ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4853A>G (p.His1618Arg)
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.4853A>G (p.His1618Arg)
Variation ID: 482919 Accession: VCV000482919.10
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43071061 (GRCh38) [ NCBI UCSC ] 17: 41223078 (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 Jan 1, 2018 May 1, 2024 Sep 13, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4853A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.His1618Arg missense NM_001407571.1:c.4640A>G NP_001394500.1:p.His1547Arg missense NM_001407581.1:c.4919A>G NP_001394510.1:p.His1640Arg missense NM_001407582.1:c.4919A>G NP_001394511.1:p.His1640Arg missense NM_001407583.1:c.4916A>G NP_001394512.1:p.His1639Arg missense NM_001407585.1:c.4916A>G NP_001394514.1:p.His1639Arg missense NM_001407587.1:c.4916A>G NP_001394516.1:p.His1639Arg missense NM_001407590.1:c.4913A>G NP_001394519.1:p.His1638Arg missense NM_001407591.1:c.4913A>G NP_001394520.1:p.His1638Arg missense NM_001407593.1:c.4853A>G NP_001394522.1:p.His1618Arg missense NM_001407594.1:c.4853A>G NP_001394523.1:p.His1618Arg missense NM_001407596.1:c.4853A>G NP_001394525.1:p.His1618Arg missense NM_001407597.1:c.4853A>G NP_001394526.1:p.His1618Arg missense NM_001407598.1:c.4853A>G NP_001394527.1:p.His1618Arg missense NM_001407602.1:c.4853A>G NP_001394531.1:p.His1618Arg missense NM_001407603.1:c.4853A>G NP_001394532.1:p.His1618Arg missense NM_001407605.1:c.4853A>G NP_001394534.1:p.His1618Arg missense NM_001407610.1:c.4850A>G NP_001394539.1:p.His1617Arg missense NM_001407611.1:c.4850A>G NP_001394540.1:p.His1617Arg missense NM_001407612.1:c.4850A>G NP_001394541.1:p.His1617Arg missense NM_001407613.1:c.4850A>G NP_001394542.1:p.His1617Arg missense NM_001407614.1:c.4850A>G NP_001394543.1:p.His1617Arg missense NM_001407615.1:c.4850A>G NP_001394544.1:p.His1617Arg missense NM_001407616.1:c.4850A>G NP_001394545.1:p.His1617Arg missense NM_001407617.1:c.4850A>G NP_001394546.1:p.His1617Arg missense NM_001407618.1:c.4850A>G NP_001394547.1:p.His1617Arg missense NM_001407619.1:c.4850A>G NP_001394548.1:p.His1617Arg missense NM_001407620.1:c.4850A>G NP_001394549.1:p.His1617Arg missense NM_001407621.1:c.4850A>G NP_001394550.1:p.His1617Arg missense NM_001407622.1:c.4850A>G NP_001394551.1:p.His1617Arg missense NM_001407623.1:c.4850A>G NP_001394552.1:p.His1617Arg missense NM_001407624.1:c.4850A>G NP_001394553.1:p.His1617Arg missense NM_001407625.1:c.4850A>G NP_001394554.1:p.His1617Arg missense NM_001407626.1:c.4850A>G NP_001394555.1:p.His1617Arg missense NM_001407627.1:c.4847A>G NP_001394556.1:p.His1616Arg missense NM_001407628.1:c.4847A>G NP_001394557.1:p.His1616Arg missense NM_001407629.1:c.4847A>G NP_001394558.1:p.His1616Arg missense NM_001407630.1:c.4847A>G NP_001394559.1:p.His1616Arg missense NM_001407631.1:c.4847A>G NP_001394560.1:p.His1616Arg missense NM_001407632.1:c.4847A>G NP_001394561.1:p.His1616Arg missense NM_001407633.1:c.4847A>G NP_001394562.1:p.His1616Arg missense NM_001407634.1:c.4847A>G NP_001394563.1:p.His1616Arg missense NM_001407635.1:c.4847A>G NP_001394564.1:p.His1616Arg missense NM_001407636.1:c.4847A>G NP_001394565.1:p.His1616Arg missense NM_001407637.1:c.4847A>G NP_001394566.1:p.His1616Arg missense NM_001407638.1:c.4847A>G NP_001394567.1:p.His1616Arg missense NM_001407639.1:c.4847A>G NP_001394568.1:p.His1616Arg missense NM_001407640.1:c.4847A>G NP_001394569.1:p.His1616Arg missense NM_001407641.1:c.4847A>G NP_001394570.1:p.His1616Arg missense NM_001407642.1:c.4847A>G NP_001394571.1:p.His1616Arg missense NM_001407644.1:c.4844A>G NP_001394573.1:p.His1615Arg missense NM_001407645.1:c.4844A>G NP_001394574.1:p.His1615Arg missense NM_001407646.1:c.4841A>G NP_001394575.1:p.His1614Arg missense NM_001407647.1:c.4838A>G NP_001394576.1:p.His1613Arg missense NM_001407648.1:c.4796A>G NP_001394577.1:p.His1599Arg missense NM_001407649.1:c.4793A>G NP_001394578.1:p.His1598Arg missense NM_001407652.1:c.4853A>G NP_001394581.1:p.His1618Arg missense NM_001407653.1:c.4775A>G NP_001394582.1:p.His1592Arg missense NM_001407654.1:c.4775A>G NP_001394583.1:p.His1592Arg missense NM_001407655.1:c.4775A>G NP_001394584.1:p.His1592Arg missense NM_001407656.1:c.4772A>G NP_001394585.1:p.His1591Arg missense NM_001407657.1:c.4772A>G NP_001394586.1:p.His1591Arg missense NM_001407658.1:c.4772A>G NP_001394587.1:p.His1591Arg missense NM_001407659.1:c.4769A>G NP_001394588.1:p.His1590Arg missense NM_001407660.1:c.4769A>G NP_001394589.1:p.His1590Arg missense NM_001407661.1:c.4769A>G NP_001394590.1:p.His1590Arg missense NM_001407662.1:c.4769A>G NP_001394591.1:p.His1590Arg missense NM_001407663.1:c.4769A>G NP_001394592.1:p.His1590Arg missense NM_001407664.1:c.4730A>G NP_001394593.1:p.His1577Arg missense NM_001407665.1:c.4730A>G NP_001394594.1:p.His1577Arg missense NM_001407666.1:c.4730A>G NP_001394595.1:p.His1577Arg missense NM_001407667.1:c.4730A>G NP_001394596.1:p.His1577Arg missense NM_001407668.1:c.4730A>G NP_001394597.1:p.His1577Arg missense NM_001407669.1:c.4730A>G NP_001394598.1:p.His1577Arg missense NM_001407670.1:c.4727A>G NP_001394599.1:p.His1576Arg missense NM_001407671.1:c.4727A>G NP_001394600.1:p.His1576Arg missense NM_001407672.1:c.4727A>G NP_001394601.1:p.His1576Arg missense NM_001407673.1:c.4727A>G NP_001394602.1:p.His1576Arg missense NM_001407674.1:c.4727A>G NP_001394603.1:p.His1576Arg missense NM_001407675.1:c.4727A>G NP_001394604.1:p.His1576Arg missense NM_001407676.1:c.4727A>G NP_001394605.1:p.His1576Arg missense NM_001407677.1:c.4727A>G NP_001394606.1:p.His1576Arg missense NM_001407678.1:c.4727A>G NP_001394607.1:p.His1576Arg missense NM_001407679.1:c.4727A>G NP_001394608.1:p.His1576Arg missense NM_001407680.1:c.4727A>G NP_001394609.1:p.His1576Arg missense NM_001407681.1:c.4724A>G NP_001394610.1:p.His1575Arg missense NM_001407682.1:c.4724A>G NP_001394611.1:p.His1575Arg missense NM_001407683.1:c.4724A>G NP_001394612.1:p.His1575Arg missense NM_001407684.1:c.4853A>G NP_001394613.1:p.His1618Arg missense NM_001407685.1:c.4724A>G NP_001394614.1:p.His1575Arg missense NM_001407686.1:c.4724A>G NP_001394615.1:p.His1575Arg missense NM_001407687.1:c.4724A>G NP_001394616.1:p.His1575Arg missense NM_001407688.1:c.4724A>G NP_001394617.1:p.His1575Arg missense NM_001407689.1:c.4724A>G NP_001394618.1:p.His1575Arg missense NM_001407690.1:c.4721A>G NP_001394619.1:p.His1574Arg missense NM_001407691.1:c.4721A>G NP_001394620.1:p.His1574Arg missense NM_001407692.1:c.4712A>G NP_001394621.1:p.His1571Arg missense NM_001407694.1:c.4712A>G NP_001394623.1:p.His1571Arg missense NM_001407695.1:c.4712A>G NP_001394624.1:p.His1571Arg missense NM_001407696.1:c.4712A>G NP_001394625.1:p.His1571Arg missense NM_001407697.1:c.4712A>G NP_001394626.1:p.His1571Arg missense NM_001407698.1:c.4712A>G NP_001394627.1:p.His1571Arg missense NM_001407724.1:c.4712A>G NP_001394653.1:p.His1571Arg missense NM_001407725.1:c.4712A>G NP_001394654.1:p.His1571Arg missense NM_001407726.1:c.4712A>G NP_001394655.1:p.His1571Arg missense NM_001407727.1:c.4712A>G NP_001394656.1:p.His1571Arg missense NM_001407728.1:c.4712A>G NP_001394657.1:p.His1571Arg missense NM_001407729.1:c.4712A>G NP_001394658.1:p.His1571Arg missense NM_001407730.1:c.4712A>G NP_001394659.1:p.His1571Arg missense NM_001407731.1:c.4712A>G NP_001394660.1:p.His1571Arg missense NM_001407732.1:c.4709A>G NP_001394661.1:p.His1570Arg missense NM_001407733.1:c.4709A>G NP_001394662.1:p.His1570Arg missense NM_001407734.1:c.4709A>G NP_001394663.1:p.His1570Arg missense NM_001407735.1:c.4709A>G NP_001394664.1:p.His1570Arg missense NM_001407736.1:c.4709A>G NP_001394665.1:p.His1570Arg missense NM_001407737.1:c.4709A>G NP_001394666.1:p.His1570Arg missense NM_001407738.1:c.4709A>G NP_001394667.1:p.His1570Arg missense NM_001407739.1:c.4709A>G NP_001394668.1:p.His1570Arg missense NM_001407740.1:c.4709A>G NP_001394669.1:p.His1570Arg missense NM_001407741.1:c.4709A>G NP_001394670.1:p.His1570Arg missense NM_001407742.1:c.4709A>G NP_001394671.1:p.His1570Arg missense NM_001407743.1:c.4709A>G NP_001394672.1:p.His1570Arg missense NM_001407744.1:c.4709A>G NP_001394673.1:p.His1570Arg missense NM_001407745.1:c.4709A>G NP_001394674.1:p.His1570Arg missense NM_001407746.1:c.4709A>G NP_001394675.1:p.His1570Arg missense NM_001407747.1:c.4709A>G NP_001394676.1:p.His1570Arg missense NM_001407748.1:c.4709A>G NP_001394677.1:p.His1570Arg missense NM_001407749.1:c.4709A>G NP_001394678.1:p.His1570Arg missense NM_001407750.1:c.4709A>G NP_001394679.1:p.His1570Arg missense NM_001407751.1:c.4709A>G NP_001394680.1:p.His1570Arg missense NM_001407752.1:c.4709A>G NP_001394681.1:p.His1570Arg missense NM_001407838.1:c.4706A>G NP_001394767.1:p.His1569Arg missense NM_001407839.1:c.4706A>G NP_001394768.1:p.His1569Arg missense NM_001407841.1:c.4706A>G NP_001394770.1:p.His1569Arg missense NM_001407842.1:c.4706A>G NP_001394771.1:p.His1569Arg missense NM_001407843.1:c.4706A>G NP_001394772.1:p.His1569Arg missense NM_001407844.1:c.4706A>G NP_001394773.1:p.His1569Arg missense NM_001407845.1:c.4706A>G NP_001394774.1:p.His1569Arg missense NM_001407846.1:c.4706A>G NP_001394775.1:p.His1569Arg missense NM_001407847.1:c.4706A>G NP_001394776.1:p.His1569Arg missense NM_001407848.1:c.4706A>G NP_001394777.1:p.His1569Arg missense NM_001407849.1:c.4706A>G NP_001394778.1:p.His1569Arg missense NM_001407850.1:c.4706A>G NP_001394779.1:p.His1569Arg missense NM_001407851.1:c.4706A>G NP_001394780.1:p.His1569Arg missense NM_001407852.1:c.4706A>G NP_001394781.1:p.His1569Arg missense NM_001407853.1:c.4706A>G NP_001394782.1:p.His1569Arg missense NM_001407854.1:c.4853A>G NP_001394783.1:p.His1618Arg missense NM_001407858.1:c.4850A>G NP_001394787.1:p.His1617Arg missense NM_001407859.1:c.4850A>G NP_001394788.1:p.His1617Arg missense NM_001407860.1:c.4850A>G NP_001394789.1:p.His1617Arg missense NM_001407861.1:c.4847A>G NP_001394790.1:p.His1616Arg missense NM_001407862.1:c.4652A>G NP_001394791.1:p.His1551Arg missense NM_001407863.1:c.4727A>G NP_001394792.1:p.His1576Arg missense NM_001407874.1:c.4646A>G NP_001394803.1:p.His1549Arg missense NM_001407875.1:c.4646A>G NP_001394804.1:p.His1549Arg missense NM_001407879.1:c.4643A>G NP_001394808.1:p.His1548Arg missense NM_001407881.1:c.4643A>G NP_001394810.1:p.His1548Arg missense NM_001407882.1:c.4643A>G NP_001394811.1:p.His1548Arg missense NM_001407884.1:c.4643A>G NP_001394813.1:p.His1548Arg missense NM_001407885.1:c.4643A>G NP_001394814.1:p.His1548Arg missense NM_001407886.1:c.4643A>G NP_001394815.1:p.His1548Arg missense NM_001407887.1:c.4643A>G NP_001394816.1:p.His1548Arg missense NM_001407889.1:c.4643A>G NP_001394818.1:p.His1548Arg missense NM_001407894.1:c.4640A>G NP_001394823.1:p.His1547Arg missense NM_001407895.1:c.4640A>G NP_001394824.1:p.His1547Arg missense NM_001407896.1:c.4640A>G NP_001394825.1:p.His1547Arg missense NM_001407897.1:c.4640A>G NP_001394826.1:p.His1547Arg missense NM_001407898.1:c.4640A>G NP_001394827.1:p.His1547Arg missense NM_001407899.1:c.4640A>G NP_001394828.1:p.His1547Arg missense NM_001407900.1:c.4640A>G NP_001394829.1:p.His1547Arg missense NM_001407902.1:c.4640A>G NP_001394831.1:p.His1547Arg missense NM_001407904.1:c.4640A>G NP_001394833.1:p.His1547Arg missense NM_001407906.1:c.4640A>G NP_001394835.1:p.His1547Arg missense NM_001407907.1:c.4640A>G NP_001394836.1:p.His1547Arg missense NM_001407908.1:c.4640A>G NP_001394837.1:p.His1547Arg missense NM_001407909.1:c.4640A>G NP_001394838.1:p.His1547Arg missense NM_001407910.1:c.4640A>G NP_001394839.1:p.His1547Arg missense NM_001407915.1:c.4637A>G NP_001394844.1:p.His1546Arg missense NM_001407916.1:c.4637A>G NP_001394845.1:p.His1546Arg missense NM_001407917.1:c.4637A>G NP_001394846.1:p.His1546Arg missense NM_001407918.1:c.4637A>G NP_001394847.1:p.His1546Arg missense NM_001407919.1:c.4730A>G NP_001394848.1:p.His1577Arg missense NM_001407920.1:c.4589A>G NP_001394849.1:p.His1530Arg missense NM_001407921.1:c.4589A>G NP_001394850.1:p.His1530Arg missense NM_001407922.1:c.4589A>G NP_001394851.1:p.His1530Arg missense NM_001407923.1:c.4589A>G NP_001394852.1:p.His1530Arg missense NM_001407924.1:c.4589A>G NP_001394853.1:p.His1530Arg missense NM_001407925.1:c.4589A>G NP_001394854.1:p.His1530Arg missense NM_001407926.1:c.4589A>G NP_001394855.1:p.His1530Arg missense NM_001407927.1:c.4586A>G NP_001394856.1:p.His1529Arg missense NM_001407928.1:c.4586A>G NP_001394857.1:p.His1529Arg missense NM_001407929.1:c.4586A>G NP_001394858.1:p.His1529Arg missense NM_001407930.1:c.4586A>G NP_001394859.1:p.His1529Arg missense NM_001407931.1:c.4586A>G NP_001394860.1:p.His1529Arg missense NM_001407932.1:c.4586A>G NP_001394861.1:p.His1529Arg missense NM_001407933.1:c.4586A>G NP_001394862.1:p.His1529Arg missense NM_001407934.1:c.4583A>G NP_001394863.1:p.His1528Arg missense NM_001407935.1:c.4583A>G NP_001394864.1:p.His1528Arg missense NM_001407936.1:c.4583A>G NP_001394865.1:p.His1528Arg missense NM_001407937.1:c.4730A>G NP_001394866.1:p.His1577Arg missense NM_001407938.1:c.4730A>G NP_001394867.1:p.His1577Arg missense NM_001407939.1:c.4727A>G NP_001394868.1:p.His1576Arg missense NM_001407940.1:c.4727A>G NP_001394869.1:p.His1576Arg missense NM_001407941.1:c.4724A>G NP_001394870.1:p.His1575Arg missense NM_001407942.1:c.4712A>G NP_001394871.1:p.His1571Arg missense NM_001407943.1:c.4709A>G NP_001394872.1:p.His1570Arg missense NM_001407944.1:c.4709A>G NP_001394873.1:p.His1570Arg missense NM_001407945.1:c.4709A>G NP_001394874.1:p.His1570Arg missense NM_001407946.1:c.4520A>G NP_001394875.1:p.His1507Arg missense NM_001407947.1:c.4520A>G NP_001394876.1:p.His1507Arg missense NM_001407948.1:c.4520A>G NP_001394877.1:p.His1507Arg missense NM_001407949.1:c.4520A>G NP_001394878.1:p.His1507Arg missense NM_001407950.1:c.4517A>G NP_001394879.1:p.His1506Arg missense NM_001407951.1:c.4517A>G NP_001394880.1:p.His1506Arg missense NM_001407952.1:c.4517A>G NP_001394881.1:p.His1506Arg missense NM_001407953.1:c.4517A>G NP_001394882.1:p.His1506Arg missense NM_001407954.1:c.4517A>G NP_001394883.1:p.His1506Arg missense NM_001407955.1:c.4517A>G NP_001394884.1:p.His1506Arg missense NM_001407956.1:c.4514A>G NP_001394885.1:p.His1505Arg missense NM_001407957.1:c.4514A>G NP_001394886.1:p.His1505Arg missense NM_001407958.1:c.4514A>G NP_001394887.1:p.His1505Arg missense NM_001407959.1:c.4472A>G NP_001394888.1:p.His1491Arg missense NM_001407960.1:c.4469A>G NP_001394889.1:p.His1490Arg missense NM_001407962.1:c.4469A>G NP_001394891.1:p.His1490Arg missense NM_001407963.1:c.4466A>G NP_001394892.1:p.His1489Arg missense NM_001407964.1:c.4391A>G NP_001394893.1:p.His1464Arg missense NM_001407965.1:c.4346A>G NP_001394894.1:p.His1449Arg missense NM_001407966.1:c.3965A>G NP_001394895.1:p.His1322Arg missense NM_001407967.1:c.3962A>G NP_001394896.1:p.His1321Arg missense NM_001407968.1:c.2249A>G NP_001394897.1:p.His750Arg missense NM_001407969.1:c.2246A>G NP_001394898.1:p.His749Arg missense NM_001407970.1:c.1610A>G NP_001394899.1:p.His537Arg missense NM_001407971.1:c.1610A>G NP_001394900.1:p.His537Arg missense NM_001407972.1:c.1607A>G NP_001394901.1:p.His536Arg missense NM_001407973.1:c.1544A>G NP_001394902.1:p.His515Arg missense NM_001407974.1:c.1544A>G NP_001394903.1:p.His515Arg missense NM_001407975.1:c.1544A>G NP_001394904.1:p.His515Arg missense NM_001407976.1:c.1544A>G NP_001394905.1:p.His515Arg missense NM_001407977.1:c.1544A>G NP_001394906.1:p.His515Arg missense NM_001407978.1:c.1544A>G NP_001394907.1:p.His515Arg missense NM_001407979.1:c.1541A>G NP_001394908.1:p.His514Arg missense NM_001407980.1:c.1541A>G NP_001394909.1:p.His514Arg missense NM_001407981.1:c.1541A>G NP_001394910.1:p.His514Arg missense NM_001407982.1:c.1541A>G NP_001394911.1:p.His514Arg missense NM_001407983.1:c.1541A>G NP_001394912.1:p.His514Arg missense NM_001407984.1:c.1541A>G NP_001394913.1:p.His514Arg missense NM_001407985.1:c.1541A>G NP_001394914.1:p.His514Arg missense NM_001407986.1:c.1541A>G NP_001394915.1:p.His514Arg missense NM_001407990.1:c.1541A>G NP_001394919.1:p.His514Arg missense NM_001407991.1:c.1541A>G NP_001394920.1:p.His514Arg missense NM_001407992.1:c.1541A>G NP_001394921.1:p.His514Arg missense NM_001407993.1:c.1541A>G NP_001394922.1:p.His514Arg missense NM_001408392.1:c.1538A>G NP_001395321.1:p.His513Arg missense NM_001408396.1:c.1538A>G NP_001395325.1:p.His513Arg missense NM_001408397.1:c.1538A>G NP_001395326.1:p.His513Arg missense NM_001408398.1:c.1538A>G NP_001395327.1:p.His513Arg missense NM_001408399.1:c.1538A>G NP_001395328.1:p.His513Arg missense NM_001408400.1:c.1538A>G NP_001395329.1:p.His513Arg missense NM_001408401.1:c.1538A>G NP_001395330.1:p.His513Arg missense NM_001408402.1:c.1538A>G NP_001395331.1:p.His513Arg missense NM_001408403.1:c.1538A>G NP_001395332.1:p.His513Arg missense NM_001408404.1:c.1538A>G NP_001395333.1:p.His513Arg missense NM_001408406.1:c.1535A>G NP_001395335.1:p.His512Arg missense NM_001408407.1:c.1535A>G NP_001395336.1:p.His512Arg missense NM_001408408.1:c.1535A>G NP_001395337.1:p.His512Arg missense NM_001408409.1:c.1532A>G NP_001395338.1:p.His511Arg missense NM_001408410.1:c.1469A>G NP_001395339.1:p.His490Arg missense NM_001408411.1:c.1466A>G NP_001395340.1:p.His489Arg missense NM_001408412.1:c.1463A>G NP_001395341.1:p.His488Arg missense NM_001408413.1:c.1463A>G NP_001395342.1:p.His488Arg missense NM_001408414.1:c.1463A>G NP_001395343.1:p.His488Arg missense NM_001408415.1:c.1463A>G NP_001395344.1:p.His488Arg missense NM_001408416.1:c.1463A>G NP_001395345.1:p.His488Arg missense NM_001408418.1:c.1427A>G NP_001395347.1:p.His476Arg missense NM_001408419.1:c.1427A>G NP_001395348.1:p.His476Arg missense NM_001408420.1:c.1427A>G NP_001395349.1:p.His476Arg missense NM_001408421.1:c.1424A>G NP_001395350.1:p.His475Arg missense NM_001408422.1:c.1424A>G NP_001395351.1:p.His475Arg missense NM_001408423.1:c.1424A>G NP_001395352.1:p.His475Arg missense NM_001408424.1:c.1424A>G NP_001395353.1:p.His475Arg missense NM_001408425.1:c.1421A>G NP_001395354.1:p.His474Arg missense NM_001408426.1:c.1421A>G NP_001395355.1:p.His474Arg missense NM_001408427.1:c.1421A>G NP_001395356.1:p.His474Arg missense NM_001408428.1:c.1421A>G NP_001395357.1:p.His474Arg missense NM_001408429.1:c.1421A>G NP_001395358.1:p.His474Arg missense NM_001408430.1:c.1421A>G NP_001395359.1:p.His474Arg missense NM_001408431.1:c.1421A>G NP_001395360.1:p.His474Arg missense NM_001408432.1:c.1418A>G NP_001395361.1:p.His473Arg missense NM_001408433.1:c.1418A>G NP_001395362.1:p.His473Arg missense NM_001408434.1:c.1418A>G NP_001395363.1:p.His473Arg missense NM_001408435.1:c.1418A>G NP_001395364.1:p.His473Arg missense NM_001408436.1:c.1418A>G NP_001395365.1:p.His473Arg missense NM_001408437.1:c.1418A>G NP_001395366.1:p.His473Arg missense NM_001408438.1:c.1418A>G NP_001395367.1:p.His473Arg missense NM_001408439.1:c.1418A>G NP_001395368.1:p.His473Arg missense NM_001408440.1:c.1418A>G NP_001395369.1:p.His473Arg missense NM_001408441.1:c.1418A>G NP_001395370.1:p.His473Arg missense NM_001408442.1:c.1418A>G NP_001395371.1:p.His473Arg missense NM_001408443.1:c.1418A>G NP_001395372.1:p.His473Arg missense NM_001408444.1:c.1418A>G NP_001395373.1:p.His473Arg missense NM_001408445.1:c.1415A>G NP_001395374.1:p.His472Arg missense NM_001408446.1:c.1415A>G NP_001395375.1:p.His472Arg missense NM_001408447.1:c.1415A>G NP_001395376.1:p.His472Arg missense NM_001408448.1:c.1415A>G NP_001395377.1:p.His472Arg missense NM_001408450.1:c.1415A>G NP_001395379.1:p.His472Arg missense NM_001408451.1:c.1409A>G NP_001395380.1:p.His470Arg missense NM_001408452.1:c.1403A>G NP_001395381.1:p.His468Arg missense NM_001408453.1:c.1403A>G NP_001395382.1:p.His468Arg missense NM_001408454.1:c.1403A>G NP_001395383.1:p.His468Arg missense NM_001408455.1:c.1403A>G NP_001395384.1:p.His468Arg missense NM_001408456.1:c.1403A>G NP_001395385.1:p.His468Arg missense NM_001408457.1:c.1403A>G NP_001395386.1:p.His468Arg missense NM_001408458.1:c.1400A>G NP_001395387.1:p.His467Arg missense NM_001408459.1:c.1400A>G NP_001395388.1:p.His467Arg missense NM_001408460.1:c.1400A>G NP_001395389.1:p.His467Arg missense NM_001408461.1:c.1400A>G NP_001395390.1:p.His467Arg missense NM_001408462.1:c.1400A>G NP_001395391.1:p.His467Arg missense NM_001408463.1:c.1400A>G NP_001395392.1:p.His467Arg missense NM_001408464.1:c.1400A>G NP_001395393.1:p.His467Arg missense NM_001408465.1:c.1400A>G NP_001395394.1:p.His467Arg missense NM_001408466.1:c.1400A>G NP_001395395.1:p.His467Arg missense NM_001408467.1:c.1400A>G NP_001395396.1:p.His467Arg missense NM_001408468.1:c.1397A>G NP_001395397.1:p.His466Arg missense NM_001408469.1:c.1397A>G NP_001395398.1:p.His466Arg missense NM_001408470.1:c.1397A>G NP_001395399.1:p.His466Arg missense NM_001408472.1:c.1541A>G NP_001395401.1:p.His514Arg missense NM_001408473.1:c.1538A>G NP_001395402.1:p.His513Arg missense NM_001408474.1:c.1343A>G NP_001395403.1:p.His448Arg missense NM_001408475.1:c.1340A>G NP_001395404.1:p.His447Arg missense NM_001408476.1:c.1340A>G NP_001395405.1:p.His447Arg missense NM_001408478.1:c.1334A>G NP_001395407.1:p.His445Arg missense NM_001408479.1:c.1334A>G NP_001395408.1:p.His445Arg missense NM_001408480.1:c.1334A>G NP_001395409.1:p.His445Arg missense NM_001408481.1:c.1331A>G NP_001395410.1:p.His444Arg missense NM_001408482.1:c.1331A>G NP_001395411.1:p.His444Arg missense NM_001408483.1:c.1331A>G NP_001395412.1:p.His444Arg missense NM_001408484.1:c.1331A>G NP_001395413.1:p.His444Arg missense NM_001408485.1:c.1331A>G NP_001395414.1:p.His444Arg missense NM_001408489.1:c.1331A>G NP_001395418.1:p.His444Arg missense NM_001408490.1:c.1331A>G NP_001395419.1:p.His444Arg missense NM_001408491.1:c.1331A>G NP_001395420.1:p.His444Arg missense NM_001408492.1:c.1328A>G NP_001395421.1:p.His443Arg missense NM_001408493.1:c.1328A>G NP_001395422.1:p.His443Arg missense NM_001408494.1:c.1304A>G NP_001395423.1:p.His435Arg missense NM_001408495.1:c.1298A>G NP_001395424.1:p.His433Arg missense NM_001408496.1:c.1280A>G NP_001395425.1:p.His427Arg missense NM_001408497.1:c.1280A>G NP_001395426.1:p.His427Arg missense NM_001408498.1:c.1280A>G NP_001395427.1:p.His427Arg missense NM_001408499.1:c.1280A>G NP_001395428.1:p.His427Arg missense NM_001408500.1:c.1280A>G NP_001395429.1:p.His427Arg missense NM_001408501.1:c.1280A>G NP_001395430.1:p.His427Arg missense NM_001408502.1:c.1277A>G NP_001395431.1:p.His426Arg missense NM_001408503.1:c.1277A>G NP_001395432.1:p.His426Arg missense NM_001408504.1:c.1277A>G NP_001395433.1:p.His426Arg missense NM_001408505.1:c.1274A>G NP_001395434.1:p.His425Arg missense NM_001408506.1:c.1217A>G NP_001395435.1:p.His406Arg missense NM_001408507.1:c.1214A>G NP_001395436.1:p.His405Arg missense NM_001408508.1:c.1205A>G NP_001395437.1:p.His402Arg missense NM_001408509.1:c.1202A>G NP_001395438.1:p.His401Arg missense NM_001408510.1:c.1163A>G NP_001395439.1:p.His388Arg missense NM_001408511.1:c.1160A>G NP_001395440.1:p.His387Arg missense NM_001408512.1:c.1040A>G NP_001395441.1:p.His347Arg missense NM_001408513.1:c.1013A>G NP_001395442.1:p.His338Arg missense NM_007297.4:c.4712A>G NP_009228.2:p.His1571Arg missense NM_007298.4:c.1541A>G NP_009229.2:p.His514Arg missense NM_007299.4:c.1541A>G NP_009230.2:p.His514Arg missense NM_007300.3:c.4916A>G NM_007300.4:c.4916A>G NP_009231.2:p.His1639Arg missense NM_007304.2:c.1541A>G NP_009235.2:p.His514Arg missense NR_027676.2:n.5030A>G non-coding transcript variant NC_000017.11:g.43071061T>C NC_000017.10:g.41223078T>C NG_005905.2:g.146923A>G LRG_292:g.146923A>G LRG_292t1:c.4853A>G LRG_292p1:p.His1618Arg - Protein change
- H1618R, H514R, H1571R, H1639R, H1449R, H1464R, H1505R, H1529R, H1574R, H1577R, H1590R, H1599R, H1613R, H1617R, H406R, H433R, H445R, H472R, H474R, H511R, H750R, H1489R, H1507R, H1530R, H1551R, H1570R, H1575R, H1598R, H1638R, H1640R, H338R, H401R, H402R, H466R, H470R, H473R, H476R, H512R, H1322R, H1490R, H1491R, H1528R, H1549R, H1569R, H1591R, H1592R, H1614R, H1616R, H347R, H405R, H426R, H435R, H444R, H447R, H468R, H475R, H489R, H513R, H515R, H1321R, H1506R, H1546R, H1547R, H1548R, H1576R, H1615R, H387R, H388R, H425R, H427R, H443R, H448R, H467R, H488R, H490R, H536R, H537R, H749R
- Other names
- -
- Canonical SPDI
- NC_000017.11:43071060:T:C
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
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.
The Genome Aggregation Database (gnomAD), exomes 0.00000
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 |
12894 | 14680 |
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. |
---|---|---|---|---|
Uncertain significance (1) |
criteria provided, single submitter
|
Aug 9, 2016 | RCV000567085.5 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Sep 25, 2021 | RCV001858256.5 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Sep 13, 2023 | RCV003327428.1 |
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. |
|
---|---|---|---|---|---|
Uncertain significance
(Sep 13, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
Accession: SCV004034291.1
First in ClinVar: Sep 16, 2023 Last updated: Sep 16, 2023 |
Comment:
This sequence change replaces histidine with arginine at codon 1639 of the BRCA1 protein (p.His1639Arg). The histidine residue is weakly conserved and there is a … (more)
This sequence change replaces histidine with arginine at codon 1639 of the BRCA1 protein (p.His1639Arg). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 482919). In-silico predictions show benign computational verdict based on 10 benign predictions from DANN, DEOGEN2, EIGEN, FATHMM-MKL, LIST-S2, MVP, MutationAssessor, MutationTaster, PrimateAI and SIFT vs 2 pathogenic predictions from BayesDel_addAF and M-CAP and the position is not highly conserved. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
Age: 50-59 years
Sex: female
|
|
Uncertain significance
(Sep 25, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV002313420.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces histidine with arginine at codon 1618 of the BRCA1 protein (p.His1618Arg). The histidine residue is weakly conserved and there is a … (more)
This sequence change replaces histidine with arginine at codon 1618 of the BRCA1 protein (p.His1618Arg). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and arginine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 482919). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). (less)
|
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Uncertain significance
(Aug 09, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000668439.5
First in ClinVar: Jan 01, 2018 Last updated: May 01, 2024 |
Comment:
The p.H1618R variant (also known as c.4853A>G), located in coding exon 14 of the BRCA1 gene, results from an A to G substitution at nucleotide … (more)
The p.H1618R variant (also known as c.4853A>G), located in coding exon 14 of the BRCA1 gene, results from an A to G substitution at nucleotide position 4853. The histidine at codon 1618 is replaced by arginine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.0003% (greater than 300000 alleles tested) in our clinical cohort. This amino acid position is poorly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
|
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs1277159752 ...
HelpRecord last updated Jun 02, 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.