ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5191G>T (p.Glu1731Ter)
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.5191G>T (p.Glu1731Ter)
Variation ID: 37646 Accession: VCV000037646.13
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43063335 (GRCh38) [ NCBI UCSC ] 17: 41215352 (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 Nov 13, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5191G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu1731Ter nonsense NM_001407571.1:c.4978G>T NP_001394500.1:p.Glu1660Ter nonsense NM_001407581.1:c.5257G>T NP_001394510.1:p.Glu1753Ter nonsense NM_001407582.1:c.5257G>T NP_001394511.1:p.Glu1753Ter nonsense NM_001407583.1:c.5254G>T NP_001394512.1:p.Glu1752Ter nonsense NM_001407585.1:c.5254G>T NP_001394514.1:p.Glu1752Ter nonsense NM_001407587.1:c.5254G>T NP_001394516.1:p.Glu1752Ter nonsense NM_001407590.1:c.5251G>T NP_001394519.1:p.Glu1751Ter nonsense NM_001407591.1:c.5251G>T NP_001394520.1:p.Glu1751Ter nonsense NM_001407593.1:c.5191G>T NP_001394522.1:p.Glu1731Ter nonsense NM_001407594.1:c.5191G>T NP_001394523.1:p.Glu1731Ter nonsense NM_001407596.1:c.5191G>T NP_001394525.1:p.Glu1731Ter nonsense NM_001407597.1:c.5191G>T NP_001394526.1:p.Glu1731Ter nonsense NM_001407598.1:c.5191G>T NP_001394527.1:p.Glu1731Ter nonsense NM_001407602.1:c.5191G>T NP_001394531.1:p.Glu1731Ter nonsense NM_001407603.1:c.5191G>T NP_001394532.1:p.Glu1731Ter nonsense NM_001407605.1:c.5191G>T NP_001394534.1:p.Glu1731Ter nonsense NM_001407610.1:c.5188G>T NP_001394539.1:p.Glu1730Ter nonsense NM_001407611.1:c.5188G>T NP_001394540.1:p.Glu1730Ter nonsense NM_001407612.1:c.5188G>T NP_001394541.1:p.Glu1730Ter nonsense NM_001407613.1:c.5188G>T NP_001394542.1:p.Glu1730Ter nonsense NM_001407614.1:c.5188G>T NP_001394543.1:p.Glu1730Ter nonsense NM_001407615.1:c.5188G>T NP_001394544.1:p.Glu1730Ter nonsense NM_001407616.1:c.5188G>T NP_001394545.1:p.Glu1730Ter nonsense NM_001407617.1:c.5188G>T NP_001394546.1:p.Glu1730Ter nonsense NM_001407618.1:c.5188G>T NP_001394547.1:p.Glu1730Ter nonsense NM_001407619.1:c.5188G>T NP_001394548.1:p.Glu1730Ter nonsense NM_001407620.1:c.5188G>T NP_001394549.1:p.Glu1730Ter nonsense NM_001407621.1:c.5188G>T NP_001394550.1:p.Glu1730Ter nonsense NM_001407622.1:c.5188G>T NP_001394551.1:p.Glu1730Ter nonsense NM_001407623.1:c.5188G>T NP_001394552.1:p.Glu1730Ter nonsense NM_001407624.1:c.5188G>T NP_001394553.1:p.Glu1730Ter nonsense NM_001407625.1:c.5188G>T NP_001394554.1:p.Glu1730Ter nonsense NM_001407626.1:c.5188G>T NP_001394555.1:p.Glu1730Ter nonsense NM_001407627.1:c.5185G>T NP_001394556.1:p.Glu1729Ter nonsense NM_001407628.1:c.5185G>T NP_001394557.1:p.Glu1729Ter nonsense NM_001407629.1:c.5185G>T NP_001394558.1:p.Glu1729Ter nonsense NM_001407630.1:c.5185G>T NP_001394559.1:p.Glu1729Ter nonsense NM_001407631.1:c.5185G>T NP_001394560.1:p.Glu1729Ter nonsense NM_001407632.1:c.5185G>T NP_001394561.1:p.Glu1729Ter nonsense NM_001407633.1:c.5185G>T NP_001394562.1:p.Glu1729Ter nonsense NM_001407634.1:c.5185G>T NP_001394563.1:p.Glu1729Ter nonsense NM_001407635.1:c.5185G>T NP_001394564.1:p.Glu1729Ter nonsense NM_001407636.1:c.5185G>T NP_001394565.1:p.Glu1729Ter nonsense NM_001407637.1:c.5185G>T NP_001394566.1:p.Glu1729Ter nonsense NM_001407638.1:c.5185G>T NP_001394567.1:p.Glu1729Ter nonsense NM_001407639.1:c.5185G>T NP_001394568.1:p.Glu1729Ter nonsense NM_001407640.1:c.5185G>T NP_001394569.1:p.Glu1729Ter nonsense NM_001407641.1:c.5185G>T NP_001394570.1:p.Glu1729Ter nonsense NM_001407642.1:c.5185G>T NP_001394571.1:p.Glu1729Ter nonsense NM_001407644.1:c.5182G>T NP_001394573.1:p.Glu1728Ter nonsense NM_001407645.1:c.5182G>T NP_001394574.1:p.Glu1728Ter nonsense NM_001407646.1:c.5179G>T NP_001394575.1:p.Glu1727Ter nonsense NM_001407647.1:c.5176G>T NP_001394576.1:p.Glu1726Ter nonsense NM_001407648.1:c.5134G>T NP_001394577.1:p.Glu1712Ter nonsense NM_001407649.1:c.5131G>T NP_001394578.1:p.Glu1711Ter nonsense NM_001407652.1:c.5113G>T NP_001394581.1:p.Glu1705Ter nonsense NM_001407653.1:c.5113G>T NP_001394582.1:p.Glu1705Ter nonsense NM_001407654.1:c.5113G>T NP_001394583.1:p.Glu1705Ter nonsense NM_001407655.1:c.5113G>T NP_001394584.1:p.Glu1705Ter nonsense NM_001407656.1:c.5110G>T NP_001394585.1:p.Glu1704Ter nonsense NM_001407657.1:c.5110G>T NP_001394586.1:p.Glu1704Ter nonsense NM_001407658.1:c.5110G>T NP_001394587.1:p.Glu1704Ter nonsense NM_001407659.1:c.5107G>T NP_001394588.1:p.Glu1703Ter nonsense NM_001407660.1:c.5107G>T NP_001394589.1:p.Glu1703Ter nonsense NM_001407661.1:c.5107G>T NP_001394590.1:p.Glu1703Ter nonsense NM_001407662.1:c.5107G>T NP_001394591.1:p.Glu1703Ter nonsense NM_001407663.1:c.5107G>T NP_001394592.1:p.Glu1703Ter nonsense NM_001407664.1:c.5068G>T NP_001394593.1:p.Glu1690Ter nonsense NM_001407665.1:c.5068G>T NP_001394594.1:p.Glu1690Ter nonsense NM_001407666.1:c.5068G>T NP_001394595.1:p.Glu1690Ter nonsense NM_001407667.1:c.5068G>T NP_001394596.1:p.Glu1690Ter nonsense NM_001407668.1:c.5068G>T NP_001394597.1:p.Glu1690Ter nonsense NM_001407669.1:c.5068G>T NP_001394598.1:p.Glu1690Ter nonsense NM_001407670.1:c.5065G>T NP_001394599.1:p.Glu1689Ter nonsense NM_001407671.1:c.5065G>T NP_001394600.1:p.Glu1689Ter nonsense NM_001407672.1:c.5065G>T NP_001394601.1:p.Glu1689Ter nonsense NM_001407673.1:c.5065G>T NP_001394602.1:p.Glu1689Ter nonsense NM_001407674.1:c.5065G>T NP_001394603.1:p.Glu1689Ter nonsense NM_001407675.1:c.5065G>T NP_001394604.1:p.Glu1689Ter nonsense NM_001407676.1:c.5065G>T NP_001394605.1:p.Glu1689Ter nonsense NM_001407677.1:c.5065G>T NP_001394606.1:p.Glu1689Ter nonsense NM_001407678.1:c.5065G>T NP_001394607.1:p.Glu1689Ter nonsense NM_001407679.1:c.5065G>T NP_001394608.1:p.Glu1689Ter nonsense NM_001407680.1:c.5065G>T NP_001394609.1:p.Glu1689Ter nonsense NM_001407681.1:c.5062G>T NP_001394610.1:p.Glu1688Ter nonsense NM_001407682.1:c.5062G>T NP_001394611.1:p.Glu1688Ter nonsense NM_001407683.1:c.5062G>T NP_001394612.1:p.Glu1688Ter nonsense NM_001407684.1:c.5191G>T NP_001394613.1:p.Glu1731Ter nonsense NM_001407685.1:c.5062G>T NP_001394614.1:p.Glu1688Ter nonsense NM_001407686.1:c.5062G>T NP_001394615.1:p.Glu1688Ter nonsense NM_001407687.1:c.5062G>T NP_001394616.1:p.Glu1688Ter nonsense NM_001407688.1:c.5062G>T NP_001394617.1:p.Glu1688Ter nonsense NM_001407689.1:c.5062G>T NP_001394618.1:p.Glu1688Ter nonsense NM_001407690.1:c.5059G>T NP_001394619.1:p.Glu1687Ter nonsense NM_001407691.1:c.5059G>T NP_001394620.1:p.Glu1687Ter nonsense NM_001407692.1:c.5050G>T NP_001394621.1:p.Glu1684Ter nonsense NM_001407694.1:c.5050G>T NP_001394623.1:p.Glu1684Ter nonsense NM_001407695.1:c.5050G>T NP_001394624.1:p.Glu1684Ter nonsense NM_001407696.1:c.5050G>T NP_001394625.1:p.Glu1684Ter nonsense NM_001407697.1:c.5050G>T NP_001394626.1:p.Glu1684Ter nonsense NM_001407698.1:c.5050G>T NP_001394627.1:p.Glu1684Ter nonsense NM_001407724.1:c.5050G>T NP_001394653.1:p.Glu1684Ter nonsense NM_001407725.1:c.5050G>T NP_001394654.1:p.Glu1684Ter nonsense NM_001407726.1:c.5050G>T NP_001394655.1:p.Glu1684Ter nonsense NM_001407727.1:c.5050G>T NP_001394656.1:p.Glu1684Ter nonsense NM_001407728.1:c.5050G>T NP_001394657.1:p.Glu1684Ter nonsense NM_001407729.1:c.5050G>T NP_001394658.1:p.Glu1684Ter nonsense NM_001407730.1:c.5050G>T NP_001394659.1:p.Glu1684Ter nonsense NM_001407731.1:c.5050G>T NP_001394660.1:p.Glu1684Ter nonsense NM_001407732.1:c.5047G>T NP_001394661.1:p.Glu1683Ter nonsense NM_001407733.1:c.5047G>T NP_001394662.1:p.Glu1683Ter nonsense NM_001407734.1:c.5047G>T NP_001394663.1:p.Glu1683Ter nonsense NM_001407735.1:c.5047G>T NP_001394664.1:p.Glu1683Ter nonsense NM_001407736.1:c.5047G>T NP_001394665.1:p.Glu1683Ter nonsense NM_001407737.1:c.5047G>T NP_001394666.1:p.Glu1683Ter nonsense NM_001407738.1:c.5047G>T NP_001394667.1:p.Glu1683Ter nonsense NM_001407739.1:c.5047G>T NP_001394668.1:p.Glu1683Ter nonsense NM_001407740.1:c.5047G>T NP_001394669.1:p.Glu1683Ter nonsense NM_001407741.1:c.5047G>T NP_001394670.1:p.Glu1683Ter nonsense NM_001407742.1:c.5047G>T NP_001394671.1:p.Glu1683Ter nonsense NM_001407743.1:c.5047G>T NP_001394672.1:p.Glu1683Ter nonsense NM_001407744.1:c.5047G>T NP_001394673.1:p.Glu1683Ter nonsense NM_001407745.1:c.5047G>T NP_001394674.1:p.Glu1683Ter nonsense NM_001407746.1:c.5047G>T NP_001394675.1:p.Glu1683Ter nonsense NM_001407747.1:c.5047G>T NP_001394676.1:p.Glu1683Ter nonsense NM_001407748.1:c.5047G>T NP_001394677.1:p.Glu1683Ter nonsense NM_001407749.1:c.5047G>T NP_001394678.1:p.Glu1683Ter nonsense NM_001407750.1:c.5047G>T NP_001394679.1:p.Glu1683Ter nonsense NM_001407751.1:c.5047G>T NP_001394680.1:p.Glu1683Ter nonsense NM_001407752.1:c.5047G>T NP_001394681.1:p.Glu1683Ter nonsense NM_001407838.1:c.5044G>T NP_001394767.1:p.Glu1682Ter nonsense NM_001407839.1:c.5044G>T NP_001394768.1:p.Glu1682Ter nonsense NM_001407841.1:c.5044G>T NP_001394770.1:p.Glu1682Ter nonsense NM_001407842.1:c.5044G>T NP_001394771.1:p.Glu1682Ter nonsense NM_001407843.1:c.5044G>T NP_001394772.1:p.Glu1682Ter nonsense NM_001407844.1:c.5044G>T NP_001394773.1:p.Glu1682Ter nonsense NM_001407845.1:c.5044G>T NP_001394774.1:p.Glu1682Ter nonsense NM_001407846.1:c.5044G>T NP_001394775.1:p.Glu1682Ter nonsense NM_001407847.1:c.5044G>T NP_001394776.1:p.Glu1682Ter nonsense NM_001407848.1:c.5044G>T NP_001394777.1:p.Glu1682Ter nonsense NM_001407849.1:c.5044G>T NP_001394778.1:p.Glu1682Ter nonsense NM_001407850.1:c.5044G>T NP_001394779.1:p.Glu1682Ter nonsense NM_001407851.1:c.5044G>T NP_001394780.1:p.Glu1682Ter nonsense NM_001407852.1:c.5044G>T NP_001394781.1:p.Glu1682Ter nonsense NM_001407853.1:c.5044G>T NP_001394782.1:p.Glu1682Ter nonsense NM_001407854.1:c.5191G>T NP_001394783.1:p.Glu1731Ter nonsense NM_001407858.1:c.5188G>T NP_001394787.1:p.Glu1730Ter nonsense NM_001407859.1:c.5188G>T NP_001394788.1:p.Glu1730Ter nonsense NM_001407860.1:c.5188G>T NP_001394789.1:p.Glu1730Ter nonsense NM_001407861.1:c.5185G>T NP_001394790.1:p.Glu1729Ter nonsense NM_001407862.1:c.4990G>T NP_001394791.1:p.Glu1664Ter nonsense NM_001407863.1:c.4987G>T NP_001394792.1:p.Glu1663Ter nonsense NM_001407874.1:c.4984G>T NP_001394803.1:p.Glu1662Ter nonsense NM_001407875.1:c.4984G>T NP_001394804.1:p.Glu1662Ter nonsense NM_001407879.1:c.4981G>T NP_001394808.1:p.Glu1661Ter nonsense NM_001407881.1:c.4981G>T NP_001394810.1:p.Glu1661Ter nonsense NM_001407882.1:c.4981G>T NP_001394811.1:p.Glu1661Ter nonsense NM_001407884.1:c.4981G>T NP_001394813.1:p.Glu1661Ter nonsense NM_001407885.1:c.4981G>T NP_001394814.1:p.Glu1661Ter nonsense NM_001407886.1:c.4981G>T NP_001394815.1:p.Glu1661Ter nonsense NM_001407887.1:c.4981G>T NP_001394816.1:p.Glu1661Ter nonsense NM_001407889.1:c.4981G>T NP_001394818.1:p.Glu1661Ter nonsense NM_001407894.1:c.4978G>T NP_001394823.1:p.Glu1660Ter nonsense NM_001407895.1:c.4978G>T NP_001394824.1:p.Glu1660Ter nonsense NM_001407896.1:c.4978G>T NP_001394825.1:p.Glu1660Ter nonsense NM_001407897.1:c.4978G>T NP_001394826.1:p.Glu1660Ter nonsense NM_001407898.1:c.4978G>T NP_001394827.1:p.Glu1660Ter nonsense NM_001407899.1:c.4978G>T NP_001394828.1:p.Glu1660Ter nonsense NM_001407900.1:c.4978G>T NP_001394829.1:p.Glu1660Ter nonsense NM_001407902.1:c.4978G>T NP_001394831.1:p.Glu1660Ter nonsense NM_001407904.1:c.4978G>T NP_001394833.1:p.Glu1660Ter nonsense NM_001407906.1:c.4978G>T NP_001394835.1:p.Glu1660Ter nonsense NM_001407907.1:c.4978G>T NP_001394836.1:p.Glu1660Ter nonsense NM_001407908.1:c.4978G>T NP_001394837.1:p.Glu1660Ter nonsense NM_001407909.1:c.4978G>T NP_001394838.1:p.Glu1660Ter nonsense NM_001407910.1:c.4978G>T NP_001394839.1:p.Glu1660Ter nonsense NM_001407915.1:c.4975G>T NP_001394844.1:p.Glu1659Ter nonsense NM_001407916.1:c.4975G>T NP_001394845.1:p.Glu1659Ter nonsense NM_001407917.1:c.4975G>T NP_001394846.1:p.Glu1659Ter nonsense NM_001407918.1:c.4975G>T NP_001394847.1:p.Glu1659Ter nonsense NM_001407919.1:c.5068G>T NP_001394848.1:p.Glu1690Ter nonsense NM_001407920.1:c.4927G>T NP_001394849.1:p.Glu1643Ter nonsense NM_001407921.1:c.4927G>T NP_001394850.1:p.Glu1643Ter nonsense NM_001407922.1:c.4927G>T NP_001394851.1:p.Glu1643Ter nonsense NM_001407923.1:c.4927G>T NP_001394852.1:p.Glu1643Ter nonsense NM_001407924.1:c.4927G>T NP_001394853.1:p.Glu1643Ter nonsense NM_001407925.1:c.4927G>T NP_001394854.1:p.Glu1643Ter nonsense NM_001407926.1:c.4927G>T NP_001394855.1:p.Glu1643Ter nonsense NM_001407927.1:c.4924G>T NP_001394856.1:p.Glu1642Ter nonsense NM_001407928.1:c.4924G>T NP_001394857.1:p.Glu1642Ter nonsense NM_001407929.1:c.4924G>T NP_001394858.1:p.Glu1642Ter nonsense NM_001407930.1:c.4924G>T NP_001394859.1:p.Glu1642Ter nonsense NM_001407931.1:c.4924G>T NP_001394860.1:p.Glu1642Ter nonsense NM_001407932.1:c.4924G>T NP_001394861.1:p.Glu1642Ter nonsense NM_001407933.1:c.4924G>T NP_001394862.1:p.Glu1642Ter nonsense NM_001407934.1:c.4921G>T NP_001394863.1:p.Glu1641Ter nonsense NM_001407935.1:c.4921G>T NP_001394864.1:p.Glu1641Ter nonsense NM_001407936.1:c.4921G>T NP_001394865.1:p.Glu1641Ter nonsense NM_001407937.1:c.5068G>T NP_001394866.1:p.Glu1690Ter nonsense NM_001407938.1:c.5068G>T NP_001394867.1:p.Glu1690Ter nonsense NM_001407939.1:c.5065G>T NP_001394868.1:p.Glu1689Ter nonsense NM_001407940.1:c.5065G>T NP_001394869.1:p.Glu1689Ter nonsense NM_001407941.1:c.5062G>T NP_001394870.1:p.Glu1688Ter nonsense NM_001407942.1:c.5050G>T NP_001394871.1:p.Glu1684Ter nonsense NM_001407943.1:c.5047G>T NP_001394872.1:p.Glu1683Ter nonsense NM_001407944.1:c.5047G>T NP_001394873.1:p.Glu1683Ter nonsense NM_001407945.1:c.5047G>T NP_001394874.1:p.Glu1683Ter nonsense NM_001407946.1:c.4858G>T NP_001394875.1:p.Glu1620Ter nonsense NM_001407947.1:c.4858G>T NP_001394876.1:p.Glu1620Ter nonsense NM_001407948.1:c.4858G>T NP_001394877.1:p.Glu1620Ter nonsense NM_001407949.1:c.4858G>T NP_001394878.1:p.Glu1620Ter nonsense NM_001407950.1:c.4855G>T NP_001394879.1:p.Glu1619Ter nonsense NM_001407951.1:c.4855G>T NP_001394880.1:p.Glu1619Ter nonsense NM_001407952.1:c.4855G>T NP_001394881.1:p.Glu1619Ter nonsense NM_001407953.1:c.4855G>T NP_001394882.1:p.Glu1619Ter nonsense NM_001407954.1:c.4855G>T NP_001394883.1:p.Glu1619Ter nonsense NM_001407955.1:c.4855G>T NP_001394884.1:p.Glu1619Ter nonsense NM_001407956.1:c.4852G>T NP_001394885.1:p.Glu1618Ter nonsense NM_001407957.1:c.4852G>T NP_001394886.1:p.Glu1618Ter nonsense NM_001407958.1:c.4852G>T NP_001394887.1:p.Glu1618Ter nonsense NM_001407959.1:c.4810G>T NP_001394888.1:p.Glu1604Ter nonsense NM_001407960.1:c.4807G>T NP_001394889.1:p.Glu1603Ter nonsense NM_001407962.1:c.4807G>T NP_001394891.1:p.Glu1603Ter nonsense NM_001407963.1:c.4804G>T NP_001394892.1:p.Glu1602Ter nonsense NM_001407964.1:c.4729G>T NP_001394893.1:p.Glu1577Ter nonsense NM_001407965.1:c.4684G>T NP_001394894.1:p.Glu1562Ter nonsense NM_001407966.1:c.4303G>T NP_001394895.1:p.Glu1435Ter nonsense NM_001407967.1:c.4300G>T NP_001394896.1:p.Glu1434Ter nonsense NM_001407968.1:c.2587G>T NP_001394897.1:p.Glu863Ter nonsense NM_001407969.1:c.2584G>T NP_001394898.1:p.Glu862Ter nonsense NM_001407970.1:c.1948G>T NP_001394899.1:p.Glu650Ter nonsense NM_001407971.1:c.1948G>T NP_001394900.1:p.Glu650Ter nonsense NM_001407972.1:c.1945G>T NP_001394901.1:p.Glu649Ter nonsense NM_001407973.1:c.1882G>T NP_001394902.1:p.Glu628Ter nonsense NM_001407974.1:c.1882G>T NP_001394903.1:p.Glu628Ter nonsense NM_001407975.1:c.1882G>T NP_001394904.1:p.Glu628Ter nonsense NM_001407976.1:c.1882G>T NP_001394905.1:p.Glu628Ter nonsense NM_001407977.1:c.1882G>T NP_001394906.1:p.Glu628Ter nonsense NM_001407978.1:c.1882G>T NP_001394907.1:p.Glu628Ter nonsense NM_001407979.1:c.1879G>T NP_001394908.1:p.Glu627Ter nonsense NM_001407980.1:c.1879G>T NP_001394909.1:p.Glu627Ter nonsense NM_001407981.1:c.1879G>T NP_001394910.1:p.Glu627Ter nonsense NM_001407982.1:c.1879G>T NP_001394911.1:p.Glu627Ter nonsense NM_001407983.1:c.1879G>T NP_001394912.1:p.Glu627Ter nonsense NM_001407984.1:c.1879G>T NP_001394913.1:p.Glu627Ter nonsense NM_001407985.1:c.1879G>T NP_001394914.1:p.Glu627Ter nonsense NM_001407986.1:c.1879G>T NP_001394915.1:p.Glu627Ter nonsense NM_001407990.1:c.1879G>T NP_001394919.1:p.Glu627Ter nonsense NM_001407991.1:c.1879G>T NP_001394920.1:p.Glu627Ter nonsense NM_001407992.1:c.1879G>T NP_001394921.1:p.Glu627Ter nonsense NM_001407993.1:c.1879G>T NP_001394922.1:p.Glu627Ter nonsense NM_001408392.1:c.1876G>T NP_001395321.1:p.Glu626Ter nonsense NM_001408396.1:c.1876G>T NP_001395325.1:p.Glu626Ter nonsense NM_001408397.1:c.1876G>T NP_001395326.1:p.Glu626Ter nonsense NM_001408398.1:c.1876G>T NP_001395327.1:p.Glu626Ter nonsense NM_001408399.1:c.1876G>T NP_001395328.1:p.Glu626Ter nonsense NM_001408400.1:c.1876G>T NP_001395329.1:p.Glu626Ter nonsense NM_001408401.1:c.1876G>T NP_001395330.1:p.Glu626Ter nonsense NM_001408402.1:c.1876G>T NP_001395331.1:p.Glu626Ter nonsense NM_001408403.1:c.1876G>T NP_001395332.1:p.Glu626Ter nonsense NM_001408404.1:c.1876G>T NP_001395333.1:p.Glu626Ter nonsense NM_001408406.1:c.1873G>T NP_001395335.1:p.Glu625Ter nonsense NM_001408407.1:c.1873G>T NP_001395336.1:p.Glu625Ter nonsense NM_001408408.1:c.1873G>T NP_001395337.1:p.Glu625Ter nonsense NM_001408409.1:c.1870G>T NP_001395338.1:p.Glu624Ter nonsense NM_001408410.1:c.1807G>T NP_001395339.1:p.Glu603Ter nonsense NM_001408411.1:c.1804G>T NP_001395340.1:p.Glu602Ter nonsense NM_001408412.1:c.1801G>T NP_001395341.1:p.Glu601Ter nonsense NM_001408413.1:c.1801G>T NP_001395342.1:p.Glu601Ter nonsense NM_001408414.1:c.1801G>T NP_001395343.1:p.Glu601Ter nonsense NM_001408415.1:c.1801G>T NP_001395344.1:p.Glu601Ter nonsense NM_001408416.1:c.1801G>T NP_001395345.1:p.Glu601Ter nonsense NM_001408418.1:c.1765G>T NP_001395347.1:p.Glu589Ter nonsense NM_001408419.1:c.1765G>T NP_001395348.1:p.Glu589Ter nonsense NM_001408420.1:c.1765G>T NP_001395349.1:p.Glu589Ter nonsense NM_001408421.1:c.1762G>T NP_001395350.1:p.Glu588Ter nonsense NM_001408422.1:c.1762G>T NP_001395351.1:p.Glu588Ter nonsense NM_001408423.1:c.1762G>T NP_001395352.1:p.Glu588Ter nonsense NM_001408424.1:c.1762G>T NP_001395353.1:p.Glu588Ter nonsense NM_001408425.1:c.1759G>T NP_001395354.1:p.Glu587Ter nonsense NM_001408426.1:c.1759G>T NP_001395355.1:p.Glu587Ter nonsense NM_001408427.1:c.1759G>T NP_001395356.1:p.Glu587Ter nonsense NM_001408428.1:c.1759G>T NP_001395357.1:p.Glu587Ter nonsense NM_001408429.1:c.1759G>T NP_001395358.1:p.Glu587Ter nonsense NM_001408430.1:c.1759G>T NP_001395359.1:p.Glu587Ter nonsense NM_001408431.1:c.1759G>T NP_001395360.1:p.Glu587Ter nonsense NM_001408432.1:c.1756G>T NP_001395361.1:p.Glu586Ter nonsense NM_001408433.1:c.1756G>T NP_001395362.1:p.Glu586Ter nonsense NM_001408434.1:c.1756G>T NP_001395363.1:p.Glu586Ter nonsense NM_001408435.1:c.1756G>T NP_001395364.1:p.Glu586Ter nonsense NM_001408436.1:c.1756G>T NP_001395365.1:p.Glu586Ter nonsense NM_001408437.1:c.1756G>T NP_001395366.1:p.Glu586Ter nonsense NM_001408438.1:c.1756G>T NP_001395367.1:p.Glu586Ter nonsense NM_001408439.1:c.1756G>T NP_001395368.1:p.Glu586Ter nonsense NM_001408440.1:c.1756G>T NP_001395369.1:p.Glu586Ter nonsense NM_001408441.1:c.1756G>T NP_001395370.1:p.Glu586Ter nonsense NM_001408442.1:c.1756G>T NP_001395371.1:p.Glu586Ter nonsense NM_001408443.1:c.1756G>T NP_001395372.1:p.Glu586Ter nonsense NM_001408444.1:c.1756G>T NP_001395373.1:p.Glu586Ter nonsense NM_001408445.1:c.1753G>T NP_001395374.1:p.Glu585Ter nonsense NM_001408446.1:c.1753G>T NP_001395375.1:p.Glu585Ter nonsense NM_001408447.1:c.1753G>T NP_001395376.1:p.Glu585Ter nonsense NM_001408448.1:c.1753G>T NP_001395377.1:p.Glu585Ter nonsense NM_001408450.1:c.1753G>T NP_001395379.1:p.Glu585Ter nonsense NM_001408451.1:c.1747G>T NP_001395380.1:p.Glu583Ter nonsense NM_001408452.1:c.1741G>T NP_001395381.1:p.Glu581Ter nonsense NM_001408453.1:c.1741G>T NP_001395382.1:p.Glu581Ter nonsense NM_001408454.1:c.1741G>T NP_001395383.1:p.Glu581Ter nonsense NM_001408455.1:c.1741G>T NP_001395384.1:p.Glu581Ter nonsense NM_001408456.1:c.1741G>T NP_001395385.1:p.Glu581Ter nonsense NM_001408457.1:c.1741G>T NP_001395386.1:p.Glu581Ter nonsense NM_001408458.1:c.1738G>T NP_001395387.1:p.Glu580Ter nonsense NM_001408459.1:c.1738G>T NP_001395388.1:p.Glu580Ter nonsense NM_001408460.1:c.1738G>T NP_001395389.1:p.Glu580Ter nonsense NM_001408461.1:c.1738G>T NP_001395390.1:p.Glu580Ter nonsense NM_001408462.1:c.1738G>T NP_001395391.1:p.Glu580Ter nonsense NM_001408463.1:c.1738G>T NP_001395392.1:p.Glu580Ter nonsense NM_001408464.1:c.1738G>T NP_001395393.1:p.Glu580Ter nonsense NM_001408465.1:c.1738G>T NP_001395394.1:p.Glu580Ter nonsense NM_001408466.1:c.1738G>T NP_001395395.1:p.Glu580Ter nonsense NM_001408467.1:c.1738G>T NP_001395396.1:p.Glu580Ter nonsense NM_001408468.1:c.1735G>T NP_001395397.1:p.Glu579Ter nonsense NM_001408469.1:c.1735G>T NP_001395398.1:p.Glu579Ter nonsense NM_001408470.1:c.1735G>T NP_001395399.1:p.Glu579Ter nonsense NM_001408472.1:c.1879G>T NP_001395401.1:p.Glu627Ter nonsense NM_001408473.1:c.1876G>T NP_001395402.1:p.Glu626Ter nonsense NM_001408474.1:c.1681G>T NP_001395403.1:p.Glu561Ter nonsense NM_001408475.1:c.1678G>T NP_001395404.1:p.Glu560Ter nonsense NM_001408476.1:c.1678G>T NP_001395405.1:p.Glu560Ter nonsense NM_001408478.1:c.1672G>T NP_001395407.1:p.Glu558Ter nonsense NM_001408479.1:c.1672G>T NP_001395408.1:p.Glu558Ter nonsense NM_001408480.1:c.1672G>T NP_001395409.1:p.Glu558Ter nonsense NM_001408481.1:c.1669G>T NP_001395410.1:p.Glu557Ter nonsense NM_001408482.1:c.1669G>T NP_001395411.1:p.Glu557Ter nonsense NM_001408483.1:c.1669G>T NP_001395412.1:p.Glu557Ter nonsense NM_001408484.1:c.1669G>T NP_001395413.1:p.Glu557Ter nonsense NM_001408485.1:c.1669G>T NP_001395414.1:p.Glu557Ter nonsense NM_001408489.1:c.1669G>T NP_001395418.1:p.Glu557Ter nonsense NM_001408490.1:c.1669G>T NP_001395419.1:p.Glu557Ter nonsense NM_001408491.1:c.1669G>T NP_001395420.1:p.Glu557Ter nonsense NM_001408492.1:c.1666G>T NP_001395421.1:p.Glu556Ter nonsense NM_001408493.1:c.1666G>T NP_001395422.1:p.Glu556Ter nonsense NM_001408494.1:c.1642G>T NP_001395423.1:p.Glu548Ter nonsense NM_001408495.1:c.1636G>T NP_001395424.1:p.Glu546Ter nonsense NM_001408496.1:c.1618G>T NP_001395425.1:p.Glu540Ter nonsense NM_001408497.1:c.1618G>T NP_001395426.1:p.Glu540Ter nonsense NM_001408498.1:c.1618G>T NP_001395427.1:p.Glu540Ter nonsense NM_001408499.1:c.1618G>T NP_001395428.1:p.Glu540Ter nonsense NM_001408500.1:c.1618G>T NP_001395429.1:p.Glu540Ter nonsense NM_001408501.1:c.1618G>T NP_001395430.1:p.Glu540Ter nonsense NM_001408502.1:c.1615G>T NP_001395431.1:p.Glu539Ter nonsense NM_001408503.1:c.1615G>T NP_001395432.1:p.Glu539Ter nonsense NM_001408504.1:c.1615G>T NP_001395433.1:p.Glu539Ter nonsense NM_001408505.1:c.1612G>T NP_001395434.1:p.Glu538Ter nonsense NM_001408506.1:c.1555G>T NP_001395435.1:p.Glu519Ter nonsense NM_001408507.1:c.1552G>T NP_001395436.1:p.Glu518Ter nonsense NM_001408508.1:c.1543G>T NP_001395437.1:p.Glu515Ter nonsense NM_001408509.1:c.1540G>T NP_001395438.1:p.Glu514Ter nonsense NM_001408510.1:c.1501G>T NP_001395439.1:p.Glu501Ter nonsense NM_001408511.1:c.1498G>T NP_001395440.1:p.Glu500Ter nonsense NM_001408512.1:c.1378G>T NP_001395441.1:p.Glu460Ter nonsense NM_001408513.1:c.1351G>T NP_001395442.1:p.Glu451Ter nonsense NM_001408514.1:c.955G>T NP_001395443.1:p.Glu319Ter nonsense NM_007297.4:c.5050G>T NP_009228.2:p.Glu1684Ter nonsense NM_007298.4:c.1879G>T NP_009229.2:p.Glu627Ter nonsense NM_007299.4:c.1879G>T NP_009230.2:p.Glu627Ter nonsense NM_007300.4:c.5254G>T NP_009231.2:p.Glu1752Ter nonsense NM_007304.2:c.1879G>T NP_009235.2:p.Glu627Ter nonsense NR_027676.2:n.5368G>T non-coding transcript variant NC_000017.11:g.43063335C>A NC_000017.10:g.41215352C>A NG_005905.2:g.154649G>T LRG_292:g.154649G>T LRG_292t1:c.5191G>T LRG_292p1:p.Glu1731Ter - Protein change
- E1731*, E627*, E1752*, E1684*, E1435*, E1618*, E1662*, E1690*, E319*, E548*, E556*, E558*, E561*, E579*, E588*, E589*, E624*, E626*, E649*, E1434*, E1602*, E1603*, E1619*, E1641*, E1659*, E1664*, E1682*, E1683*, E1688*, E1703*, E1704*, E1705*, E1727*, E451*, E500*, E501*, E519*, E581*, E583*, E586*, E587*, E603*, E862*, E1604*, E1620*, E1642*, E1661*, E1728*, E1729*, E1730*, E514*, E518*, E538*, E546*, E557*, E585*, E601*, E602*, E625*, E628*, E1562*, E1577*, E1643*, E1660*, E1663*, E1687*, E1689*, E1711*, E1712*, E1726*, E1751*, E1753*, E460*, E515*, E539*, E540*, E560*, E580*, E650*, E863*
- Other names
- -
- Canonical SPDI
- NC_000017.11:43063334:C:A
-
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.5191G>T, a NONSENSE variant, produced a function score of -2.26, 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]
-
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.
-
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 | ||
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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 |
13037 | 14843 |
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. |
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Pathogenic (1) |
criteria provided, single submitter
|
Jul 7, 2021 | RCV000571448.4 | |
Pathogenic (1) |
criteria provided, single submitter
|
Jun 23, 2023 | RCV000698353.6 | |
Pathogenic/Likely pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Nov 13, 2023 | RCV001076151.6 |
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. |
|
---|---|---|---|---|---|
Likely pathogenic
(Aug 05, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004215036.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
|
Pathogenic
(Nov 13, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004839571.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
|
Comment:
The c.5191G>T (p.Glu1731*) variant of the BRCA1 gene creates an early stop codon. It is expected to result in an absent or disrupted protein product. … (more)
The c.5191G>T (p.Glu1731*) variant of the BRCA1 gene creates an early stop codon. It is expected to result in an absent or disrupted protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Truncating variants in BRCA1 are known to be pathogenic (PMID: 21989022, 17661172, 22762150). Therefore, the c.5191G>T (p.Glu1731*) variant of the BRCA1 gene is classified as pathogenic. (less)
Number of individuals with the variant: 1
|
|
Pathogenic
(Jun 23, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000827013.4
First in ClinVar: Oct 10, 2018 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Glu1731*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Glu1731*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD 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: 37646). For these reasons, this variant has been classified as Pathogenic. (less)
|
|
Pathogenic
(Jul 07, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000665042.5
First in ClinVar: Jan 01, 2018 Last updated: May 01, 2024 |
Comment:
The p.E1731* pathogenic mutation (also known as c.5191G>T), located in coding exon 17 of the BRCA1 gene, results from a G to T substitution at … (more)
The p.E1731* pathogenic mutation (also known as c.5191G>T), located in coding exon 17 of the BRCA1 gene, results from a G to T substitution at nucleotide position 5191. This changes the amino acid from a glutamic acid to a stop codon within coding exon 17. One functional study found that this nucleotide substitution is non-functional in a high-throughput, genome editing, haploid cell survival assay (Findlay GM et al. Nature, 2018 10;562:217-222). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
|
|
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: SCV001241846.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-2.26234030610252
|
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: SCV001241846.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5191G>T, a NONSENSE variant, produced a function score of -2.26, corresponding to a functional classification of LOSS_OF_FUNCTION. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5191G>T, a NONSENSE variant, produced a function score of -2.26, 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
HelpTitle | Author | Journal | Year | Link |
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Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO). | Lecarpentier J | Breast cancer research : BCR | 2012 | PMID: 22762150 |
A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer. | Garcia-Casado Z | BMC medical genetics | 2011 | PMID: 21989022 |
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
Identification of rare complete BRCA1 gene deletion using a combination of SNP haplotype analysis, MLPA and array-CGH techniques. | Konecny M | Breast cancer research and treatment | 2008 | PMID: 17661172 |
https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
Text-mined citations for rs397507244 ...
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.