ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4840C>T (p.Pro1614Ser)
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.4840C>T (p.Pro1614Ser)
Variation ID: 55301 Accession: VCV000055301.72
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43071074 (GRCh38) [ NCBI UCSC ] 17: 41223091 (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 1, 2014 May 1, 2024 Aug 10, 2015 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4840C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Pro1614Ser missense NM_001407571.1:c.4627C>T NP_001394500.1:p.Pro1543Ser missense NM_001407581.1:c.4906C>T NP_001394510.1:p.Pro1636Ser missense NM_001407582.1:c.4906C>T NP_001394511.1:p.Pro1636Ser missense NM_001407583.1:c.4903C>T NP_001394512.1:p.Pro1635Ser missense NM_001407585.1:c.4903C>T NP_001394514.1:p.Pro1635Ser missense NM_001407587.1:c.4903C>T NP_001394516.1:p.Pro1635Ser missense NM_001407590.1:c.4900C>T NP_001394519.1:p.Pro1634Ser missense NM_001407591.1:c.4900C>T NP_001394520.1:p.Pro1634Ser missense NM_001407593.1:c.4840C>T NP_001394522.1:p.Pro1614Ser missense NM_001407594.1:c.4840C>T NP_001394523.1:p.Pro1614Ser missense NM_001407596.1:c.4840C>T NP_001394525.1:p.Pro1614Ser missense NM_001407597.1:c.4840C>T NP_001394526.1:p.Pro1614Ser missense NM_001407598.1:c.4840C>T NP_001394527.1:p.Pro1614Ser missense NM_001407602.1:c.4840C>T NP_001394531.1:p.Pro1614Ser missense NM_001407603.1:c.4840C>T NP_001394532.1:p.Pro1614Ser missense NM_001407605.1:c.4840C>T NP_001394534.1:p.Pro1614Ser missense NM_001407610.1:c.4837C>T NP_001394539.1:p.Pro1613Ser missense NM_001407611.1:c.4837C>T NP_001394540.1:p.Pro1613Ser missense NM_001407612.1:c.4837C>T NP_001394541.1:p.Pro1613Ser missense NM_001407613.1:c.4837C>T NP_001394542.1:p.Pro1613Ser missense NM_001407614.1:c.4837C>T NP_001394543.1:p.Pro1613Ser missense NM_001407615.1:c.4837C>T NP_001394544.1:p.Pro1613Ser missense NM_001407616.1:c.4837C>T NP_001394545.1:p.Pro1613Ser missense NM_001407617.1:c.4837C>T NP_001394546.1:p.Pro1613Ser missense NM_001407618.1:c.4837C>T NP_001394547.1:p.Pro1613Ser missense NM_001407619.1:c.4837C>T NP_001394548.1:p.Pro1613Ser missense NM_001407620.1:c.4837C>T NP_001394549.1:p.Pro1613Ser missense NM_001407621.1:c.4837C>T NP_001394550.1:p.Pro1613Ser missense NM_001407622.1:c.4837C>T NP_001394551.1:p.Pro1613Ser missense NM_001407623.1:c.4837C>T NP_001394552.1:p.Pro1613Ser missense NM_001407624.1:c.4837C>T NP_001394553.1:p.Pro1613Ser missense NM_001407625.1:c.4837C>T NP_001394554.1:p.Pro1613Ser missense NM_001407626.1:c.4837C>T NP_001394555.1:p.Pro1613Ser missense NM_001407627.1:c.4834C>T NP_001394556.1:p.Pro1612Ser missense NM_001407628.1:c.4834C>T NP_001394557.1:p.Pro1612Ser missense NM_001407629.1:c.4834C>T NP_001394558.1:p.Pro1612Ser missense NM_001407630.1:c.4834C>T NP_001394559.1:p.Pro1612Ser missense NM_001407631.1:c.4834C>T NP_001394560.1:p.Pro1612Ser missense NM_001407632.1:c.4834C>T NP_001394561.1:p.Pro1612Ser missense NM_001407633.1:c.4834C>T NP_001394562.1:p.Pro1612Ser missense NM_001407634.1:c.4834C>T NP_001394563.1:p.Pro1612Ser missense NM_001407635.1:c.4834C>T NP_001394564.1:p.Pro1612Ser missense NM_001407636.1:c.4834C>T NP_001394565.1:p.Pro1612Ser missense NM_001407637.1:c.4834C>T NP_001394566.1:p.Pro1612Ser missense NM_001407638.1:c.4834C>T NP_001394567.1:p.Pro1612Ser missense NM_001407639.1:c.4834C>T NP_001394568.1:p.Pro1612Ser missense NM_001407640.1:c.4834C>T NP_001394569.1:p.Pro1612Ser missense NM_001407641.1:c.4834C>T NP_001394570.1:p.Pro1612Ser missense NM_001407642.1:c.4834C>T NP_001394571.1:p.Pro1612Ser missense NM_001407644.1:c.4831C>T NP_001394573.1:p.Pro1611Ser missense NM_001407645.1:c.4831C>T NP_001394574.1:p.Pro1611Ser missense NM_001407646.1:c.4828C>T NP_001394575.1:p.Pro1610Ser missense NM_001407647.1:c.4825C>T NP_001394576.1:p.Pro1609Ser missense NM_001407648.1:c.4783C>T NP_001394577.1:p.Pro1595Ser missense NM_001407649.1:c.4780C>T NP_001394578.1:p.Pro1594Ser missense NM_001407652.1:c.4840C>T NP_001394581.1:p.Pro1614Ser missense NM_001407653.1:c.4762C>T NP_001394582.1:p.Pro1588Ser missense NM_001407654.1:c.4762C>T NP_001394583.1:p.Pro1588Ser missense NM_001407655.1:c.4762C>T NP_001394584.1:p.Pro1588Ser missense NM_001407656.1:c.4759C>T NP_001394585.1:p.Pro1587Ser missense NM_001407657.1:c.4759C>T NP_001394586.1:p.Pro1587Ser missense NM_001407658.1:c.4759C>T NP_001394587.1:p.Pro1587Ser missense NM_001407659.1:c.4756C>T NP_001394588.1:p.Pro1586Ser missense NM_001407660.1:c.4756C>T NP_001394589.1:p.Pro1586Ser missense NM_001407661.1:c.4756C>T NP_001394590.1:p.Pro1586Ser missense NM_001407662.1:c.4756C>T NP_001394591.1:p.Pro1586Ser missense NM_001407663.1:c.4756C>T NP_001394592.1:p.Pro1586Ser missense NM_001407664.1:c.4717C>T NP_001394593.1:p.Pro1573Ser missense NM_001407665.1:c.4717C>T NP_001394594.1:p.Pro1573Ser missense NM_001407666.1:c.4717C>T NP_001394595.1:p.Pro1573Ser missense NM_001407667.1:c.4717C>T NP_001394596.1:p.Pro1573Ser missense NM_001407668.1:c.4717C>T NP_001394597.1:p.Pro1573Ser missense NM_001407669.1:c.4717C>T NP_001394598.1:p.Pro1573Ser missense NM_001407670.1:c.4714C>T NP_001394599.1:p.Pro1572Ser missense NM_001407671.1:c.4714C>T NP_001394600.1:p.Pro1572Ser missense NM_001407672.1:c.4714C>T NP_001394601.1:p.Pro1572Ser missense NM_001407673.1:c.4714C>T NP_001394602.1:p.Pro1572Ser missense NM_001407674.1:c.4714C>T NP_001394603.1:p.Pro1572Ser missense NM_001407675.1:c.4714C>T NP_001394604.1:p.Pro1572Ser missense NM_001407676.1:c.4714C>T NP_001394605.1:p.Pro1572Ser missense NM_001407677.1:c.4714C>T NP_001394606.1:p.Pro1572Ser missense NM_001407678.1:c.4714C>T NP_001394607.1:p.Pro1572Ser missense NM_001407679.1:c.4714C>T NP_001394608.1:p.Pro1572Ser missense NM_001407680.1:c.4714C>T NP_001394609.1:p.Pro1572Ser missense NM_001407681.1:c.4711C>T NP_001394610.1:p.Pro1571Ser missense NM_001407682.1:c.4711C>T NP_001394611.1:p.Pro1571Ser missense NM_001407683.1:c.4711C>T NP_001394612.1:p.Pro1571Ser missense NM_001407684.1:c.4840C>T NP_001394613.1:p.Pro1614Ser missense NM_001407685.1:c.4711C>T NP_001394614.1:p.Pro1571Ser missense NM_001407686.1:c.4711C>T NP_001394615.1:p.Pro1571Ser missense NM_001407687.1:c.4711C>T NP_001394616.1:p.Pro1571Ser missense NM_001407688.1:c.4711C>T NP_001394617.1:p.Pro1571Ser missense NM_001407689.1:c.4711C>T NP_001394618.1:p.Pro1571Ser missense NM_001407690.1:c.4708C>T NP_001394619.1:p.Pro1570Ser missense NM_001407691.1:c.4708C>T NP_001394620.1:p.Pro1570Ser missense NM_001407692.1:c.4699C>T NP_001394621.1:p.Pro1567Ser missense NM_001407694.1:c.4699C>T NP_001394623.1:p.Pro1567Ser missense NM_001407695.1:c.4699C>T NP_001394624.1:p.Pro1567Ser missense NM_001407696.1:c.4699C>T NP_001394625.1:p.Pro1567Ser missense NM_001407697.1:c.4699C>T NP_001394626.1:p.Pro1567Ser missense NM_001407698.1:c.4699C>T NP_001394627.1:p.Pro1567Ser missense NM_001407724.1:c.4699C>T NP_001394653.1:p.Pro1567Ser missense NM_001407725.1:c.4699C>T NP_001394654.1:p.Pro1567Ser missense NM_001407726.1:c.4699C>T NP_001394655.1:p.Pro1567Ser missense NM_001407727.1:c.4699C>T NP_001394656.1:p.Pro1567Ser missense NM_001407728.1:c.4699C>T NP_001394657.1:p.Pro1567Ser missense NM_001407729.1:c.4699C>T NP_001394658.1:p.Pro1567Ser missense NM_001407730.1:c.4699C>T NP_001394659.1:p.Pro1567Ser missense NM_001407731.1:c.4699C>T NP_001394660.1:p.Pro1567Ser missense NM_001407732.1:c.4696C>T NP_001394661.1:p.Pro1566Ser missense NM_001407733.1:c.4696C>T NP_001394662.1:p.Pro1566Ser missense NM_001407734.1:c.4696C>T NP_001394663.1:p.Pro1566Ser missense NM_001407735.1:c.4696C>T NP_001394664.1:p.Pro1566Ser missense NM_001407736.1:c.4696C>T NP_001394665.1:p.Pro1566Ser missense NM_001407737.1:c.4696C>T NP_001394666.1:p.Pro1566Ser missense NM_001407738.1:c.4696C>T NP_001394667.1:p.Pro1566Ser missense NM_001407739.1:c.4696C>T NP_001394668.1:p.Pro1566Ser missense NM_001407740.1:c.4696C>T NP_001394669.1:p.Pro1566Ser missense NM_001407741.1:c.4696C>T NP_001394670.1:p.Pro1566Ser missense NM_001407742.1:c.4696C>T NP_001394671.1:p.Pro1566Ser missense NM_001407743.1:c.4696C>T NP_001394672.1:p.Pro1566Ser missense NM_001407744.1:c.4696C>T NP_001394673.1:p.Pro1566Ser missense NM_001407745.1:c.4696C>T NP_001394674.1:p.Pro1566Ser missense NM_001407746.1:c.4696C>T NP_001394675.1:p.Pro1566Ser missense NM_001407747.1:c.4696C>T NP_001394676.1:p.Pro1566Ser missense NM_001407748.1:c.4696C>T NP_001394677.1:p.Pro1566Ser missense NM_001407749.1:c.4696C>T NP_001394678.1:p.Pro1566Ser missense NM_001407750.1:c.4696C>T NP_001394679.1:p.Pro1566Ser missense NM_001407751.1:c.4696C>T NP_001394680.1:p.Pro1566Ser missense NM_001407752.1:c.4696C>T NP_001394681.1:p.Pro1566Ser missense NM_001407838.1:c.4693C>T NP_001394767.1:p.Pro1565Ser missense NM_001407839.1:c.4693C>T NP_001394768.1:p.Pro1565Ser missense NM_001407841.1:c.4693C>T NP_001394770.1:p.Pro1565Ser missense NM_001407842.1:c.4693C>T NP_001394771.1:p.Pro1565Ser missense NM_001407843.1:c.4693C>T NP_001394772.1:p.Pro1565Ser missense NM_001407844.1:c.4693C>T NP_001394773.1:p.Pro1565Ser missense NM_001407845.1:c.4693C>T NP_001394774.1:p.Pro1565Ser missense NM_001407846.1:c.4693C>T NP_001394775.1:p.Pro1565Ser missense NM_001407847.1:c.4693C>T NP_001394776.1:p.Pro1565Ser missense NM_001407848.1:c.4693C>T NP_001394777.1:p.Pro1565Ser missense NM_001407849.1:c.4693C>T NP_001394778.1:p.Pro1565Ser missense NM_001407850.1:c.4693C>T NP_001394779.1:p.Pro1565Ser missense NM_001407851.1:c.4693C>T NP_001394780.1:p.Pro1565Ser missense NM_001407852.1:c.4693C>T NP_001394781.1:p.Pro1565Ser missense NM_001407853.1:c.4693C>T NP_001394782.1:p.Pro1565Ser missense NM_001407854.1:c.4840C>T NP_001394783.1:p.Pro1614Ser missense NM_001407858.1:c.4837C>T NP_001394787.1:p.Pro1613Ser missense NM_001407859.1:c.4837C>T NP_001394788.1:p.Pro1613Ser missense NM_001407860.1:c.4837C>T NP_001394789.1:p.Pro1613Ser missense NM_001407861.1:c.4834C>T NP_001394790.1:p.Pro1612Ser missense NM_001407862.1:c.4639C>T NP_001394791.1:p.Pro1547Ser missense NM_001407863.1:c.4714C>T NP_001394792.1:p.Pro1572Ser missense NM_001407874.1:c.4633C>T NP_001394803.1:p.Pro1545Ser missense NM_001407875.1:c.4633C>T NP_001394804.1:p.Pro1545Ser missense NM_001407879.1:c.4630C>T NP_001394808.1:p.Pro1544Ser missense NM_001407881.1:c.4630C>T NP_001394810.1:p.Pro1544Ser missense NM_001407882.1:c.4630C>T NP_001394811.1:p.Pro1544Ser missense NM_001407884.1:c.4630C>T NP_001394813.1:p.Pro1544Ser missense NM_001407885.1:c.4630C>T NP_001394814.1:p.Pro1544Ser missense NM_001407886.1:c.4630C>T NP_001394815.1:p.Pro1544Ser missense NM_001407887.1:c.4630C>T NP_001394816.1:p.Pro1544Ser missense NM_001407889.1:c.4630C>T NP_001394818.1:p.Pro1544Ser missense NM_001407894.1:c.4627C>T NP_001394823.1:p.Pro1543Ser missense NM_001407895.1:c.4627C>T NP_001394824.1:p.Pro1543Ser missense NM_001407896.1:c.4627C>T NP_001394825.1:p.Pro1543Ser missense NM_001407897.1:c.4627C>T NP_001394826.1:p.Pro1543Ser missense NM_001407898.1:c.4627C>T NP_001394827.1:p.Pro1543Ser missense NM_001407899.1:c.4627C>T NP_001394828.1:p.Pro1543Ser missense NM_001407900.1:c.4627C>T NP_001394829.1:p.Pro1543Ser missense NM_001407902.1:c.4627C>T NP_001394831.1:p.Pro1543Ser missense NM_001407904.1:c.4627C>T NP_001394833.1:p.Pro1543Ser missense NM_001407906.1:c.4627C>T NP_001394835.1:p.Pro1543Ser missense NM_001407907.1:c.4627C>T NP_001394836.1:p.Pro1543Ser missense NM_001407908.1:c.4627C>T NP_001394837.1:p.Pro1543Ser missense NM_001407909.1:c.4627C>T NP_001394838.1:p.Pro1543Ser missense NM_001407910.1:c.4627C>T NP_001394839.1:p.Pro1543Ser missense NM_001407915.1:c.4624C>T NP_001394844.1:p.Pro1542Ser missense NM_001407916.1:c.4624C>T NP_001394845.1:p.Pro1542Ser missense NM_001407917.1:c.4624C>T NP_001394846.1:p.Pro1542Ser missense NM_001407918.1:c.4624C>T NP_001394847.1:p.Pro1542Ser missense NM_001407919.1:c.4717C>T NP_001394848.1:p.Pro1573Ser missense NM_001407920.1:c.4576C>T NP_001394849.1:p.Pro1526Ser missense NM_001407921.1:c.4576C>T NP_001394850.1:p.Pro1526Ser missense NM_001407922.1:c.4576C>T NP_001394851.1:p.Pro1526Ser missense NM_001407923.1:c.4576C>T NP_001394852.1:p.Pro1526Ser missense NM_001407924.1:c.4576C>T NP_001394853.1:p.Pro1526Ser missense NM_001407925.1:c.4576C>T NP_001394854.1:p.Pro1526Ser missense NM_001407926.1:c.4576C>T NP_001394855.1:p.Pro1526Ser missense NM_001407927.1:c.4573C>T NP_001394856.1:p.Pro1525Ser missense NM_001407928.1:c.4573C>T NP_001394857.1:p.Pro1525Ser missense NM_001407929.1:c.4573C>T NP_001394858.1:p.Pro1525Ser missense NM_001407930.1:c.4573C>T NP_001394859.1:p.Pro1525Ser missense NM_001407931.1:c.4573C>T NP_001394860.1:p.Pro1525Ser missense NM_001407932.1:c.4573C>T NP_001394861.1:p.Pro1525Ser missense NM_001407933.1:c.4573C>T NP_001394862.1:p.Pro1525Ser missense NM_001407934.1:c.4570C>T NP_001394863.1:p.Pro1524Ser missense NM_001407935.1:c.4570C>T NP_001394864.1:p.Pro1524Ser missense NM_001407936.1:c.4570C>T NP_001394865.1:p.Pro1524Ser missense NM_001407937.1:c.4717C>T NP_001394866.1:p.Pro1573Ser missense NM_001407938.1:c.4717C>T NP_001394867.1:p.Pro1573Ser missense NM_001407939.1:c.4714C>T NP_001394868.1:p.Pro1572Ser missense NM_001407940.1:c.4714C>T NP_001394869.1:p.Pro1572Ser missense NM_001407941.1:c.4711C>T NP_001394870.1:p.Pro1571Ser missense NM_001407942.1:c.4699C>T NP_001394871.1:p.Pro1567Ser missense NM_001407943.1:c.4696C>T NP_001394872.1:p.Pro1566Ser missense NM_001407944.1:c.4696C>T NP_001394873.1:p.Pro1566Ser missense NM_001407945.1:c.4696C>T NP_001394874.1:p.Pro1566Ser missense NM_001407946.1:c.4507C>T NP_001394875.1:p.Pro1503Ser missense NM_001407947.1:c.4507C>T NP_001394876.1:p.Pro1503Ser missense NM_001407948.1:c.4507C>T NP_001394877.1:p.Pro1503Ser missense NM_001407949.1:c.4507C>T NP_001394878.1:p.Pro1503Ser missense NM_001407950.1:c.4504C>T NP_001394879.1:p.Pro1502Ser missense NM_001407951.1:c.4504C>T NP_001394880.1:p.Pro1502Ser missense NM_001407952.1:c.4504C>T NP_001394881.1:p.Pro1502Ser missense NM_001407953.1:c.4504C>T NP_001394882.1:p.Pro1502Ser missense NM_001407954.1:c.4504C>T NP_001394883.1:p.Pro1502Ser missense NM_001407955.1:c.4504C>T NP_001394884.1:p.Pro1502Ser missense NM_001407956.1:c.4501C>T NP_001394885.1:p.Pro1501Ser missense NM_001407957.1:c.4501C>T NP_001394886.1:p.Pro1501Ser missense NM_001407958.1:c.4501C>T NP_001394887.1:p.Pro1501Ser missense NM_001407959.1:c.4459C>T NP_001394888.1:p.Pro1487Ser missense NM_001407960.1:c.4456C>T NP_001394889.1:p.Pro1486Ser missense NM_001407962.1:c.4456C>T NP_001394891.1:p.Pro1486Ser missense NM_001407963.1:c.4453C>T NP_001394892.1:p.Pro1485Ser missense NM_001407964.1:c.4378C>T NP_001394893.1:p.Pro1460Ser missense NM_001407965.1:c.4333C>T NP_001394894.1:p.Pro1445Ser missense NM_001407966.1:c.3952C>T NP_001394895.1:p.Pro1318Ser missense NM_001407967.1:c.3949C>T NP_001394896.1:p.Pro1317Ser missense NM_001407968.1:c.2236C>T NP_001394897.1:p.Pro746Ser missense NM_001407969.1:c.2233C>T NP_001394898.1:p.Pro745Ser missense NM_001407970.1:c.1597C>T NP_001394899.1:p.Pro533Ser missense NM_001407971.1:c.1597C>T NP_001394900.1:p.Pro533Ser missense NM_001407972.1:c.1594C>T NP_001394901.1:p.Pro532Ser missense NM_001407973.1:c.1531C>T NP_001394902.1:p.Pro511Ser missense NM_001407974.1:c.1531C>T NP_001394903.1:p.Pro511Ser missense NM_001407975.1:c.1531C>T NP_001394904.1:p.Pro511Ser missense NM_001407976.1:c.1531C>T NP_001394905.1:p.Pro511Ser missense NM_001407977.1:c.1531C>T NP_001394906.1:p.Pro511Ser missense NM_001407978.1:c.1531C>T NP_001394907.1:p.Pro511Ser missense NM_001407979.1:c.1528C>T NP_001394908.1:p.Pro510Ser missense NM_001407980.1:c.1528C>T NP_001394909.1:p.Pro510Ser missense NM_001407981.1:c.1528C>T NP_001394910.1:p.Pro510Ser missense NM_001407982.1:c.1528C>T NP_001394911.1:p.Pro510Ser missense NM_001407983.1:c.1528C>T NP_001394912.1:p.Pro510Ser missense NM_001407984.1:c.1528C>T NP_001394913.1:p.Pro510Ser missense NM_001407985.1:c.1528C>T NP_001394914.1:p.Pro510Ser missense NM_001407986.1:c.1528C>T NP_001394915.1:p.Pro510Ser missense NM_001407990.1:c.1528C>T NP_001394919.1:p.Pro510Ser missense NM_001407991.1:c.1528C>T NP_001394920.1:p.Pro510Ser missense NM_001407992.1:c.1528C>T NP_001394921.1:p.Pro510Ser missense NM_001407993.1:c.1528C>T NP_001394922.1:p.Pro510Ser missense NM_001408392.1:c.1525C>T NP_001395321.1:p.Pro509Ser missense NM_001408396.1:c.1525C>T NP_001395325.1:p.Pro509Ser missense NM_001408397.1:c.1525C>T NP_001395326.1:p.Pro509Ser missense NM_001408398.1:c.1525C>T NP_001395327.1:p.Pro509Ser missense NM_001408399.1:c.1525C>T NP_001395328.1:p.Pro509Ser missense NM_001408400.1:c.1525C>T NP_001395329.1:p.Pro509Ser missense NM_001408401.1:c.1525C>T NP_001395330.1:p.Pro509Ser missense NM_001408402.1:c.1525C>T NP_001395331.1:p.Pro509Ser missense NM_001408403.1:c.1525C>T NP_001395332.1:p.Pro509Ser missense NM_001408404.1:c.1525C>T NP_001395333.1:p.Pro509Ser missense NM_001408406.1:c.1522C>T NP_001395335.1:p.Pro508Ser missense NM_001408407.1:c.1522C>T NP_001395336.1:p.Pro508Ser missense NM_001408408.1:c.1522C>T NP_001395337.1:p.Pro508Ser missense NM_001408409.1:c.1519C>T NP_001395338.1:p.Pro507Ser missense NM_001408410.1:c.1456C>T NP_001395339.1:p.Pro486Ser missense NM_001408411.1:c.1453C>T NP_001395340.1:p.Pro485Ser missense NM_001408412.1:c.1450C>T NP_001395341.1:p.Pro484Ser missense NM_001408413.1:c.1450C>T NP_001395342.1:p.Pro484Ser missense NM_001408414.1:c.1450C>T NP_001395343.1:p.Pro484Ser missense NM_001408415.1:c.1450C>T NP_001395344.1:p.Pro484Ser missense NM_001408416.1:c.1450C>T NP_001395345.1:p.Pro484Ser missense NM_001408418.1:c.1414C>T NP_001395347.1:p.Pro472Ser missense NM_001408419.1:c.1414C>T NP_001395348.1:p.Pro472Ser missense NM_001408420.1:c.1414C>T NP_001395349.1:p.Pro472Ser missense NM_001408421.1:c.1411C>T NP_001395350.1:p.Pro471Ser missense NM_001408422.1:c.1411C>T NP_001395351.1:p.Pro471Ser missense NM_001408423.1:c.1411C>T NP_001395352.1:p.Pro471Ser missense NM_001408424.1:c.1411C>T NP_001395353.1:p.Pro471Ser missense NM_001408425.1:c.1408C>T NP_001395354.1:p.Pro470Ser missense NM_001408426.1:c.1408C>T NP_001395355.1:p.Pro470Ser missense NM_001408427.1:c.1408C>T NP_001395356.1:p.Pro470Ser missense NM_001408428.1:c.1408C>T NP_001395357.1:p.Pro470Ser missense NM_001408429.1:c.1408C>T NP_001395358.1:p.Pro470Ser missense NM_001408430.1:c.1408C>T NP_001395359.1:p.Pro470Ser missense NM_001408431.1:c.1408C>T NP_001395360.1:p.Pro470Ser missense NM_001408432.1:c.1405C>T NP_001395361.1:p.Pro469Ser missense NM_001408433.1:c.1405C>T NP_001395362.1:p.Pro469Ser missense NM_001408434.1:c.1405C>T NP_001395363.1:p.Pro469Ser missense NM_001408435.1:c.1405C>T NP_001395364.1:p.Pro469Ser missense NM_001408436.1:c.1405C>T NP_001395365.1:p.Pro469Ser missense NM_001408437.1:c.1405C>T NP_001395366.1:p.Pro469Ser missense NM_001408438.1:c.1405C>T NP_001395367.1:p.Pro469Ser missense NM_001408439.1:c.1405C>T NP_001395368.1:p.Pro469Ser missense NM_001408440.1:c.1405C>T NP_001395369.1:p.Pro469Ser missense NM_001408441.1:c.1405C>T NP_001395370.1:p.Pro469Ser missense NM_001408442.1:c.1405C>T NP_001395371.1:p.Pro469Ser missense NM_001408443.1:c.1405C>T NP_001395372.1:p.Pro469Ser missense NM_001408444.1:c.1405C>T NP_001395373.1:p.Pro469Ser missense NM_001408445.1:c.1402C>T NP_001395374.1:p.Pro468Ser missense NM_001408446.1:c.1402C>T NP_001395375.1:p.Pro468Ser missense NM_001408447.1:c.1402C>T NP_001395376.1:p.Pro468Ser missense NM_001408448.1:c.1402C>T NP_001395377.1:p.Pro468Ser missense NM_001408450.1:c.1402C>T NP_001395379.1:p.Pro468Ser missense NM_001408451.1:c.1396C>T NP_001395380.1:p.Pro466Ser missense NM_001408452.1:c.1390C>T NP_001395381.1:p.Pro464Ser missense NM_001408453.1:c.1390C>T NP_001395382.1:p.Pro464Ser missense NM_001408454.1:c.1390C>T NP_001395383.1:p.Pro464Ser missense NM_001408455.1:c.1390C>T NP_001395384.1:p.Pro464Ser missense NM_001408456.1:c.1390C>T NP_001395385.1:p.Pro464Ser missense NM_001408457.1:c.1390C>T NP_001395386.1:p.Pro464Ser missense NM_001408458.1:c.1387C>T NP_001395387.1:p.Pro463Ser missense NM_001408459.1:c.1387C>T NP_001395388.1:p.Pro463Ser missense NM_001408460.1:c.1387C>T NP_001395389.1:p.Pro463Ser missense NM_001408461.1:c.1387C>T NP_001395390.1:p.Pro463Ser missense NM_001408462.1:c.1387C>T NP_001395391.1:p.Pro463Ser missense NM_001408463.1:c.1387C>T NP_001395392.1:p.Pro463Ser missense NM_001408464.1:c.1387C>T NP_001395393.1:p.Pro463Ser missense NM_001408465.1:c.1387C>T NP_001395394.1:p.Pro463Ser missense NM_001408466.1:c.1387C>T NP_001395395.1:p.Pro463Ser missense NM_001408467.1:c.1387C>T NP_001395396.1:p.Pro463Ser missense NM_001408468.1:c.1384C>T NP_001395397.1:p.Pro462Ser missense NM_001408469.1:c.1384C>T NP_001395398.1:p.Pro462Ser missense NM_001408470.1:c.1384C>T NP_001395399.1:p.Pro462Ser missense NM_001408472.1:c.1528C>T NP_001395401.1:p.Pro510Ser missense NM_001408473.1:c.1525C>T NP_001395402.1:p.Pro509Ser missense NM_001408474.1:c.1330C>T NP_001395403.1:p.Pro444Ser missense NM_001408475.1:c.1327C>T NP_001395404.1:p.Pro443Ser missense NM_001408476.1:c.1327C>T NP_001395405.1:p.Pro443Ser missense NM_001408478.1:c.1321C>T NP_001395407.1:p.Pro441Ser missense NM_001408479.1:c.1321C>T NP_001395408.1:p.Pro441Ser missense NM_001408480.1:c.1321C>T NP_001395409.1:p.Pro441Ser missense NM_001408481.1:c.1318C>T NP_001395410.1:p.Pro440Ser missense NM_001408482.1:c.1318C>T NP_001395411.1:p.Pro440Ser missense NM_001408483.1:c.1318C>T NP_001395412.1:p.Pro440Ser missense NM_001408484.1:c.1318C>T NP_001395413.1:p.Pro440Ser missense NM_001408485.1:c.1318C>T NP_001395414.1:p.Pro440Ser missense NM_001408489.1:c.1318C>T NP_001395418.1:p.Pro440Ser missense NM_001408490.1:c.1318C>T NP_001395419.1:p.Pro440Ser missense NM_001408491.1:c.1318C>T NP_001395420.1:p.Pro440Ser missense NM_001408492.1:c.1315C>T NP_001395421.1:p.Pro439Ser missense NM_001408493.1:c.1315C>T NP_001395422.1:p.Pro439Ser missense NM_001408494.1:c.1291C>T NP_001395423.1:p.Pro431Ser missense NM_001408495.1:c.1285C>T NP_001395424.1:p.Pro429Ser missense NM_001408496.1:c.1267C>T NP_001395425.1:p.Pro423Ser missense NM_001408497.1:c.1267C>T NP_001395426.1:p.Pro423Ser missense NM_001408498.1:c.1267C>T NP_001395427.1:p.Pro423Ser missense NM_001408499.1:c.1267C>T NP_001395428.1:p.Pro423Ser missense NM_001408500.1:c.1267C>T NP_001395429.1:p.Pro423Ser missense NM_001408501.1:c.1267C>T NP_001395430.1:p.Pro423Ser missense NM_001408502.1:c.1264C>T NP_001395431.1:p.Pro422Ser missense NM_001408503.1:c.1264C>T NP_001395432.1:p.Pro422Ser missense NM_001408504.1:c.1264C>T NP_001395433.1:p.Pro422Ser missense NM_001408505.1:c.1261C>T NP_001395434.1:p.Pro421Ser missense NM_001408506.1:c.1204C>T NP_001395435.1:p.Pro402Ser missense NM_001408507.1:c.1201C>T NP_001395436.1:p.Pro401Ser missense NM_001408508.1:c.1192C>T NP_001395437.1:p.Pro398Ser missense NM_001408509.1:c.1189C>T NP_001395438.1:p.Pro397Ser missense NM_001408510.1:c.1150C>T NP_001395439.1:p.Pro384Ser missense NM_001408511.1:c.1147C>T NP_001395440.1:p.Pro383Ser missense NM_001408512.1:c.1027C>T NP_001395441.1:p.Pro343Ser missense NM_001408513.1:c.1000C>T NP_001395442.1:p.Pro334Ser missense NM_007297.4:c.4699C>T NP_009228.2:p.Pro1567Ser missense NM_007298.4:c.1528C>T NP_009229.2:p.Pro510Ser missense NM_007299.4:c.1528C>T NP_009230.2:p.Pro510Ser missense NM_007300.4:c.4903C>T NP_009231.2:p.Pro1635Ser missense NM_007304.2:c.1528C>T NP_009235.2:p.Pro510Ser missense NR_027676.2:n.5017C>T non-coding transcript variant NC_000017.11:g.43071074G>A NC_000017.10:g.41223091G>A NG_005905.2:g.146910C>T LRG_292:g.146910C>T LRG_292t1:c.4840C>T LRG_292p1:p.Pro1614Ser U14680.1:n.4959C>T - Protein change
- P1614S, P1635S, P1567S, P510S, P1318S, P1460S, P1524S, P1526S, P1543S, P1544S, P1573S, P1609S, P1612S, P1613S, P1636S, P401S, P421S, P423S, P470S, P472S, P508S, P1501S, P1525S, P1542S, P1547S, P1565S, P1571S, P1572S, P1587S, P1588S, P1595S, P1610S, P343S, P429S, P471S, P484S, P486S, P509S, P511S, P746S, P1485S, P1486S, P1503S, P1586S, P1594S, P1634S, P383S, P384S, P397S, P422S, P431S, P439S, P441S, P443S, P464S, P469S, P485S, P507S, P532S, P533S, P745S, P1317S, P1445S, P1487S, P1502S, P1545S, P1566S, P1570S, P1611S, P334S, P398S, P402S, P440S, P444S, P462S, P463S, P466S, P468S
- Other names
- p.P1614S:CCA>TCA
- 4959C>T
- NP_009225.1:p.Pro1614Ser
- Canonical SPDI
- NC_000017.11:43071073:G:A
-
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.
-
0.00040 (A)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD), exomes 0.00019
Exome Aggregation Consortium (ExAC) 0.00021
1000 Genomes Project 0.00040
1000 Genomes Project 30x 0.00047
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00054
The Genome Aggregation Database (gnomAD) 0.00065
Trans-Omics for Precision Medicine (TOPMed) 0.00071
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 |
12876 | 14661 |
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. |
---|---|---|---|---|
Benign/Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
Aug 17, 2020 | RCV000048676.19 | |
Benign (2) |
reviewed by expert panel
|
Aug 10, 2015 | RCV000112411.11 | |
Benign (3) |
criteria provided, multiple submitters, no conflicts
|
Apr 8, 2021 | RCV000162988.13 | |
Benign/Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
Jan 12, 2024 | RCV000167771.24 | |
Benign (1) |
criteria provided, single submitter
|
Mar 24, 2021 | RCV001811342.13 | |
Likely benign (1) |
criteria provided, single submitter
|
Aug 8, 2022 | RCV003492390.1 |
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. |
|
---|---|---|---|---|---|
Benign
(Aug 10, 2015)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000244370.1
First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
Comment:
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on … (more)
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.0000000000703 (less)
|
|
Benign
(Aug 04, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000209978.10
First in ClinVar: Feb 24, 2015 Last updated: Mar 29, 2015 |
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
|
|
Benign
(Nov 22, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV000806962.1
First in ClinVar: Mar 29, 2015 Last updated: Mar 29, 2015 |
|
|
Benign
(Dec 08, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000902788.1
First in ClinVar: May 20, 2019 Last updated: May 20, 2019 |
|
|
Benign
(Mar 24, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001472381.2
First in ClinVar: Jan 26, 2021 Last updated: Jan 08, 2022 |
|
|
Likely benign
(Aug 17, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: no
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV002067647.1
First in ClinVar: Jan 29, 2022 Last updated: Jan 29, 2022 |
|
|
Likely benign
(Apr 19, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State
Accession: SCV002025925.2
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Number of individuals with the variant: 5
Geographic origin: South Africa
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Likely benign
(Nov 01, 2021)
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criteria provided, single submitter
Method: research
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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Genetics Program, Instituto Nacional de Cancer
Accession: SCV002515218.1
First in ClinVar: Nov 19, 2022 Last updated: Nov 19, 2022 |
Geographic origin: Brazil
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Benign
(Apr 08, 2021)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Sema4, Sema4
Accession: SCV002537792.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
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Likely benign
(Aug 08, 2022)
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criteria provided, single submitter
Method: clinical testing
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Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV004240272.1
First in ClinVar: Feb 04, 2024 Last updated: Feb 04, 2024 |
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Benign
(Jan 12, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000076689.15
First in ClinVar: Jul 03, 2013 Last updated: Feb 14, 2024 |
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Benign
(Nov 18, 2014)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000213476.6
First in ClinVar: Mar 24, 2015 Last updated: May 01, 2024 |
Comment:
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation … (more)
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
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Benign
(Feb 20, 2004)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145195.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 3
Observation 2:
Number of individuals with the variant: 6
Ethnicity/Population group: African
Observation 3:
Number of individuals with the variant: 1
Ethnicity/Population group: African, African American
Observation 4:
Number of individuals with the variant: 1
Ethnicity/Population group: African, Latin American, Caribbean
Observation 5:
Number of individuals with the variant: 1
Ethnicity/Population group: Latin American, Caribbean, Hispanic
Observation 6:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
Observation 7:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, African, Native American
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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
HelpTitle | Author | Journal | Year | Link |
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Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service. | Matta BP | Scientific reports | 2022 | PMID: 36329109 |
Prevalence of Clinically Relevant Germline BRCA Variants in a Large Unselected South African Breast and Ovarian Cancer Cohort: A Public Sector Experience. | Van der Merwe NC | Frontiers in genetics | 2022 | DOI: 10.3389/fgene.2022.834265 |
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). | Lindor NM | Human mutation | 2012 | PMID: 21990134 |
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. | Easton DF | American journal of human genetics | 2007 | PMID: 17924331 |
Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. | Carvalho MA | Cancer research | 2007 | PMID: 17308087 |
http://hci-exlovd.hci.utah.edu/variants.php?select_db=BRCA1&action=search_all&search_Variant%2FDNA=c.4840C%3ET | - | - | - | - |
Text-mined citations for rs70953660 ...
HelpRecord last updated May 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.