ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5368del (p.Ser1790fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.5368del (p.Ser1790fs)
Variation ID: 246134 Accession: VCV000246134.16
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43049159 (GRCh38) [ NCBI UCSC ] 17: 41201176 (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 Jul 25, 2016 Feb 20, 2024 Dec 15, 2017 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5368del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser1790fs frameshift NM_001407571.1:c.5154delT NP_001394500.1:p.Ser1719Leufs frameshift NM_001407581.1:c.5433delT NP_001394510.1:p.Ser1812Leufs frameshift NM_001407582.1:c.5433delT NP_001394511.1:p.Ser1812Leufs frameshift NM_001407583.1:c.5430delT NP_001394512.1:p.Ser1811Leufs frameshift NM_001407585.1:c.5430delT NP_001394514.1:p.Ser1811Leufs frameshift NM_001407587.1:c.5430delT NP_001394516.1:p.Ser1811Leufs frameshift NM_001407590.1:c.5427delT NP_001394519.1:p.Ser1810Leufs frameshift NM_001407591.1:c.5427delT NP_001394520.1:p.Ser1810Leufs frameshift NM_001407593.1:c.5367delT NP_001394522.1:p.Ser1790Leufs frameshift NM_001407594.1:c.5367delT NP_001394523.1:p.Ser1790Leufs frameshift NM_001407596.1:c.5367delT NP_001394525.1:p.Ser1790Leufs frameshift NM_001407597.1:c.5367delT NP_001394526.1:p.Ser1790Leufs frameshift NM_001407598.1:c.5367delT NP_001394527.1:p.Ser1790Leufs frameshift NM_001407602.1:c.5367delT NP_001394531.1:p.Ser1790Leufs frameshift NM_001407603.1:c.5367delT NP_001394532.1:p.Ser1790Leufs frameshift NM_001407605.1:c.5367delT NP_001394534.1:p.Ser1790Leufs frameshift NM_001407610.1:c.5364delT NP_001394539.1:p.Ser1789Leufs frameshift NM_001407611.1:c.5364delT NP_001394540.1:p.Ser1789Leufs frameshift NM_001407612.1:c.5364delT NP_001394541.1:p.Ser1789Leufs frameshift NM_001407613.1:c.5364delT NP_001394542.1:p.Ser1789Leufs frameshift NM_001407614.1:c.5364delT NP_001394543.1:p.Ser1789Leufs frameshift NM_001407615.1:c.5364delT NP_001394544.1:p.Ser1789Leufs frameshift NM_001407616.1:c.5364delT NP_001394545.1:p.Ser1789Leufs frameshift NM_001407617.1:c.5364delT NP_001394546.1:p.Ser1789Leufs frameshift NM_001407618.1:c.5364delT NP_001394547.1:p.Ser1789Leufs frameshift NM_001407619.1:c.5364delT NP_001394548.1:p.Ser1789Leufs frameshift NM_001407620.1:c.5364delT NP_001394549.1:p.Ser1789Leufs frameshift NM_001407621.1:c.5364delT NP_001394550.1:p.Ser1789Leufs frameshift NM_001407622.1:c.5364delT NP_001394551.1:p.Ser1789Leufs frameshift NM_001407623.1:c.5364delT NP_001394552.1:p.Ser1789Leufs frameshift NM_001407624.1:c.5364delT NP_001394553.1:p.Ser1789Leufs frameshift NM_001407625.1:c.5364delT NP_001394554.1:p.Ser1789Leufs frameshift NM_001407626.1:c.5364delT NP_001394555.1:p.Ser1789Leufs frameshift NM_001407627.1:c.5361delT NP_001394556.1:p.Ser1788Leufs frameshift NM_001407628.1:c.5361delT NP_001394557.1:p.Ser1788Leufs frameshift NM_001407629.1:c.5361delT NP_001394558.1:p.Ser1788Leufs frameshift NM_001407630.1:c.5361delT NP_001394559.1:p.Ser1788Leufs frameshift NM_001407631.1:c.5361delT NP_001394560.1:p.Ser1788Leufs frameshift NM_001407632.1:c.5361delT NP_001394561.1:p.Ser1788Leufs frameshift NM_001407633.1:c.5361delT NP_001394562.1:p.Ser1788Leufs frameshift NM_001407634.1:c.5361delT NP_001394563.1:p.Ser1788Leufs frameshift NM_001407635.1:c.5361delT NP_001394564.1:p.Ser1788Leufs frameshift NM_001407636.1:c.5361delT NP_001394565.1:p.Ser1788Leufs frameshift NM_001407637.1:c.5361delT NP_001394566.1:p.Ser1788Leufs frameshift NM_001407638.1:c.5361delT NP_001394567.1:p.Ser1788Leufs frameshift NM_001407639.1:c.5361delT NP_001394568.1:p.Ser1788Leufs frameshift NM_001407640.1:c.5361delT NP_001394569.1:p.Ser1788Leufs frameshift NM_001407641.1:c.5361delT NP_001394570.1:p.Ser1788Leufs frameshift NM_001407642.1:c.5361delT NP_001394571.1:p.Ser1788Leufs frameshift NM_001407644.1:c.5358delT NP_001394573.1:p.Ser1787Leufs frameshift NM_001407645.1:c.5358delT NP_001394574.1:p.Ser1787Leufs frameshift NM_001407646.1:c.5355delT NP_001394575.1:p.Ser1786Leufs frameshift NM_001407647.1:c.5352delT NP_001394576.1:p.Ser1785Leufs frameshift NM_001407648.1:c.5310delT NP_001394577.1:p.Ser1771Leufs frameshift NM_001407649.1:c.5307delT NP_001394578.1:p.Ser1770Leufs frameshift NM_001407652.1:c.5289delT NP_001394581.1:p.Ser1764Leufs frameshift NM_001407653.1:c.5289delT NP_001394582.1:p.Ser1764Leufs frameshift NM_001407654.1:c.5289delT NP_001394583.1:p.Ser1764Leufs frameshift NM_001407655.1:c.5289delT NP_001394584.1:p.Ser1764Leufs frameshift NM_001407656.1:c.5286delT NP_001394585.1:p.Ser1763Leufs frameshift NM_001407657.1:c.5286delT NP_001394586.1:p.Ser1763Leufs frameshift NM_001407658.1:c.5286delT NP_001394587.1:p.Ser1763Leufs frameshift NM_001407659.1:c.5283delT NP_001394588.1:p.Ser1762Leufs frameshift NM_001407660.1:c.5283delT NP_001394589.1:p.Ser1762Leufs frameshift NM_001407661.1:c.5283delT NP_001394590.1:p.Ser1762Leufs frameshift NM_001407662.1:c.5283delT NP_001394591.1:p.Ser1762Leufs frameshift NM_001407663.1:c.5283delT NP_001394592.1:p.Ser1762Leufs frameshift NM_001407664.1:c.5244delT NP_001394593.1:p.Ser1749Leufs frameshift NM_001407665.1:c.5244delT NP_001394594.1:p.Ser1749Leufs frameshift NM_001407666.1:c.5244delT NP_001394595.1:p.Ser1749Leufs frameshift NM_001407667.1:c.5244delT NP_001394596.1:p.Ser1749Leufs frameshift NM_001407668.1:c.5244delT NP_001394597.1:p.Ser1749Leufs frameshift NM_001407669.1:c.5244delT NP_001394598.1:p.Ser1749Leufs frameshift NM_001407670.1:c.5241delT NP_001394599.1:p.Ser1748Leufs frameshift NM_001407671.1:c.5241delT NP_001394600.1:p.Ser1748Leufs frameshift NM_001407672.1:c.5241delT NP_001394601.1:p.Ser1748Leufs frameshift NM_001407673.1:c.5241delT NP_001394602.1:p.Ser1748Leufs frameshift NM_001407674.1:c.5241delT NP_001394603.1:p.Ser1748Leufs frameshift NM_001407675.1:c.5241delT NP_001394604.1:p.Ser1748Leufs frameshift NM_001407676.1:c.5241delT NP_001394605.1:p.Ser1748Leufs frameshift NM_001407677.1:c.5241delT NP_001394606.1:p.Ser1748Leufs frameshift NM_001407678.1:c.5241delT NP_001394607.1:p.Ser1748Leufs frameshift NM_001407679.1:c.5241delT NP_001394608.1:p.Ser1748Leufs frameshift NM_001407680.1:c.5241delT NP_001394609.1:p.Ser1748Leufs frameshift NM_001407681.1:c.5238delT NP_001394610.1:p.Ser1747Leufs frameshift NM_001407682.1:c.5238delT NP_001394611.1:p.Ser1747Leufs frameshift NM_001407683.1:c.5238delT NP_001394612.1:p.Ser1747Leufs frameshift NM_001407685.1:c.5238delT NP_001394614.1:p.Ser1747Leufs frameshift NM_001407686.1:c.5238delT NP_001394615.1:p.Ser1747Leufs frameshift NM_001407687.1:c.5238delT NP_001394616.1:p.Ser1747Leufs frameshift NM_001407688.1:c.5238delT NP_001394617.1:p.Ser1747Leufs frameshift NM_001407689.1:c.5238delT NP_001394618.1:p.Ser1747Leufs frameshift NM_001407690.1:c.5235delT NP_001394619.1:p.Ser1746Leufs frameshift NM_001407691.1:c.5235delT NP_001394620.1:p.Ser1746Leufs frameshift NM_001407692.1:c.5226delT NP_001394621.1:p.Ser1743Leufs frameshift NM_001407694.1:c.5226delT NP_001394623.1:p.Ser1743Leufs frameshift NM_001407695.1:c.5226delT NP_001394624.1:p.Ser1743Leufs frameshift NM_001407696.1:c.5226delT NP_001394625.1:p.Ser1743Leufs frameshift NM_001407697.1:c.5226delT NP_001394626.1:p.Ser1743Leufs frameshift NM_001407698.1:c.5226delT NP_001394627.1:p.Ser1743Leufs frameshift NM_001407724.1:c.5226delT NP_001394653.1:p.Ser1743Leufs frameshift NM_001407725.1:c.5226delT NP_001394654.1:p.Ser1743Leufs frameshift NM_001407726.1:c.5226delT NP_001394655.1:p.Ser1743Leufs frameshift NM_001407727.1:c.5226delT NP_001394656.1:p.Ser1743Leufs frameshift NM_001407728.1:c.5226delT NP_001394657.1:p.Ser1743Leufs frameshift NM_001407729.1:c.5226delT NP_001394658.1:p.Ser1743Leufs frameshift NM_001407730.1:c.5226delT NP_001394659.1:p.Ser1743Leufs frameshift NM_001407731.1:c.5226delT NP_001394660.1:p.Ser1743Leufs frameshift NM_001407732.1:c.5223delT NP_001394661.1:p.Ser1742Leufs frameshift NM_001407733.1:c.5223delT NP_001394662.1:p.Ser1742Leufs frameshift NM_001407734.1:c.5223delT NP_001394663.1:p.Ser1742Leufs frameshift NM_001407735.1:c.5223delT NP_001394664.1:p.Ser1742Leufs frameshift NM_001407736.1:c.5223delT NP_001394665.1:p.Ser1742Leufs frameshift NM_001407737.1:c.5223delT NP_001394666.1:p.Ser1742Leufs frameshift NM_001407738.1:c.5223delT NP_001394667.1:p.Ser1742Leufs frameshift NM_001407739.1:c.5223delT NP_001394668.1:p.Ser1742Leufs frameshift NM_001407740.1:c.5223delT NP_001394669.1:p.Ser1742Leufs frameshift NM_001407741.1:c.5223delT NP_001394670.1:p.Ser1742Leufs frameshift NM_001407742.1:c.5223delT NP_001394671.1:p.Ser1742Leufs frameshift NM_001407743.1:c.5223delT NP_001394672.1:p.Ser1742Leufs frameshift NM_001407744.1:c.5223delT NP_001394673.1:p.Ser1742Leufs frameshift NM_001407745.1:c.5223delT NP_001394674.1:p.Ser1742Leufs frameshift NM_001407746.1:c.5223delT NP_001394675.1:p.Ser1742Leufs frameshift NM_001407747.1:c.5223delT NP_001394676.1:p.Ser1742Leufs frameshift NM_001407748.1:c.5223delT NP_001394677.1:p.Ser1742Leufs frameshift NM_001407749.1:c.5223delT NP_001394678.1:p.Ser1742Leufs frameshift NM_001407750.1:c.5223delT NP_001394679.1:p.Ser1742Leufs frameshift NM_001407751.1:c.5223delT NP_001394680.1:p.Ser1742Leufs frameshift NM_001407752.1:c.5223delT NP_001394681.1:p.Ser1742Leufs frameshift NM_001407838.1:c.5220delT NP_001394767.1:p.Ser1741Leufs frameshift NM_001407839.1:c.5220delT NP_001394768.1:p.Ser1741Leufs frameshift NM_001407841.1:c.5220delT NP_001394770.1:p.Ser1741Leufs frameshift NM_001407842.1:c.5220delT NP_001394771.1:p.Ser1741Leufs frameshift NM_001407843.1:c.5220delT NP_001394772.1:p.Ser1741Leufs frameshift NM_001407844.1:c.5220delT NP_001394773.1:p.Ser1741Leufs frameshift NM_001407845.1:c.5220delT NP_001394774.1:p.Ser1741Leufs frameshift NM_001407846.1:c.5220delT NP_001394775.1:p.Ser1741Leufs frameshift NM_001407847.1:c.5220delT NP_001394776.1:p.Ser1741Leufs frameshift NM_001407848.1:c.5220delT NP_001394777.1:p.Ser1741Leufs frameshift NM_001407849.1:c.5220delT NP_001394778.1:p.Ser1741Leufs frameshift NM_001407850.1:c.5220delT NP_001394779.1:p.Ser1741Leufs frameshift NM_001407851.1:c.5220delT NP_001394780.1:p.Ser1741Leufs frameshift NM_001407852.1:c.5220delT NP_001394781.1:p.Ser1741Leufs frameshift NM_001407853.1:c.5220delT NP_001394782.1:p.Ser1741Leufs frameshift NM_001407862.1:c.5166delT NP_001394791.1:p.Ser1723Leufs frameshift NM_001407863.1:c.5163delT NP_001394792.1:p.Ser1722Leufs frameshift NM_001407874.1:c.5160delT NP_001394803.1:p.Ser1721Leufs frameshift NM_001407875.1:c.5160delT NP_001394804.1:p.Ser1721Leufs frameshift NM_001407879.1:c.5157delT NP_001394808.1:p.Ser1720Leufs frameshift NM_001407881.1:c.5157delT NP_001394810.1:p.Ser1720Leufs frameshift NM_001407882.1:c.5157delT NP_001394811.1:p.Ser1720Leufs frameshift NM_001407884.1:c.5157delT NP_001394813.1:p.Ser1720Leufs frameshift NM_001407885.1:c.5157delT NP_001394814.1:p.Ser1720Leufs frameshift NM_001407886.1:c.5157delT NP_001394815.1:p.Ser1720Leufs frameshift NM_001407887.1:c.5157delT NP_001394816.1:p.Ser1720Leufs frameshift NM_001407889.1:c.5157delT NP_001394818.1:p.Ser1720Leufs frameshift NM_001407894.1:c.5154delT NP_001394823.1:p.Ser1719Leufs frameshift NM_001407895.1:c.5154delT NP_001394824.1:p.Ser1719Leufs frameshift NM_001407896.1:c.5154delT NP_001394825.1:p.Ser1719Leufs frameshift NM_001407897.1:c.5154delT NP_001394826.1:p.Ser1719Leufs frameshift NM_001407898.1:c.5154delT NP_001394827.1:p.Ser1719Leufs frameshift NM_001407899.1:c.5154delT NP_001394828.1:p.Ser1719Leufs frameshift NM_001407900.1:c.5154delT NP_001394829.1:p.Ser1719Leufs frameshift NM_001407902.1:c.5154delT NP_001394831.1:p.Ser1719Leufs frameshift NM_001407904.1:c.5154delT NP_001394833.1:p.Ser1719Leufs frameshift NM_001407906.1:c.5154delT NP_001394835.1:p.Ser1719Leufs frameshift NM_001407907.1:c.5154delT NP_001394836.1:p.Ser1719Leufs frameshift NM_001407908.1:c.5154delT NP_001394837.1:p.Ser1719Leufs frameshift NM_001407909.1:c.5154delT NP_001394838.1:p.Ser1719Leufs frameshift NM_001407910.1:c.5154delT NP_001394839.1:p.Ser1719Leufs frameshift NM_001407915.1:c.5151delT NP_001394844.1:p.Ser1718Leufs frameshift NM_001407916.1:c.5151delT NP_001394845.1:p.Ser1718Leufs frameshift NM_001407917.1:c.5151delT NP_001394846.1:p.Ser1718Leufs frameshift NM_001407918.1:c.5151delT NP_001394847.1:p.Ser1718Leufs frameshift NM_001407920.1:c.5103delT NP_001394849.1:p.Ser1702Leufs frameshift NM_001407921.1:c.5103delT NP_001394850.1:p.Ser1702Leufs frameshift NM_001407922.1:c.5103delT NP_001394851.1:p.Ser1702Leufs frameshift NM_001407923.1:c.5103delT NP_001394852.1:p.Ser1702Leufs frameshift NM_001407924.1:c.5103delT NP_001394853.1:p.Ser1702Leufs frameshift NM_001407925.1:c.5103delT NP_001394854.1:p.Ser1702Leufs frameshift NM_001407926.1:c.5103delT NP_001394855.1:p.Ser1702Leufs frameshift NM_001407927.1:c.5100delT NP_001394856.1:p.Ser1701Leufs frameshift NM_001407928.1:c.5100delT NP_001394857.1:p.Ser1701Leufs frameshift NM_001407929.1:c.5100delT NP_001394858.1:p.Ser1701Leufs frameshift NM_001407930.1:c.5100delT NP_001394859.1:p.Ser1701Leufs frameshift NM_001407931.1:c.5100delT NP_001394860.1:p.Ser1701Leufs frameshift NM_001407932.1:c.5100delT NP_001394861.1:p.Ser1701Leufs frameshift NM_001407933.1:c.5100delT NP_001394862.1:p.Ser1701Leufs frameshift NM_001407934.1:c.5097delT NP_001394863.1:p.Ser1700Leufs frameshift NM_001407935.1:c.5097delT NP_001394864.1:p.Ser1700Leufs frameshift NM_001407936.1:c.5097delT NP_001394865.1:p.Ser1700Leufs frameshift NM_001407946.1:c.5034delT NP_001394875.1:p.Ser1679Leufs frameshift NM_001407947.1:c.5034delT NP_001394876.1:p.Ser1679Leufs frameshift NM_001407948.1:c.5034delT NP_001394877.1:p.Ser1679Leufs frameshift NM_001407949.1:c.5034delT NP_001394878.1:p.Ser1679Leufs frameshift NM_001407950.1:c.5031delT NP_001394879.1:p.Ser1678Leufs frameshift NM_001407951.1:c.5031delT NP_001394880.1:p.Ser1678Leufs frameshift NM_001407952.1:c.5031delT NP_001394881.1:p.Ser1678Leufs frameshift NM_001407953.1:c.5031delT NP_001394882.1:p.Ser1678Leufs frameshift NM_001407954.1:c.5031delT NP_001394883.1:p.Ser1678Leufs frameshift NM_001407955.1:c.5031delT NP_001394884.1:p.Ser1678Leufs frameshift NM_001407956.1:c.5028delT NP_001394885.1:p.Ser1677Leufs frameshift NM_001407957.1:c.5028delT NP_001394886.1:p.Ser1677Leufs frameshift NM_001407958.1:c.5028delT NP_001394887.1:p.Ser1677Leufs frameshift NM_001407959.1:c.4986delT NP_001394888.1:p.Ser1663Leufs frameshift NM_001407960.1:c.4983delT NP_001394889.1:p.Ser1662Leufs frameshift NM_001407962.1:c.4983delT NP_001394891.1:p.Ser1662Leufs frameshift NM_001407963.1:c.4980delT NP_001394892.1:p.Ser1661Leufs frameshift NM_001407964.1:c.4905delT NP_001394893.1:p.Ser1636Leufs frameshift NM_001407965.1:c.4860delT NP_001394894.1:p.Ser1621Leufs frameshift NM_001407966.1:c.4479delT NP_001394895.1:p.Ser1494Leufs frameshift NM_001407967.1:c.4476delT NP_001394896.1:p.Ser1493Leufs frameshift NM_001407968.1:c.2763delT NP_001394897.1:p.Ser922Leufs frameshift NM_001407969.1:c.2760delT NP_001394898.1:p.Ser921Leufs frameshift NM_001407970.1:c.2124delT NP_001394899.1:p.Ser709Leufs frameshift NM_001407971.1:c.2124delT NP_001394900.1:p.Ser709Leufs frameshift NM_001407972.1:c.2121delT NP_001394901.1:p.Ser708Leufs frameshift NM_001407973.1:c.2058delT NP_001394902.1:p.Ser687Leufs frameshift NM_001407974.1:c.2058delT NP_001394903.1:p.Ser687Leufs frameshift NM_001407975.1:c.2058delT NP_001394904.1:p.Ser687Leufs frameshift NM_001407976.1:c.2058delT NP_001394905.1:p.Ser687Leufs frameshift NM_001407977.1:c.2058delT NP_001394906.1:p.Ser687Leufs frameshift NM_001407978.1:c.2058delT NP_001394907.1:p.Ser687Leufs frameshift NM_001407979.1:c.2055delT NP_001394908.1:p.Ser686Leufs frameshift NM_001407980.1:c.2055delT NP_001394909.1:p.Ser686Leufs frameshift NM_001407981.1:c.2055delT NP_001394910.1:p.Ser686Leufs frameshift NM_001407982.1:c.2055delT NP_001394911.1:p.Ser686Leufs frameshift NM_001407983.1:c.2055delT NP_001394912.1:p.Ser686Leufs frameshift NM_001407984.1:c.2055delT NP_001394913.1:p.Ser686Leufs frameshift NM_001407985.1:c.2055delT NP_001394914.1:p.Ser686Leufs frameshift NM_001407986.1:c.2055delT NP_001394915.1:p.Ser686Leufs frameshift NM_001407990.1:c.2055delT NP_001394919.1:p.Ser686Leufs frameshift NM_001407991.1:c.2055delT NP_001394920.1:p.Ser686Leufs frameshift NM_001407992.1:c.2055delT NP_001394921.1:p.Ser686Leufs frameshift NM_001407993.1:c.2055delT NP_001394922.1:p.Ser686Leufs frameshift NM_001408392.1:c.2052delT NP_001395321.1:p.Ser685Leufs frameshift NM_001408396.1:c.2052delT NP_001395325.1:p.Ser685Leufs frameshift NM_001408397.1:c.2052delT NP_001395326.1:p.Ser685Leufs frameshift NM_001408398.1:c.2052delT NP_001395327.1:p.Ser685Leufs frameshift NM_001408399.1:c.2052delT NP_001395328.1:p.Ser685Leufs frameshift NM_001408400.1:c.2052delT NP_001395329.1:p.Ser685Leufs frameshift NM_001408401.1:c.2052delT NP_001395330.1:p.Ser685Leufs frameshift NM_001408402.1:c.2052delT NP_001395331.1:p.Ser685Leufs frameshift NM_001408403.1:c.2052delT NP_001395332.1:p.Ser685Leufs frameshift NM_001408404.1:c.2052delT NP_001395333.1:p.Ser685Leufs frameshift NM_001408406.1:c.2049delT NP_001395335.1:p.Ser684Leufs frameshift NM_001408407.1:c.2049delT NP_001395336.1:p.Ser684Leufs frameshift NM_001408408.1:c.2049delT NP_001395337.1:p.Ser684Leufs frameshift NM_001408409.1:c.2046delT NP_001395338.1:p.Ser683Leufs frameshift NM_001408410.1:c.1983delT NP_001395339.1:p.Ser662Leufs frameshift NM_001408411.1:c.1980delT NP_001395340.1:p.Ser661Leufs frameshift NM_001408412.1:c.1977delT NP_001395341.1:p.Ser660Leufs frameshift NM_001408413.1:c.1977delT NP_001395342.1:p.Ser660Leufs frameshift NM_001408414.1:c.1977delT NP_001395343.1:p.Ser660Leufs frameshift NM_001408415.1:c.1977delT NP_001395344.1:p.Ser660Leufs frameshift NM_001408416.1:c.1977delT NP_001395345.1:p.Ser660Leufs frameshift NM_001408418.1:c.1941delT NP_001395347.1:p.Ser648Leufs frameshift NM_001408419.1:c.1941delT NP_001395348.1:p.Ser648Leufs frameshift NM_001408420.1:c.1941delT NP_001395349.1:p.Ser648Leufs frameshift NM_001408421.1:c.1938delT NP_001395350.1:p.Ser647Leufs frameshift NM_001408422.1:c.1938delT NP_001395351.1:p.Ser647Leufs frameshift NM_001408423.1:c.1938delT NP_001395352.1:p.Ser647Leufs frameshift NM_001408424.1:c.1938delT NP_001395353.1:p.Ser647Leufs frameshift NM_001408425.1:c.1935delT NP_001395354.1:p.Ser646Leufs frameshift NM_001408426.1:c.1935delT NP_001395355.1:p.Ser646Leufs frameshift NM_001408427.1:c.1935delT NP_001395356.1:p.Ser646Leufs frameshift NM_001408428.1:c.1935delT NP_001395357.1:p.Ser646Leufs frameshift NM_001408429.1:c.1935delT NP_001395358.1:p.Ser646Leufs frameshift NM_001408430.1:c.1935delT NP_001395359.1:p.Ser646Leufs frameshift NM_001408431.1:c.1935delT NP_001395360.1:p.Ser646Leufs frameshift NM_001408432.1:c.1932delT NP_001395361.1:p.Ser645Leufs frameshift NM_001408433.1:c.1932delT NP_001395362.1:p.Ser645Leufs frameshift NM_001408434.1:c.1932delT NP_001395363.1:p.Ser645Leufs frameshift NM_001408435.1:c.1932delT NP_001395364.1:p.Ser645Leufs frameshift NM_001408436.1:c.1932delT NP_001395365.1:p.Ser645Leufs frameshift NM_001408437.1:c.1932delT NP_001395366.1:p.Ser645Leufs frameshift NM_001408438.1:c.1932delT NP_001395367.1:p.Ser645Leufs frameshift NM_001408439.1:c.1932delT NP_001395368.1:p.Ser645Leufs frameshift NM_001408440.1:c.1932delT NP_001395369.1:p.Ser645Leufs frameshift NM_001408441.1:c.1932delT NP_001395370.1:p.Ser645Leufs frameshift NM_001408442.1:c.1932delT NP_001395371.1:p.Ser645Leufs frameshift NM_001408443.1:c.1932delT NP_001395372.1:p.Ser645Leufs frameshift NM_001408444.1:c.1932delT NP_001395373.1:p.Ser645Leufs frameshift NM_001408445.1:c.1929delT NP_001395374.1:p.Ser644Leufs frameshift NM_001408446.1:c.1929delT NP_001395375.1:p.Ser644Leufs frameshift NM_001408447.1:c.1929delT NP_001395376.1:p.Ser644Leufs frameshift NM_001408448.1:c.1929delT NP_001395377.1:p.Ser644Leufs frameshift NM_001408450.1:c.1929delT NP_001395379.1:p.Ser644Leufs frameshift NM_001408451.1:c.1923delT NP_001395380.1:p.Ser642Leufs frameshift NM_001408452.1:c.1917delT NP_001395381.1:p.Ser640Leufs frameshift NM_001408453.1:c.1917delT NP_001395382.1:p.Ser640Leufs frameshift NM_001408454.1:c.1917delT NP_001395383.1:p.Ser640Leufs frameshift NM_001408455.1:c.1917delT NP_001395384.1:p.Ser640Leufs frameshift NM_001408456.1:c.1917delT NP_001395385.1:p.Ser640Leufs frameshift NM_001408457.1:c.1917delT NP_001395386.1:p.Ser640Leufs frameshift NM_001408458.1:c.1914delT NP_001395387.1:p.Ser639Leufs frameshift NM_001408459.1:c.1914delT NP_001395388.1:p.Ser639Leufs frameshift NM_001408460.1:c.1914delT NP_001395389.1:p.Ser639Leufs frameshift NM_001408461.1:c.1914delT NP_001395390.1:p.Ser639Leufs frameshift NM_001408462.1:c.1914delT NP_001395391.1:p.Ser639Leufs frameshift NM_001408463.1:c.1914delT NP_001395392.1:p.Ser639Leufs frameshift NM_001408464.1:c.1914delT NP_001395393.1:p.Ser639Leufs frameshift NM_001408465.1:c.1914delT NP_001395394.1:p.Ser639Leufs frameshift NM_001408466.1:c.1914delT NP_001395395.1:p.Ser639Leufs frameshift NM_001408467.1:c.1914delT NP_001395396.1:p.Ser639Leufs frameshift NM_001408468.1:c.1911delT NP_001395397.1:p.Ser638Leufs frameshift NM_001408469.1:c.1911delT NP_001395398.1:p.Ser638Leufs frameshift NM_001408470.1:c.1911delT NP_001395399.1:p.Ser638Leufs frameshift NM_001408474.1:c.1857delT NP_001395403.1:p.Ser620Leufs frameshift NM_001408475.1:c.1854delT NP_001395404.1:p.Ser619Leufs frameshift NM_001408476.1:c.1854delT NP_001395405.1:p.Ser619Leufs frameshift NM_001408478.1:c.1848delT NP_001395407.1:p.Ser617Leufs frameshift NM_001408479.1:c.1848delT NP_001395408.1:p.Ser617Leufs frameshift NM_001408480.1:c.1848delT NP_001395409.1:p.Ser617Leufs frameshift NM_001408481.1:c.1845delT NP_001395410.1:p.Ser616Leufs frameshift NM_001408482.1:c.1845delT NP_001395411.1:p.Ser616Leufs frameshift NM_001408483.1:c.1845delT NP_001395412.1:p.Ser616Leufs frameshift NM_001408484.1:c.1845delT NP_001395413.1:p.Ser616Leufs frameshift NM_001408485.1:c.1845delT NP_001395414.1:p.Ser616Leufs frameshift NM_001408489.1:c.1845delT NP_001395418.1:p.Ser616Leufs frameshift NM_001408490.1:c.1845delT NP_001395419.1:p.Ser616Leufs frameshift NM_001408491.1:c.1845delT NP_001395420.1:p.Ser616Leufs frameshift NM_001408492.1:c.1842delT NP_001395421.1:p.Ser615Leufs frameshift NM_001408493.1:c.1842delT NP_001395422.1:p.Ser615Leufs frameshift NM_001408494.1:c.1818delT NP_001395423.1:p.Ser607Leufs frameshift NM_001408495.1:c.1812delT NP_001395424.1:p.Ser605Leufs frameshift NM_001408496.1:c.1794delT NP_001395425.1:p.Ser599Leufs frameshift NM_001408497.1:c.1794delT NP_001395426.1:p.Ser599Leufs frameshift NM_001408498.1:c.1794delT NP_001395427.1:p.Ser599Leufs frameshift NM_001408499.1:c.1794delT NP_001395428.1:p.Ser599Leufs frameshift NM_001408500.1:c.1794delT NP_001395429.1:p.Ser599Leufs frameshift NM_001408501.1:c.1794delT NP_001395430.1:p.Ser599Leufs frameshift NM_001408502.1:c.1791delT NP_001395431.1:p.Ser598Leufs frameshift NM_001408503.1:c.1791delT NP_001395432.1:p.Ser598Leufs frameshift NM_001408504.1:c.1791delT NP_001395433.1:p.Ser598Leufs frameshift NM_001408505.1:c.1788delT NP_001395434.1:p.Ser597Leufs frameshift NM_001408506.1:c.1731delT NP_001395435.1:p.Ser578Leufs frameshift NM_001408507.1:c.1728delT NP_001395436.1:p.Ser577Leufs frameshift NM_001408508.1:c.1719delT NP_001395437.1:p.Ser574Leufs frameshift NM_001408509.1:c.1716delT NP_001395438.1:p.Ser573Leufs frameshift NM_001408510.1:c.1677delT NP_001395439.1:p.Ser560Leufs frameshift NM_001408511.1:c.1674delT NP_001395440.1:p.Ser559Leufs frameshift NM_001408512.1:c.1554delT NP_001395441.1:p.Ser519Leufs frameshift NM_001408513.1:c.1527delT NP_001395442.1:p.Ser510Leufs frameshift NM_001408514.1:c.1131delT NP_001395443.1:p.Ser378Leufs frameshift NM_007294.3:c.5367delT NP_009225.1:p.Ser1790Leufs frameshift NM_007294.3:c.5368delT frameshift NM_007297.4:c.5227del NP_009228.2:p.Ser1743fs frameshift NM_007298.4:c.2055delT NP_009229.2:p.Ser686Leufs frameshift NM_007299.4:c.2021-1456del intron variant NM_007300.4:c.5431del NP_009231.2:p.Ser1811fs frameshift NM_007304.2:c.2055delT NP_009235.2:p.Ser686Leufs frameshift NR_027676.2:n.5545del non-coding transcript variant NC_000017.11:g.43049160del NC_000017.10:g.41201177del NG_005905.2:g.168825del LRG_292:g.168825del LRG_292t1:c.5368del LRG_292p1:p.Ser1790fs - Protein change
- S1743fs, S1790fs, S686fs, S1811fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43049158:AA:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
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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. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12940 | 14730 |
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 (3) |
criteria provided, multiple submitters, no conflicts
|
May 2, 2023 | RCV000235927.15 | |
Pathogenic (2) |
reviewed by expert panel
|
Dec 15, 2017 | RCV000660936.10 | |
Pathogenic (1) |
criteria provided, single submitter
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May 10, 2021 | RCV001804971.10 | |
Pathogenic (1) |
criteria provided, single submitter
|
Apr 10, 2022 | RCV002479945.8 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Nov 14, 2022 | RCV001804970.11 |
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. |
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Pathogenic
(Dec 15, 2017)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Study: ENIGMA
Accession: SCV000783174.1 First in ClinVar: Jul 13, 2018 Last updated: Jul 13, 2018 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
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Pathogenic
(Nov 19, 2015)
|
criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000293554.10
First in ClinVar: Jul 25, 2016 Last updated: Jul 25, 2016 |
Comment:
This deletion of one nucleotide in BRCA1 is denoted c.5368delT at the cDNA level and p.Ser1790LeufsX3 (S1790LfsX3) at the protein level. The normal sequence, with … (more)
This deletion of one nucleotide in BRCA1 is denoted c.5368delT at the cDNA level and p.Ser1790LeufsX3 (S1790LfsX3) at the protein level. The normal sequence, with the base that is deleted in braces, is TGCT[T]CTGT. Using alternate nomenclature this variant would be defined as BRCA1 5487delT. The deletion causes a frameshift, which changes a Serine to a Leucine at codon 1790, and creates a premature stop codon at position 3 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic. (less)
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Pathogenic
(Dec 13, 2021)
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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
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV002051090.1
First in ClinVar: Jan 08, 2022 Last updated: Jan 08, 2022 |
Comment:
Variant summary: BRCA1 c.5368delT (p.Ser1790LeufsX3) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: BRCA1 c.5368delT (p.Ser1790LeufsX3) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251446 control chromosomes (gnomAD). c.5368delT has been reported in the literature in an individual affected with ovarian cancer (Shi_2017). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three ClinVar submitters have assessed the variant since 2014, including one expert panel (ENIGMA), and all submitters have classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(May 10, 2021)
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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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Color Diagnostics, LLC DBA Color Health
Accession: SCV002052563.1
First in ClinVar: Jan 08, 2022 Last updated: Jan 08, 2022 |
Comment:
This variant deletes 1 nucleotide in exon 21 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant deletes 1 nucleotide in exon 21 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in at least two individuals affected with ovarian cancer (PMID: 28176296; Ahmad et al. (2020) J Mol Genet Med 14:467). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(May 02, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001133627.4
First in ClinVar: Jan 05, 2020 Last updated: Jan 06, 2024 |
Comment:
This frameshift variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. This variant has not … (more)
This frameshift variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in an individual with ovarian cancer (PMID: 28176296 (2017)). Based on the available information, this variant is classified as pathogenic. (less)
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Pathogenic
(Apr 10, 2022)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002786309.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Oct 18, 2022)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004216896.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Sep 30, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV003811844.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
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Pathogenic
(Nov 14, 2022)
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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: SCV003461787.2
First in ClinVar: Feb 07, 2023 Last updated: Feb 20, 2024 |
Comment:
This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry … (more)
This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 246134). This premature translational stop signal has been observed in individual(s) with hereditary breast and/or ovarian cancer (PMID: 30702160). This sequence change creates a premature translational stop signal (p.Ser1790Leufs*3) 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). (less)
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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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Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients. | Gao X | Human mutation | 2020 | PMID: 31825140 |
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients. | Bhaskaran SP | International journal of cancer | 2019 | PMID: 30702160 |
BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer. | Shi T | International journal of cancer | 2017 | PMID: 28176296 |
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 |
Text-mined citations for rs879254116 ...
HelpRecord last updated Jul 15, 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.