ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5057A>T (p.His1686Leu)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.5057A>T (p.His1686Leu)
Variation ID: 867584 Accession: VCV000867584.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43067625 (GRCh38) [ NCBI UCSC ] 17: 41219642 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 18, 2020 Apr 18, 2020 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5057A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.His1686Leu missense NM_001407571.1:c.4844A>T NP_001394500.1:p.His1615Leu missense NM_001407581.1:c.5123A>T NP_001394510.1:p.His1708Leu missense NM_001407582.1:c.5123A>T NP_001394511.1:p.His1708Leu missense NM_001407583.1:c.5120A>T NP_001394512.1:p.His1707Leu missense NM_001407585.1:c.5120A>T NP_001394514.1:p.His1707Leu missense NM_001407587.1:c.5120A>T NP_001394516.1:p.His1707Leu missense NM_001407590.1:c.5117A>T NP_001394519.1:p.His1706Leu missense NM_001407591.1:c.5117A>T NP_001394520.1:p.His1706Leu missense NM_001407593.1:c.5057A>T NP_001394522.1:p.His1686Leu missense NM_001407594.1:c.5057A>T NP_001394523.1:p.His1686Leu missense NM_001407596.1:c.5057A>T NP_001394525.1:p.His1686Leu missense NM_001407597.1:c.5057A>T NP_001394526.1:p.His1686Leu missense NM_001407598.1:c.5057A>T NP_001394527.1:p.His1686Leu missense NM_001407602.1:c.5057A>T NP_001394531.1:p.His1686Leu missense NM_001407603.1:c.5057A>T NP_001394532.1:p.His1686Leu missense NM_001407605.1:c.5057A>T NP_001394534.1:p.His1686Leu missense NM_001407610.1:c.5054A>T NP_001394539.1:p.His1685Leu missense NM_001407611.1:c.5054A>T NP_001394540.1:p.His1685Leu missense NM_001407612.1:c.5054A>T NP_001394541.1:p.His1685Leu missense NM_001407613.1:c.5054A>T NP_001394542.1:p.His1685Leu missense NM_001407614.1:c.5054A>T NP_001394543.1:p.His1685Leu missense NM_001407615.1:c.5054A>T NP_001394544.1:p.His1685Leu missense NM_001407616.1:c.5054A>T NP_001394545.1:p.His1685Leu missense NM_001407617.1:c.5054A>T NP_001394546.1:p.His1685Leu missense NM_001407618.1:c.5054A>T NP_001394547.1:p.His1685Leu missense NM_001407619.1:c.5054A>T NP_001394548.1:p.His1685Leu missense NM_001407620.1:c.5054A>T NP_001394549.1:p.His1685Leu missense NM_001407621.1:c.5054A>T NP_001394550.1:p.His1685Leu missense NM_001407622.1:c.5054A>T NP_001394551.1:p.His1685Leu missense NM_001407623.1:c.5054A>T NP_001394552.1:p.His1685Leu missense NM_001407624.1:c.5054A>T NP_001394553.1:p.His1685Leu missense NM_001407625.1:c.5054A>T NP_001394554.1:p.His1685Leu missense NM_001407626.1:c.5054A>T NP_001394555.1:p.His1685Leu missense NM_001407627.1:c.5051A>T NP_001394556.1:p.His1684Leu missense NM_001407628.1:c.5051A>T NP_001394557.1:p.His1684Leu missense NM_001407629.1:c.5051A>T NP_001394558.1:p.His1684Leu missense NM_001407630.1:c.5051A>T NP_001394559.1:p.His1684Leu missense NM_001407631.1:c.5051A>T NP_001394560.1:p.His1684Leu missense NM_001407632.1:c.5051A>T NP_001394561.1:p.His1684Leu missense NM_001407633.1:c.5051A>T NP_001394562.1:p.His1684Leu missense NM_001407634.1:c.5051A>T NP_001394563.1:p.His1684Leu missense NM_001407635.1:c.5051A>T NP_001394564.1:p.His1684Leu missense NM_001407636.1:c.5051A>T NP_001394565.1:p.His1684Leu missense NM_001407637.1:c.5051A>T NP_001394566.1:p.His1684Leu missense NM_001407638.1:c.5051A>T NP_001394567.1:p.His1684Leu missense NM_001407639.1:c.5051A>T NP_001394568.1:p.His1684Leu missense NM_001407640.1:c.5051A>T NP_001394569.1:p.His1684Leu missense NM_001407641.1:c.5051A>T NP_001394570.1:p.His1684Leu missense NM_001407642.1:c.5051A>T NP_001394571.1:p.His1684Leu missense NM_001407644.1:c.5048A>T NP_001394573.1:p.His1683Leu missense NM_001407645.1:c.5048A>T NP_001394574.1:p.His1683Leu missense NM_001407646.1:c.5045A>T NP_001394575.1:p.His1682Leu missense NM_001407647.1:c.5042A>T NP_001394576.1:p.His1681Leu missense NM_001407648.1:c.5000A>T NP_001394577.1:p.His1667Leu missense NM_001407649.1:c.4997A>T NP_001394578.1:p.His1666Leu missense NM_001407652.1:c.5057A>T NP_001394581.1:p.His1686Leu missense NM_001407653.1:c.4979A>T NP_001394582.1:p.His1660Leu missense NM_001407654.1:c.4979A>T NP_001394583.1:p.His1660Leu missense NM_001407655.1:c.4979A>T NP_001394584.1:p.His1660Leu missense NM_001407656.1:c.4976A>T NP_001394585.1:p.His1659Leu missense NM_001407657.1:c.4976A>T NP_001394586.1:p.His1659Leu missense NM_001407658.1:c.4976A>T NP_001394587.1:p.His1659Leu missense NM_001407659.1:c.4973A>T NP_001394588.1:p.His1658Leu missense NM_001407660.1:c.4973A>T NP_001394589.1:p.His1658Leu missense NM_001407661.1:c.4973A>T NP_001394590.1:p.His1658Leu missense NM_001407662.1:c.4973A>T NP_001394591.1:p.His1658Leu missense NM_001407663.1:c.4973A>T NP_001394592.1:p.His1658Leu missense NM_001407664.1:c.4934A>T NP_001394593.1:p.His1645Leu missense NM_001407665.1:c.4934A>T NP_001394594.1:p.His1645Leu missense NM_001407666.1:c.4934A>T NP_001394595.1:p.His1645Leu missense NM_001407667.1:c.4934A>T NP_001394596.1:p.His1645Leu missense NM_001407668.1:c.4934A>T NP_001394597.1:p.His1645Leu missense NM_001407669.1:c.4934A>T NP_001394598.1:p.His1645Leu missense NM_001407670.1:c.4931A>T NP_001394599.1:p.His1644Leu missense NM_001407671.1:c.4931A>T NP_001394600.1:p.His1644Leu missense NM_001407672.1:c.4931A>T NP_001394601.1:p.His1644Leu missense NM_001407673.1:c.4931A>T NP_001394602.1:p.His1644Leu missense NM_001407674.1:c.4931A>T NP_001394603.1:p.His1644Leu missense NM_001407675.1:c.4931A>T NP_001394604.1:p.His1644Leu missense NM_001407676.1:c.4931A>T NP_001394605.1:p.His1644Leu missense NM_001407677.1:c.4931A>T NP_001394606.1:p.His1644Leu missense NM_001407678.1:c.4931A>T NP_001394607.1:p.His1644Leu missense NM_001407679.1:c.4931A>T NP_001394608.1:p.His1644Leu missense NM_001407680.1:c.4931A>T NP_001394609.1:p.His1644Leu missense NM_001407681.1:c.4928A>T NP_001394610.1:p.His1643Leu missense NM_001407682.1:c.4928A>T NP_001394611.1:p.His1643Leu missense NM_001407683.1:c.4928A>T NP_001394612.1:p.His1643Leu missense NM_001407684.1:c.5057A>T NP_001394613.1:p.His1686Leu missense NM_001407685.1:c.4928A>T NP_001394614.1:p.His1643Leu missense NM_001407686.1:c.4928A>T NP_001394615.1:p.His1643Leu missense NM_001407687.1:c.4928A>T NP_001394616.1:p.His1643Leu missense NM_001407688.1:c.4928A>T NP_001394617.1:p.His1643Leu missense NM_001407689.1:c.4928A>T NP_001394618.1:p.His1643Leu missense NM_001407690.1:c.4925A>T NP_001394619.1:p.His1642Leu missense NM_001407691.1:c.4925A>T NP_001394620.1:p.His1642Leu missense NM_001407692.1:c.4916A>T NP_001394621.1:p.His1639Leu missense NM_001407694.1:c.4916A>T NP_001394623.1:p.His1639Leu missense NM_001407695.1:c.4916A>T NP_001394624.1:p.His1639Leu missense NM_001407696.1:c.4916A>T NP_001394625.1:p.His1639Leu missense NM_001407697.1:c.4916A>T NP_001394626.1:p.His1639Leu missense NM_001407698.1:c.4916A>T NP_001394627.1:p.His1639Leu missense NM_001407724.1:c.4916A>T NP_001394653.1:p.His1639Leu missense NM_001407725.1:c.4916A>T NP_001394654.1:p.His1639Leu missense NM_001407726.1:c.4916A>T NP_001394655.1:p.His1639Leu missense NM_001407727.1:c.4916A>T NP_001394656.1:p.His1639Leu missense NM_001407728.1:c.4916A>T NP_001394657.1:p.His1639Leu missense NM_001407729.1:c.4916A>T NP_001394658.1:p.His1639Leu missense NM_001407730.1:c.4916A>T NP_001394659.1:p.His1639Leu missense NM_001407731.1:c.4916A>T NP_001394660.1:p.His1639Leu missense NM_001407732.1:c.4913A>T NP_001394661.1:p.His1638Leu missense NM_001407733.1:c.4913A>T NP_001394662.1:p.His1638Leu missense NM_001407734.1:c.4913A>T NP_001394663.1:p.His1638Leu missense NM_001407735.1:c.4913A>T NP_001394664.1:p.His1638Leu missense NM_001407736.1:c.4913A>T NP_001394665.1:p.His1638Leu missense NM_001407737.1:c.4913A>T NP_001394666.1:p.His1638Leu missense NM_001407738.1:c.4913A>T NP_001394667.1:p.His1638Leu missense NM_001407739.1:c.4913A>T NP_001394668.1:p.His1638Leu missense NM_001407740.1:c.4913A>T NP_001394669.1:p.His1638Leu missense NM_001407741.1:c.4913A>T NP_001394670.1:p.His1638Leu missense NM_001407742.1:c.4913A>T NP_001394671.1:p.His1638Leu missense NM_001407743.1:c.4913A>T NP_001394672.1:p.His1638Leu missense NM_001407744.1:c.4913A>T NP_001394673.1:p.His1638Leu missense NM_001407745.1:c.4913A>T NP_001394674.1:p.His1638Leu missense NM_001407746.1:c.4913A>T NP_001394675.1:p.His1638Leu missense NM_001407747.1:c.4913A>T NP_001394676.1:p.His1638Leu missense NM_001407748.1:c.4913A>T NP_001394677.1:p.His1638Leu missense NM_001407749.1:c.4913A>T NP_001394678.1:p.His1638Leu missense NM_001407750.1:c.4913A>T NP_001394679.1:p.His1638Leu missense NM_001407751.1:c.4913A>T NP_001394680.1:p.His1638Leu missense NM_001407752.1:c.4913A>T NP_001394681.1:p.His1638Leu missense NM_001407838.1:c.4910A>T NP_001394767.1:p.His1637Leu missense NM_001407839.1:c.4910A>T NP_001394768.1:p.His1637Leu missense NM_001407841.1:c.4910A>T NP_001394770.1:p.His1637Leu missense NM_001407842.1:c.4910A>T NP_001394771.1:p.His1637Leu missense NM_001407843.1:c.4910A>T NP_001394772.1:p.His1637Leu missense NM_001407844.1:c.4910A>T NP_001394773.1:p.His1637Leu missense NM_001407845.1:c.4910A>T NP_001394774.1:p.His1637Leu missense NM_001407846.1:c.4910A>T NP_001394775.1:p.His1637Leu missense NM_001407847.1:c.4910A>T NP_001394776.1:p.His1637Leu missense NM_001407848.1:c.4910A>T NP_001394777.1:p.His1637Leu missense NM_001407849.1:c.4910A>T NP_001394778.1:p.His1637Leu missense NM_001407850.1:c.4910A>T NP_001394779.1:p.His1637Leu missense NM_001407851.1:c.4910A>T NP_001394780.1:p.His1637Leu missense NM_001407852.1:c.4910A>T NP_001394781.1:p.His1637Leu missense NM_001407853.1:c.4910A>T NP_001394782.1:p.His1637Leu missense NM_001407854.1:c.5057A>T NP_001394783.1:p.His1686Leu missense NM_001407858.1:c.5054A>T NP_001394787.1:p.His1685Leu missense NM_001407859.1:c.5054A>T NP_001394788.1:p.His1685Leu missense NM_001407860.1:c.5054A>T NP_001394789.1:p.His1685Leu missense NM_001407861.1:c.5051A>T NP_001394790.1:p.His1684Leu missense NM_001407862.1:c.4856A>T NP_001394791.1:p.His1619Leu missense NM_001407863.1:c.4931A>T NP_001394792.1:p.His1644Leu missense NM_001407874.1:c.4850A>T NP_001394803.1:p.His1617Leu missense NM_001407875.1:c.4850A>T NP_001394804.1:p.His1617Leu missense NM_001407879.1:c.4847A>T NP_001394808.1:p.His1616Leu missense NM_001407881.1:c.4847A>T NP_001394810.1:p.His1616Leu missense NM_001407882.1:c.4847A>T NP_001394811.1:p.His1616Leu missense NM_001407884.1:c.4847A>T NP_001394813.1:p.His1616Leu missense NM_001407885.1:c.4847A>T NP_001394814.1:p.His1616Leu missense NM_001407886.1:c.4847A>T NP_001394815.1:p.His1616Leu missense NM_001407887.1:c.4847A>T NP_001394816.1:p.His1616Leu missense NM_001407889.1:c.4847A>T NP_001394818.1:p.His1616Leu missense NM_001407894.1:c.4844A>T NP_001394823.1:p.His1615Leu missense NM_001407895.1:c.4844A>T NP_001394824.1:p.His1615Leu missense NM_001407896.1:c.4844A>T NP_001394825.1:p.His1615Leu missense NM_001407897.1:c.4844A>T NP_001394826.1:p.His1615Leu missense NM_001407898.1:c.4844A>T NP_001394827.1:p.His1615Leu missense NM_001407899.1:c.4844A>T NP_001394828.1:p.His1615Leu missense NM_001407900.1:c.4844A>T NP_001394829.1:p.His1615Leu missense NM_001407902.1:c.4844A>T NP_001394831.1:p.His1615Leu missense NM_001407904.1:c.4844A>T NP_001394833.1:p.His1615Leu missense NM_001407906.1:c.4844A>T NP_001394835.1:p.His1615Leu missense NM_001407907.1:c.4844A>T NP_001394836.1:p.His1615Leu missense NM_001407908.1:c.4844A>T NP_001394837.1:p.His1615Leu missense NM_001407909.1:c.4844A>T NP_001394838.1:p.His1615Leu missense NM_001407910.1:c.4844A>T NP_001394839.1:p.His1615Leu missense NM_001407915.1:c.4841A>T NP_001394844.1:p.His1614Leu missense NM_001407916.1:c.4841A>T NP_001394845.1:p.His1614Leu missense NM_001407917.1:c.4841A>T NP_001394846.1:p.His1614Leu missense NM_001407918.1:c.4841A>T NP_001394847.1:p.His1614Leu missense NM_001407919.1:c.4934A>T NP_001394848.1:p.His1645Leu missense NM_001407920.1:c.4793A>T NP_001394849.1:p.His1598Leu missense NM_001407921.1:c.4793A>T NP_001394850.1:p.His1598Leu missense NM_001407922.1:c.4793A>T NP_001394851.1:p.His1598Leu missense NM_001407923.1:c.4793A>T NP_001394852.1:p.His1598Leu missense NM_001407924.1:c.4793A>T NP_001394853.1:p.His1598Leu missense NM_001407925.1:c.4793A>T NP_001394854.1:p.His1598Leu missense NM_001407926.1:c.4793A>T NP_001394855.1:p.His1598Leu missense NM_001407927.1:c.4790A>T NP_001394856.1:p.His1597Leu missense NM_001407928.1:c.4790A>T NP_001394857.1:p.His1597Leu missense NM_001407929.1:c.4790A>T NP_001394858.1:p.His1597Leu missense NM_001407930.1:c.4790A>T NP_001394859.1:p.His1597Leu missense NM_001407931.1:c.4790A>T NP_001394860.1:p.His1597Leu missense NM_001407932.1:c.4790A>T NP_001394861.1:p.His1597Leu missense NM_001407933.1:c.4790A>T NP_001394862.1:p.His1597Leu missense NM_001407934.1:c.4787A>T NP_001394863.1:p.His1596Leu missense NM_001407935.1:c.4787A>T NP_001394864.1:p.His1596Leu missense NM_001407936.1:c.4787A>T NP_001394865.1:p.His1596Leu missense NM_001407937.1:c.4934A>T NP_001394866.1:p.His1645Leu missense NM_001407938.1:c.4934A>T NP_001394867.1:p.His1645Leu missense NM_001407939.1:c.4931A>T NP_001394868.1:p.His1644Leu missense NM_001407940.1:c.4931A>T NP_001394869.1:p.His1644Leu missense NM_001407941.1:c.4928A>T NP_001394870.1:p.His1643Leu missense NM_001407942.1:c.4916A>T NP_001394871.1:p.His1639Leu missense NM_001407943.1:c.4913A>T NP_001394872.1:p.His1638Leu missense NM_001407944.1:c.4913A>T NP_001394873.1:p.His1638Leu missense NM_001407945.1:c.4913A>T NP_001394874.1:p.His1638Leu missense NM_001407946.1:c.4724A>T NP_001394875.1:p.His1575Leu missense NM_001407947.1:c.4724A>T NP_001394876.1:p.His1575Leu missense NM_001407948.1:c.4724A>T NP_001394877.1:p.His1575Leu missense NM_001407949.1:c.4724A>T NP_001394878.1:p.His1575Leu missense NM_001407950.1:c.4721A>T NP_001394879.1:p.His1574Leu missense NM_001407951.1:c.4721A>T NP_001394880.1:p.His1574Leu missense NM_001407952.1:c.4721A>T NP_001394881.1:p.His1574Leu missense NM_001407953.1:c.4721A>T NP_001394882.1:p.His1574Leu missense NM_001407954.1:c.4721A>T NP_001394883.1:p.His1574Leu missense NM_001407955.1:c.4721A>T NP_001394884.1:p.His1574Leu missense NM_001407956.1:c.4718A>T NP_001394885.1:p.His1573Leu missense NM_001407957.1:c.4718A>T NP_001394886.1:p.His1573Leu missense NM_001407958.1:c.4718A>T NP_001394887.1:p.His1573Leu missense NM_001407959.1:c.4676A>T NP_001394888.1:p.His1559Leu missense NM_001407960.1:c.4673A>T NP_001394889.1:p.His1558Leu missense NM_001407962.1:c.4673A>T NP_001394891.1:p.His1558Leu missense NM_001407963.1:c.4670A>T NP_001394892.1:p.His1557Leu missense NM_001407964.1:c.4595A>T NP_001394893.1:p.His1532Leu missense NM_001407965.1:c.4550A>T NP_001394894.1:p.His1517Leu missense NM_001407966.1:c.4169A>T NP_001394895.1:p.His1390Leu missense NM_001407967.1:c.4166A>T NP_001394896.1:p.His1389Leu missense NM_001407968.1:c.2453A>T NP_001394897.1:p.His818Leu missense NM_001407969.1:c.2450A>T NP_001394898.1:p.His817Leu missense NM_001407970.1:c.1814A>T NP_001394899.1:p.His605Leu missense NM_001407971.1:c.1814A>T NP_001394900.1:p.His605Leu missense NM_001407972.1:c.1811A>T NP_001394901.1:p.His604Leu missense NM_001407973.1:c.1748A>T NP_001394902.1:p.His583Leu missense NM_001407974.1:c.1748A>T NP_001394903.1:p.His583Leu missense NM_001407975.1:c.1748A>T NP_001394904.1:p.His583Leu missense NM_001407976.1:c.1748A>T NP_001394905.1:p.His583Leu missense NM_001407977.1:c.1748A>T NP_001394906.1:p.His583Leu missense NM_001407978.1:c.1748A>T NP_001394907.1:p.His583Leu missense NM_001407979.1:c.1745A>T NP_001394908.1:p.His582Leu missense NM_001407980.1:c.1745A>T NP_001394909.1:p.His582Leu missense NM_001407981.1:c.1745A>T NP_001394910.1:p.His582Leu missense NM_001407982.1:c.1745A>T NP_001394911.1:p.His582Leu missense NM_001407983.1:c.1745A>T NP_001394912.1:p.His582Leu missense NM_001407984.1:c.1745A>T NP_001394913.1:p.His582Leu missense NM_001407985.1:c.1745A>T NP_001394914.1:p.His582Leu missense NM_001407986.1:c.1745A>T NP_001394915.1:p.His582Leu missense NM_001407990.1:c.1745A>T NP_001394919.1:p.His582Leu missense NM_001407991.1:c.1745A>T NP_001394920.1:p.His582Leu missense NM_001407992.1:c.1745A>T NP_001394921.1:p.His582Leu missense NM_001407993.1:c.1745A>T NP_001394922.1:p.His582Leu missense NM_001408392.1:c.1742A>T NP_001395321.1:p.His581Leu missense NM_001408396.1:c.1742A>T NP_001395325.1:p.His581Leu missense NM_001408397.1:c.1742A>T NP_001395326.1:p.His581Leu missense NM_001408398.1:c.1742A>T NP_001395327.1:p.His581Leu missense NM_001408399.1:c.1742A>T NP_001395328.1:p.His581Leu missense NM_001408400.1:c.1742A>T NP_001395329.1:p.His581Leu missense NM_001408401.1:c.1742A>T NP_001395330.1:p.His581Leu missense NM_001408402.1:c.1742A>T NP_001395331.1:p.His581Leu missense NM_001408403.1:c.1742A>T NP_001395332.1:p.His581Leu missense NM_001408404.1:c.1742A>T NP_001395333.1:p.His581Leu missense NM_001408406.1:c.1739A>T NP_001395335.1:p.His580Leu missense NM_001408407.1:c.1739A>T NP_001395336.1:p.His580Leu missense NM_001408408.1:c.1739A>T NP_001395337.1:p.His580Leu missense NM_001408409.1:c.1736A>T NP_001395338.1:p.His579Leu missense NM_001408410.1:c.1673A>T NP_001395339.1:p.His558Leu missense NM_001408411.1:c.1670A>T NP_001395340.1:p.His557Leu missense NM_001408412.1:c.1667A>T NP_001395341.1:p.His556Leu missense NM_001408413.1:c.1667A>T NP_001395342.1:p.His556Leu missense NM_001408414.1:c.1667A>T NP_001395343.1:p.His556Leu missense NM_001408415.1:c.1667A>T NP_001395344.1:p.His556Leu missense NM_001408416.1:c.1667A>T NP_001395345.1:p.His556Leu missense NM_001408418.1:c.1631A>T NP_001395347.1:p.His544Leu missense NM_001408419.1:c.1631A>T NP_001395348.1:p.His544Leu missense NM_001408420.1:c.1631A>T NP_001395349.1:p.His544Leu missense NM_001408421.1:c.1628A>T NP_001395350.1:p.His543Leu missense NM_001408422.1:c.1628A>T NP_001395351.1:p.His543Leu missense NM_001408423.1:c.1628A>T NP_001395352.1:p.His543Leu missense NM_001408424.1:c.1628A>T NP_001395353.1:p.His543Leu missense NM_001408425.1:c.1625A>T NP_001395354.1:p.His542Leu missense NM_001408426.1:c.1625A>T NP_001395355.1:p.His542Leu missense NM_001408427.1:c.1625A>T NP_001395356.1:p.His542Leu missense NM_001408428.1:c.1625A>T NP_001395357.1:p.His542Leu missense NM_001408429.1:c.1625A>T NP_001395358.1:p.His542Leu missense NM_001408430.1:c.1625A>T NP_001395359.1:p.His542Leu missense NM_001408431.1:c.1625A>T NP_001395360.1:p.His542Leu missense NM_001408432.1:c.1622A>T NP_001395361.1:p.His541Leu missense NM_001408433.1:c.1622A>T NP_001395362.1:p.His541Leu missense NM_001408434.1:c.1622A>T NP_001395363.1:p.His541Leu missense NM_001408435.1:c.1622A>T NP_001395364.1:p.His541Leu missense NM_001408436.1:c.1622A>T NP_001395365.1:p.His541Leu missense NM_001408437.1:c.1622A>T NP_001395366.1:p.His541Leu missense NM_001408438.1:c.1622A>T NP_001395367.1:p.His541Leu missense NM_001408439.1:c.1622A>T NP_001395368.1:p.His541Leu missense NM_001408440.1:c.1622A>T NP_001395369.1:p.His541Leu missense NM_001408441.1:c.1622A>T NP_001395370.1:p.His541Leu missense NM_001408442.1:c.1622A>T NP_001395371.1:p.His541Leu missense NM_001408443.1:c.1622A>T NP_001395372.1:p.His541Leu missense NM_001408444.1:c.1622A>T NP_001395373.1:p.His541Leu missense NM_001408445.1:c.1619A>T NP_001395374.1:p.His540Leu missense NM_001408446.1:c.1619A>T NP_001395375.1:p.His540Leu missense NM_001408447.1:c.1619A>T NP_001395376.1:p.His540Leu missense NM_001408448.1:c.1619A>T NP_001395377.1:p.His540Leu missense NM_001408450.1:c.1619A>T NP_001395379.1:p.His540Leu missense NM_001408451.1:c.1613A>T NP_001395380.1:p.His538Leu missense NM_001408452.1:c.1607A>T NP_001395381.1:p.His536Leu missense NM_001408453.1:c.1607A>T NP_001395382.1:p.His536Leu missense NM_001408454.1:c.1607A>T NP_001395383.1:p.His536Leu missense NM_001408455.1:c.1607A>T NP_001395384.1:p.His536Leu missense NM_001408456.1:c.1607A>T NP_001395385.1:p.His536Leu missense NM_001408457.1:c.1607A>T NP_001395386.1:p.His536Leu missense NM_001408458.1:c.1604A>T NP_001395387.1:p.His535Leu missense NM_001408459.1:c.1604A>T NP_001395388.1:p.His535Leu missense NM_001408460.1:c.1604A>T NP_001395389.1:p.His535Leu missense NM_001408461.1:c.1604A>T NP_001395390.1:p.His535Leu missense NM_001408462.1:c.1604A>T NP_001395391.1:p.His535Leu missense NM_001408463.1:c.1604A>T NP_001395392.1:p.His535Leu missense NM_001408464.1:c.1604A>T NP_001395393.1:p.His535Leu missense NM_001408465.1:c.1604A>T NP_001395394.1:p.His535Leu missense NM_001408466.1:c.1604A>T NP_001395395.1:p.His535Leu missense NM_001408467.1:c.1604A>T NP_001395396.1:p.His535Leu missense NM_001408468.1:c.1601A>T NP_001395397.1:p.His534Leu missense NM_001408469.1:c.1601A>T NP_001395398.1:p.His534Leu missense NM_001408470.1:c.1601A>T NP_001395399.1:p.His534Leu missense NM_001408472.1:c.1745A>T NP_001395401.1:p.His582Leu missense NM_001408473.1:c.1742A>T NP_001395402.1:p.His581Leu missense NM_001408474.1:c.1547A>T NP_001395403.1:p.His516Leu missense NM_001408475.1:c.1544A>T NP_001395404.1:p.His515Leu missense NM_001408476.1:c.1544A>T NP_001395405.1:p.His515Leu missense NM_001408478.1:c.1538A>T NP_001395407.1:p.His513Leu missense NM_001408479.1:c.1538A>T NP_001395408.1:p.His513Leu missense NM_001408480.1:c.1538A>T NP_001395409.1:p.His513Leu missense NM_001408481.1:c.1535A>T NP_001395410.1:p.His512Leu missense NM_001408482.1:c.1535A>T NP_001395411.1:p.His512Leu missense NM_001408483.1:c.1535A>T NP_001395412.1:p.His512Leu missense NM_001408484.1:c.1535A>T NP_001395413.1:p.His512Leu missense NM_001408485.1:c.1535A>T NP_001395414.1:p.His512Leu missense NM_001408489.1:c.1535A>T NP_001395418.1:p.His512Leu missense NM_001408490.1:c.1535A>T NP_001395419.1:p.His512Leu missense NM_001408491.1:c.1535A>T NP_001395420.1:p.His512Leu missense NM_001408492.1:c.1532A>T NP_001395421.1:p.His511Leu missense NM_001408493.1:c.1532A>T NP_001395422.1:p.His511Leu missense NM_001408494.1:c.1508A>T NP_001395423.1:p.His503Leu missense NM_001408495.1:c.1502A>T NP_001395424.1:p.His501Leu missense NM_001408496.1:c.1484A>T NP_001395425.1:p.His495Leu missense NM_001408497.1:c.1484A>T NP_001395426.1:p.His495Leu missense NM_001408498.1:c.1484A>T NP_001395427.1:p.His495Leu missense NM_001408499.1:c.1484A>T NP_001395428.1:p.His495Leu missense NM_001408500.1:c.1484A>T NP_001395429.1:p.His495Leu missense NM_001408501.1:c.1484A>T NP_001395430.1:p.His495Leu missense NM_001408502.1:c.1481A>T NP_001395431.1:p.His494Leu missense NM_001408503.1:c.1481A>T NP_001395432.1:p.His494Leu missense NM_001408504.1:c.1481A>T NP_001395433.1:p.His494Leu missense NM_001408505.1:c.1478A>T NP_001395434.1:p.His493Leu missense NM_001408506.1:c.1421A>T NP_001395435.1:p.His474Leu missense NM_001408507.1:c.1418A>T NP_001395436.1:p.His473Leu missense NM_001408508.1:c.1409A>T NP_001395437.1:p.His470Leu missense NM_001408509.1:c.1406A>T NP_001395438.1:p.His469Leu missense NM_001408510.1:c.1367A>T NP_001395439.1:p.His456Leu missense NM_001408511.1:c.1364A>T NP_001395440.1:p.His455Leu missense NM_001408512.1:c.1244A>T NP_001395441.1:p.His415Leu missense NM_001408513.1:c.1217A>T NP_001395442.1:p.His406Leu missense NM_007297.4:c.4916A>T NP_009228.2:p.His1639Leu missense NM_007298.4:c.1745A>T NP_009229.2:p.His582Leu missense NM_007299.4:c.1745A>T NP_009230.2:p.His582Leu missense NM_007300.4:c.5120A>T NP_009231.2:p.His1707Leu missense NM_007304.2:c.1745A>T NP_009235.2:p.His582Leu missense NR_027676.2:n.5234A>T non-coding transcript variant NC_000017.11:g.43067625T>A NC_000017.10:g.41219642T>A NG_005905.2:g.150359A>T LRG_292:g.150359A>T LRG_292t1:c.5057A>T LRG_292p1:p.His1686Leu - Protein change
- H1707L, H1639L, H1686L, H582L, H1389L, H1574L, H1598L, H1660L, H1706L, H1708L, H455L, H493L, H503L, H535L, H540L, H558L, H1390L, H1517L, H1557L, H1559L, H1573L, H1575L, H1596L, H1615L, H1619L, H1637L, H1643L, H1659L, H1666L, H1667L, H406L, H415L, H469L, H473L, H474L, H495L, H512L, H516L, H536L, H541L, H542L, H544L, H556L, H580L, H581L, H583L, H817L, H1532L, H1597L, H1638L, H1644L, H1645L, H1682L, H1684L, H1685L, H494L, H501L, H543L, H557L, H818L, H1558L, H1614L, H1616L, H1617L, H1642L, H1658L, H1681L, H1683L, H456L, H470L, H511L, H513L, H515L, H534L, H538L, H579L, H604L, H605L
- Other names
- -
- Canonical SPDI
- NC_000017.11:43067624:T:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
functionally_abnormal; Sequence Ontology [ SO:0002218]The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5057A>T, a MISSENSE variant, produced a function score of -1.56, 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. [submitted by Brotman Baty Institute, University of Washington]
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13044 | 14850 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| not provided (1) |
no classification provided
|
- | RCV001076301.3 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
not provided
(-)
|
no classification provided
Method: in vitro
|
Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
|
Brotman Baty Institute, University of Washington
Accession: SCV001242022.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-1.55660726141289
|
Germline Functional Evidence
| Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|---|---|---|---|---|
|
functionally_abnormal
|
Method citation(s):
|
|
Brotman Baty Institute, University of Washington
Accession: SCV001242022.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5057A>T, a MISSENSE variant, produced a function score of -1.56, corresponding to a functional classification of LOSS_OF_FUNCTION. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5057A>T, a MISSENSE variant, produced a function score of -1.56, 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. (less)
|
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
| https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
Text-mined citations for rs730882166 ...
HelpRecord last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.