
- NP_001395398.1:p.His534Arg
- NP_001395399.1:p.His534Arg
- NP_001395401.1:p.His582Arg
- NP_001395402.1:p.His581Arg
- NP_001395403.1:p.His516Arg
- NP_001395404.1:p.His515Arg
- NP_001395405.1:p.His515Arg
- NP_001395407.1:p.His513Arg
- NP_001395408.1:p.His513Arg
- NP_001395409.1:p.His513Arg
- NP_001395410.1:p.His512Arg
- NP_001395411.1:p.His512Arg
- NP_001395412.1:p.His512Arg
- NP_001395413.1:p.His512Arg
- NP_001395414.1:p.His512Arg
- NP_001395418.1:p.His512Arg
- NP_001395419.1:p.His512Arg
- NP_001395420.1:p.His512Arg
- NP_001395421.1:p.His511Arg
- NP_001395422.1:p.His511Arg
- NP_001395423.1:p.His503Arg
- NP_001395424.1:p.His501Arg
- NP_001395425.1:p.His495Arg
- NP_001395426.1:p.His495Arg
- NP_001395427.1:p.His495Arg
- NP_001395428.1:p.His495Arg
- NP_001395429.1:p.His495Arg
- NP_001395430.1:p.His495Arg
- NP_001395431.1:p.His494Arg
- NP_001395432.1:p.His494Arg
- NP_001395433.1:p.His494Arg
- NP_001395434.1:p.His493Arg
- NP_001395435.1:p.His474Arg
- NP_001395436.1:p.His473Arg
- NP_001395437.1:p.His470Arg
- NP_001395438.1:p.His469Arg
- NP_001395439.1:p.His456Arg
- NP_001395440.1:p.His455Arg
- NP_001395441.1:p.His415Arg
- NP_001395442.1:p.His406Arg
- NP_009225.1:p.His1686Arg
- NP_009225.1:p.His1686Arg
- NP_009228.2:p.His1639Arg
- NP_009229.2:p.His582Arg
- NP_009229.2:p.His582Arg
- NP_009230.2:p.His582Arg
- NP_009231.2:p.His1707Arg
- NP_009235.2:p.His582Arg
- LRG_292t1:c.5057A>G
- LRG_292:g.150359A>G
- LRG_292p1:p.His1686Arg
- NC_000017.10:g.41219642T>C
- NM_007294.3:c.5057A>G
- NM_007298.3:c.1745A>G
- NR_027676.2:n.5234A>G
- P38398:p.His1686Arg
This HGVS expression did not pass validation- Protein change:
- H1389R
- Links:
- UniProtKB: P38398#VAR_070498; dbSNP: rs730882166
- NCBI 1000 Genomes Browser:
- rs730882166
- Molecular consequence:
- NM_001407571.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.5123A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.5123A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.5120A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.5120A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.5120A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.5117A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.5117A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.5048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.5048A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.5045A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.5042A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.5000A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.4997A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.4979A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.4979A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.4979A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.4976A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.4976A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.4976A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.4973A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.4973A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.4973A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.4973A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.4973A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.4925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.4925A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.4856A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.4841A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.4841A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.4841A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.4841A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.4790A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.4790A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.4790A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.4790A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.4790A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.4790A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.4790A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.4787A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.4787A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.4787A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.4718A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.4718A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.4718A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.4676A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.4673A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.4673A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.4670A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.4595A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.4550A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.4169A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.4166A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.2453A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.2450A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.1814A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.1814A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.1811A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.1748A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.1748A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.1748A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.1748A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.1748A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.1748A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.1739A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.1739A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.1739A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.1736A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.1673A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.1670A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.1667A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.1667A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.1667A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.1667A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.1667A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.1631A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.1631A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.1631A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.1628A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.1628A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.1628A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.1628A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.1619A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.1619A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.1619A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.1619A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.1619A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408451.1:c.1613A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.1601A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.1601A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.1601A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.1547A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408478.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408479.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408480.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408481.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408482.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408483.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408484.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408485.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408489.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408490.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408491.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408492.1:c.1532A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408493.1:c.1532A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.1508A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.1502A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408502.1:c.1481A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.1481A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.1481A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.1478A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408506.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408507.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408508.1:c.1409A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408509.1:c.1406A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408510.1:c.1367A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408511.1:c.1364A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408512.1:c.1244A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408513.1:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.5120A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.5234A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- Functional consequence:
- functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5057A>G, a MISSENSE variant, produced a function score of -1.34, corresponding to a functional classification of LOSS_OF_FUNCTION. 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)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV000568402 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification Process June 2021) | Likely pathogenic (Nov 6, 2020) | germline | clinical testing | |
| SCV001715194 | Mayo Clinic Laboratories, Mayo Clinic | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Nov 14, 2019) | germline | clinical testing | |
| SCV004219435 | Quest Diagnostics Nichols Institute San Juan Capistrano | criteria provided, single submitter (Quest Diagnostics criteria) | Likely pathogenic (Sep 21, 2023) | unknown | clinical testing | |
| SCV005199706 | Clinical Genetics Laboratory, Skane University Hospital Lund | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely pathogenic (May 27, 2022) | germline | clinical testing |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
| not provided | germline | unknown | 1 | not provided | not provided | not provided | not provided | clinical testing |
| not provided | unknown | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
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.
PubMed [citation]
- PMID:
- 30209399
- PMCID:
- PMC6181777
Wen WX, Allen J, Lai KN, Mariapun S, Hasan SN, Ng PS, Lee DS, Lee SY, Yoon SY, Lim J, Lau SY, Decker B, Pooley K, Dorling L, Luccarini C, Baynes C, Conroy DM, Harrington P, Simard J, Yip CH, Mohd Taib NA, Ho WK, et al.
J Med Genet. 2018 Feb;55(2):97-103. doi: 10.1136/jmedgenet-2017-104947. Epub 2017 Oct 9.
PubMed [citation]
- PMID:
- 28993434
- PMCID:
- PMC5800345
Details of each submission
From GeneDx, SCV000568402.6
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
Published functional studies demonstrate a damaging effect: impaired homologous recombination, embryonic growth complementation, cisplatin sensitivity, and was classified as non-functional based on a saturation genome editing assay measuring cell survival (Bouwman 2013, Findlay 2018, Bouwman 2020); Observed in individuals with breast cancer (Wen 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (Lek 2016); Also known as c.5176A>G; This variant is associated with the following publications: (PMID: 17305420, 23867111, 28993434, 30209399, 32546644, 33087888)
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From Mayo Clinic Laboratories, Mayo Clinic, SCV001715194.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (4) |
Description
PS3, PM1, PM2, PM5
| # | 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 | 1 | not provided | not provided | not provided | |
From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004219435.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (8) |
Description
The BRCA1 c.5057A>G (p.His1686Arg) variant has been reported in the published literature in individuals with breast and/or ovarian cancer (PMIDs: 28993434 (2018), 25452441 (2015), 18757339 (2008)). Assessment of experimental evidence indicates this variant has deleterious effects on protein function (PMIDs: 30209399 (2018), 23867111 (2013)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as likely pathogenic.
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | unknown | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From Clinical Genetics Laboratory, Skane University Hospital Lund, SCV005199706.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
Last Updated: Oct 8, 2024