ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5503_5564del (p.Arg1835fs)
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.5503_5564del (p.Arg1835fs)
Variation ID: 55602 Accession: VCV000055602.4
- Type and length
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Deletion, 62 bp
- Location
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Cytogenetic: 17q21.31 17: 43045706-43045767 (GRCh38) [ NCBI UCSC ] 17: 41197723-41197784 (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 Dec 11, 2022 Apr 22, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5503_5564del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Arg1835fs frameshift NM_001407571.1:c.5290_5351del62 NP_001394500.1:p.Arg1764Thrfs frameshift NM_001407581.1:c.5569_5630del62 NP_001394510.1:p.Arg1857Thrfs frameshift NM_001407582.1:c.5569_5630del62 NP_001394511.1:p.Arg1857Thrfs frameshift NM_001407583.1:c.5566_5627del62 NP_001394512.1:p.Arg1856Thrfs frameshift NM_001407585.1:c.5566_5627del62 NP_001394514.1:p.Arg1856Thrfs frameshift NM_001407587.1:c.5566_5627del62 NP_001394516.1:p.Arg1856Thrfs frameshift NM_001407590.1:c.5563_5624del62 NP_001394519.1:p.Arg1855Thrfs frameshift NM_001407591.1:c.5563_5624del62 NP_001394520.1:p.Arg1855Thrfs frameshift NM_001407593.1:c.5503_5564del62 NP_001394522.1:p.Arg1835Thrfs frameshift NM_001407594.1:c.5503_5564del62 NP_001394523.1:p.Arg1835Thrfs frameshift NM_001407596.1:c.5503_5564del62 NP_001394525.1:p.Arg1835Thrfs frameshift NM_001407597.1:c.5503_5564del62 NP_001394526.1:p.Arg1835Thrfs frameshift NM_001407598.1:c.5503_5564del62 NP_001394527.1:p.Arg1835Thrfs frameshift NM_001407602.1:c.5503_5564del62 NP_001394531.1:p.Arg1835Thrfs frameshift NM_001407603.1:c.5503_5564del62 NP_001394532.1:p.Arg1835Thrfs frameshift NM_001407605.1:c.5503_5564del62 NP_001394534.1:p.Arg1835Thrfs frameshift NM_001407610.1:c.5500_5561del62 NP_001394539.1:p.Arg1834Thrfs frameshift NM_001407611.1:c.5500_5561del62 NP_001394540.1:p.Arg1834Thrfs frameshift NM_001407612.1:c.5500_5561del62 NP_001394541.1:p.Arg1834Thrfs frameshift NM_001407613.1:c.5500_5561del62 NP_001394542.1:p.Arg1834Thrfs frameshift NM_001407614.1:c.5500_5561del62 NP_001394543.1:p.Arg1834Thrfs frameshift NM_001407615.1:c.5500_5561del62 NP_001394544.1:p.Arg1834Thrfs frameshift NM_001407616.1:c.5500_5561del62 NP_001394545.1:p.Arg1834Thrfs frameshift NM_001407617.1:c.5500_5561del62 NP_001394546.1:p.Arg1834Thrfs frameshift NM_001407618.1:c.5500_5561del62 NP_001394547.1:p.Arg1834Thrfs frameshift NM_001407619.1:c.5500_5561del62 NP_001394548.1:p.Arg1834Thrfs frameshift NM_001407620.1:c.5500_5561del62 NP_001394549.1:p.Arg1834Thrfs frameshift NM_001407621.1:c.5500_5561del62 NP_001394550.1:p.Arg1834Thrfs frameshift NM_001407622.1:c.5500_5561del62 NP_001394551.1:p.Arg1834Thrfs frameshift NM_001407623.1:c.5500_5561del62 NP_001394552.1:p.Arg1834Thrfs frameshift NM_001407624.1:c.5500_5561del62 NP_001394553.1:p.Arg1834Thrfs frameshift NM_001407625.1:c.5500_5561del62 NP_001394554.1:p.Arg1834Thrfs frameshift NM_001407626.1:c.5500_5561del62 NP_001394555.1:p.Arg1834Thrfs frameshift NM_001407627.1:c.5497_5558del62 NP_001394556.1:p.Arg1833Thrfs frameshift NM_001407628.1:c.5497_5558del62 NP_001394557.1:p.Arg1833Thrfs frameshift NM_001407629.1:c.5497_5558del62 NP_001394558.1:p.Arg1833Thrfs frameshift NM_001407630.1:c.5497_5558del62 NP_001394559.1:p.Arg1833Thrfs frameshift NM_001407631.1:c.5497_5558del62 NP_001394560.1:p.Arg1833Thrfs frameshift NM_001407632.1:c.5497_5558del62 NP_001394561.1:p.Arg1833Thrfs frameshift NM_001407633.1:c.5497_5558del62 NP_001394562.1:p.Arg1833Thrfs frameshift NM_001407634.1:c.5497_5558del62 NP_001394563.1:p.Arg1833Thrfs frameshift NM_001407635.1:c.5497_5558del62 NP_001394564.1:p.Arg1833Thrfs frameshift NM_001407636.1:c.5497_5558del62 NP_001394565.1:p.Arg1833Thrfs frameshift NM_001407637.1:c.5497_5558del62 NP_001394566.1:p.Arg1833Thrfs frameshift NM_001407638.1:c.5497_5558del62 NP_001394567.1:p.Arg1833Thrfs frameshift NM_001407639.1:c.5497_5558del62 NP_001394568.1:p.Arg1833Thrfs frameshift NM_001407640.1:c.5497_5558del62 NP_001394569.1:p.Arg1833Thrfs frameshift NM_001407641.1:c.5497_5558del62 NP_001394570.1:p.Arg1833Thrfs frameshift NM_001407642.1:c.5497_5558del62 NP_001394571.1:p.Arg1833Thrfs frameshift NM_001407644.1:c.5494_5555del62 NP_001394573.1:p.Arg1832Thrfs frameshift NM_001407645.1:c.5494_5555del62 NP_001394574.1:p.Arg1832Thrfs frameshift NM_001407646.1:c.5491_5552del62 NP_001394575.1:p.Arg1831Thrfs frameshift NM_001407647.1:c.5488_5549del62 NP_001394576.1:p.Arg1830Thrfs frameshift NM_001407648.1:c.5446_5507del62 NP_001394577.1:p.Arg1816Thrfs frameshift NM_001407649.1:c.5443_5504del62 NP_001394578.1:p.Arg1815Thrfs frameshift NM_001407652.1:c.5425_5486del62 NP_001394581.1:p.Arg1809Thrfs frameshift NM_001407653.1:c.5425_5486del62 NP_001394582.1:p.Arg1809Thrfs frameshift NM_001407654.1:c.5425_5486del62 NP_001394583.1:p.Arg1809Thrfs frameshift NM_001407655.1:c.5425_5486del62 NP_001394584.1:p.Arg1809Thrfs frameshift NM_001407656.1:c.5422_5483del62 NP_001394585.1:p.Arg1808Thrfs frameshift NM_001407657.1:c.5422_5483del62 NP_001394586.1:p.Arg1808Thrfs frameshift NM_001407658.1:c.5422_5483del62 NP_001394587.1:p.Arg1808Thrfs frameshift NM_001407659.1:c.5419_5480del62 NP_001394588.1:p.Arg1807Thrfs frameshift NM_001407660.1:c.5419_5480del62 NP_001394589.1:p.Arg1807Thrfs frameshift NM_001407661.1:c.5419_5480del62 NP_001394590.1:p.Arg1807Thrfs frameshift NM_001407662.1:c.5419_5480del62 NP_001394591.1:p.Arg1807Thrfs frameshift NM_001407663.1:c.5419_5480del62 NP_001394592.1:p.Arg1807Thrfs frameshift NM_001407664.1:c.5380_5441del62 NP_001394593.1:p.Arg1794Thrfs frameshift NM_001407665.1:c.5380_5441del62 NP_001394594.1:p.Arg1794Thrfs frameshift NM_001407666.1:c.5380_5441del62 NP_001394595.1:p.Arg1794Thrfs frameshift NM_001407667.1:c.5380_5441del62 NP_001394596.1:p.Arg1794Thrfs frameshift NM_001407668.1:c.5380_5441del62 NP_001394597.1:p.Arg1794Thrfs frameshift NM_001407669.1:c.5380_5441del62 NP_001394598.1:p.Arg1794Thrfs frameshift NM_001407670.1:c.5377_5438del62 NP_001394599.1:p.Arg1793Thrfs frameshift NM_001407671.1:c.5377_5438del62 NP_001394600.1:p.Arg1793Thrfs frameshift NM_001407672.1:c.5377_5438del62 NP_001394601.1:p.Arg1793Thrfs frameshift NM_001407673.1:c.5377_5438del62 NP_001394602.1:p.Arg1793Thrfs frameshift NM_001407674.1:c.5377_5438del62 NP_001394603.1:p.Arg1793Thrfs frameshift NM_001407675.1:c.5377_5438del62 NP_001394604.1:p.Arg1793Thrfs frameshift NM_001407676.1:c.5377_5438del62 NP_001394605.1:p.Arg1793Thrfs frameshift NM_001407677.1:c.5377_5438del62 NP_001394606.1:p.Arg1793Thrfs frameshift NM_001407678.1:c.5377_5438del62 NP_001394607.1:p.Arg1793Thrfs frameshift NM_001407679.1:c.5377_5438del62 NP_001394608.1:p.Arg1793Thrfs frameshift NM_001407680.1:c.5377_5438del62 NP_001394609.1:p.Arg1793Thrfs frameshift NM_001407681.1:c.5374_5435del62 NP_001394610.1:p.Arg1792Thrfs frameshift NM_001407682.1:c.5374_5435del62 NP_001394611.1:p.Arg1792Thrfs frameshift NM_001407683.1:c.5374_5435del62 NP_001394612.1:p.Arg1792Thrfs frameshift NM_001407684.1:c.5374_5435del62 NP_001394613.1:p.Arg1792Thrfs frameshift NM_001407685.1:c.5374_5435del62 NP_001394614.1:p.Arg1792Thrfs frameshift NM_001407686.1:c.5374_5435del62 NP_001394615.1:p.Arg1792Thrfs frameshift NM_001407687.1:c.5374_5435del62 NP_001394616.1:p.Arg1792Thrfs frameshift NM_001407688.1:c.5374_5435del62 NP_001394617.1:p.Arg1792Thrfs frameshift NM_001407689.1:c.5374_5435del62 NP_001394618.1:p.Arg1792Thrfs frameshift NM_001407690.1:c.5371_5432del62 NP_001394619.1:p.Arg1791Thrfs frameshift NM_001407691.1:c.5371_5432del62 NP_001394620.1:p.Arg1791Thrfs frameshift NM_001407692.1:c.5362_5423del62 NP_001394621.1:p.Arg1788Thrfs frameshift NM_001407694.1:c.5362_5423del62 NP_001394623.1:p.Arg1788Thrfs frameshift NM_001407695.1:c.5362_5423del62 NP_001394624.1:p.Arg1788Thrfs frameshift NM_001407696.1:c.5362_5423del62 NP_001394625.1:p.Arg1788Thrfs frameshift NM_001407697.1:c.5362_5423del62 NP_001394626.1:p.Arg1788Thrfs frameshift NM_001407698.1:c.5362_5423del62 NP_001394627.1:p.Arg1788Thrfs frameshift NM_001407724.1:c.5362_5423del62 NP_001394653.1:p.Arg1788Thrfs frameshift NM_001407725.1:c.5362_5423del62 NP_001394654.1:p.Arg1788Thrfs frameshift NM_001407726.1:c.5362_5423del62 NP_001394655.1:p.Arg1788Thrfs frameshift NM_001407727.1:c.5362_5423del62 NP_001394656.1:p.Arg1788Thrfs frameshift NM_001407728.1:c.5362_5423del62 NP_001394657.1:p.Arg1788Thrfs frameshift NM_001407729.1:c.5362_5423del62 NP_001394658.1:p.Arg1788Thrfs frameshift NM_001407730.1:c.5362_5423del62 NP_001394659.1:p.Arg1788Thrfs frameshift NM_001407731.1:c.5362_5423del62 NP_001394660.1:p.Arg1788Thrfs frameshift NM_001407732.1:c.5359_5420del62 NP_001394661.1:p.Arg1787Thrfs frameshift NM_001407733.1:c.5359_5420del62 NP_001394662.1:p.Arg1787Thrfs frameshift NM_001407734.1:c.5359_5420del62 NP_001394663.1:p.Arg1787Thrfs frameshift NM_001407735.1:c.5359_5420del62 NP_001394664.1:p.Arg1787Thrfs frameshift NM_001407736.1:c.5359_5420del62 NP_001394665.1:p.Arg1787Thrfs frameshift NM_001407737.1:c.5359_5420del62 NP_001394666.1:p.Arg1787Thrfs frameshift NM_001407738.1:c.5359_5420del62 NP_001394667.1:p.Arg1787Thrfs frameshift NM_001407739.1:c.5359_5420del62 NP_001394668.1:p.Arg1787Thrfs frameshift NM_001407740.1:c.5359_5420del62 NP_001394669.1:p.Arg1787Thrfs frameshift NM_001407741.1:c.5359_5420del62 NP_001394670.1:p.Arg1787Thrfs frameshift NM_001407742.1:c.5359_5420del62 NP_001394671.1:p.Arg1787Thrfs frameshift NM_001407743.1:c.5359_5420del62 NP_001394672.1:p.Arg1787Thrfs frameshift NM_001407744.1:c.5359_5420del62 NP_001394673.1:p.Arg1787Thrfs frameshift NM_001407745.1:c.5359_5420del62 NP_001394674.1:p.Arg1787Thrfs frameshift NM_001407746.1:c.5359_5420del62 NP_001394675.1:p.Arg1787Thrfs frameshift NM_001407747.1:c.5359_5420del62 NP_001394676.1:p.Arg1787Thrfs frameshift NM_001407748.1:c.5359_5420del62 NP_001394677.1:p.Arg1787Thrfs frameshift NM_001407749.1:c.5359_5420del62 NP_001394678.1:p.Arg1787Thrfs frameshift NM_001407750.1:c.5359_5420del62 NP_001394679.1:p.Arg1787Thrfs frameshift NM_001407751.1:c.5359_5420del62 NP_001394680.1:p.Arg1787Thrfs frameshift NM_001407752.1:c.5359_5420del62 NP_001394681.1:p.Arg1787Thrfs frameshift NM_001407838.1:c.5356_5417del62 NP_001394767.1:p.Arg1786Thrfs frameshift NM_001407839.1:c.5356_5417del62 NP_001394768.1:p.Arg1786Thrfs frameshift NM_001407841.1:c.5356_5417del62 NP_001394770.1:p.Arg1786Thrfs frameshift NM_001407842.1:c.5356_5417del62 NP_001394771.1:p.Arg1786Thrfs frameshift NM_001407843.1:c.5356_5417del62 NP_001394772.1:p.Arg1786Thrfs frameshift NM_001407844.1:c.5356_5417del62 NP_001394773.1:p.Arg1786Thrfs frameshift NM_001407845.1:c.5356_5417del62 NP_001394774.1:p.Arg1786Thrfs frameshift NM_001407846.1:c.5356_5417del62 NP_001394775.1:p.Arg1786Thrfs frameshift NM_001407847.1:c.5356_5417del62 NP_001394776.1:p.Arg1786Thrfs frameshift NM_001407848.1:c.5356_5417del62 NP_001394777.1:p.Arg1786Thrfs frameshift NM_001407849.1:c.5356_5417del62 NP_001394778.1:p.Arg1786Thrfs frameshift NM_001407850.1:c.5356_5417del62 NP_001394779.1:p.Arg1786Thrfs frameshift NM_001407851.1:c.5356_5417del62 NP_001394780.1:p.Arg1786Thrfs frameshift NM_001407852.1:c.5356_5417del62 NP_001394781.1:p.Arg1786Thrfs frameshift NM_001407853.1:c.5356_5417del62 NP_001394782.1:p.Arg1786Thrfs frameshift NM_001407854.1:c.*17_*78del62 NM_001407858.1:c.*17_*78del62 NM_001407859.1:c.*17_*78del62 NM_001407860.1:c.*17_*78del62 NM_001407861.1:c.*17_*78del62 NM_001407862.1:c.5302_5363del62 NP_001394791.1:p.Arg1768Thrfs frameshift NM_001407863.1:c.5299_5360del62 NP_001394792.1:p.Arg1767Thrfs frameshift NM_001407874.1:c.5296_5357del62 NP_001394803.1:p.Arg1766Thrfs frameshift NM_001407875.1:c.5296_5357del62 NP_001394804.1:p.Arg1766Thrfs frameshift NM_001407879.1:c.5293_5354del62 NP_001394808.1:p.Arg1765Thrfs frameshift NM_001407881.1:c.5293_5354del62 NP_001394810.1:p.Arg1765Thrfs frameshift NM_001407882.1:c.5293_5354del62 NP_001394811.1:p.Arg1765Thrfs frameshift NM_001407884.1:c.5293_5354del62 NP_001394813.1:p.Arg1765Thrfs frameshift NM_001407885.1:c.5293_5354del62 NP_001394814.1:p.Arg1765Thrfs frameshift NM_001407886.1:c.5293_5354del62 NP_001394815.1:p.Arg1765Thrfs frameshift NM_001407887.1:c.5293_5354del62 NP_001394816.1:p.Arg1765Thrfs frameshift NM_001407889.1:c.5293_5354del62 NP_001394818.1:p.Arg1765Thrfs frameshift NM_001407894.1:c.5290_5351del62 NP_001394823.1:p.Arg1764Thrfs frameshift NM_001407895.1:c.5290_5351del62 NP_001394824.1:p.Arg1764Thrfs frameshift NM_001407896.1:c.5290_5351del62 NP_001394825.1:p.Arg1764Thrfs frameshift NM_001407897.1:c.5290_5351del62 NP_001394826.1:p.Arg1764Thrfs frameshift NM_001407898.1:c.5290_5351del62 NP_001394827.1:p.Arg1764Thrfs frameshift NM_001407899.1:c.5290_5351del62 NP_001394828.1:p.Arg1764Thrfs frameshift NM_001407900.1:c.5290_5351del62 NP_001394829.1:p.Arg1764Thrfs frameshift NM_001407902.1:c.5290_5351del62 NP_001394831.1:p.Arg1764Thrfs frameshift NM_001407904.1:c.5290_5351del62 NP_001394833.1:p.Arg1764Thrfs frameshift NM_001407906.1:c.5290_5351del62 NP_001394835.1:p.Arg1764Thrfs frameshift NM_001407907.1:c.5290_5351del62 NP_001394836.1:p.Arg1764Thrfs frameshift NM_001407908.1:c.5290_5351del62 NP_001394837.1:p.Arg1764Thrfs frameshift NM_001407909.1:c.5290_5351del62 NP_001394838.1:p.Arg1764Thrfs frameshift NM_001407910.1:c.5290_5351del62 NP_001394839.1:p.Arg1764Thrfs frameshift NM_001407915.1:c.5287_5348del62 NP_001394844.1:p.Arg1763Thrfs frameshift NM_001407916.1:c.5287_5348del62 NP_001394845.1:p.Arg1763Thrfs frameshift NM_001407917.1:c.5287_5348del62 NP_001394846.1:p.Arg1763Thrfs frameshift NM_001407918.1:c.5287_5348del62 NP_001394847.1:p.Arg1763Thrfs frameshift NM_001407919.1:c.5251_5312del62 NP_001394848.1:p.Arg1751Thrfs frameshift NM_001407920.1:c.5239_5300del62 NP_001394849.1:p.Arg1747Thrfs frameshift NM_001407921.1:c.5239_5300del62 NP_001394850.1:p.Arg1747Thrfs frameshift NM_001407922.1:c.5239_5300del62 NP_001394851.1:p.Arg1747Thrfs frameshift NM_001407923.1:c.5239_5300del62 NP_001394852.1:p.Arg1747Thrfs frameshift NM_001407924.1:c.5239_5300del62 NP_001394853.1:p.Arg1747Thrfs frameshift NM_001407925.1:c.5239_5300del62 NP_001394854.1:p.Arg1747Thrfs frameshift NM_001407926.1:c.5239_5300del62 NP_001394855.1:p.Arg1747Thrfs frameshift NM_001407927.1:c.5236_5297del62 NP_001394856.1:p.Arg1746Thrfs frameshift NM_001407928.1:c.5236_5297del62 NP_001394857.1:p.Arg1746Thrfs frameshift NM_001407929.1:c.5236_5297del62 NP_001394858.1:p.Arg1746Thrfs frameshift NM_001407930.1:c.5236_5297del62 NP_001394859.1:p.Arg1746Thrfs frameshift NM_001407931.1:c.5236_5297del62 NP_001394860.1:p.Arg1746Thrfs frameshift NM_001407932.1:c.5236_5297del62 NP_001394861.1:p.Arg1746Thrfs frameshift NM_001407933.1:c.5236_5297del62 NP_001394862.1:p.Arg1746Thrfs frameshift NM_001407934.1:c.5233_5294del62 NP_001394863.1:p.Arg1745Thrfs frameshift NM_001407935.1:c.5233_5294del62 NP_001394864.1:p.Arg1745Thrfs frameshift NM_001407936.1:c.5233_5294del62 NP_001394865.1:p.Arg1745Thrfs frameshift NM_001407937.1:c.*17_*78del62 NM_001407938.1:c.*17_*78del62 NM_001407939.1:c.*17_*78del62 NM_001407940.1:c.*17_*78del62 NM_001407941.1:c.*17_*78del62 NM_001407942.1:c.*17_*78del62 NM_001407943.1:c.*17_*78del62 NM_001407944.1:c.*17_*78del62 NM_001407945.1:c.*17_*78del62 NM_001407946.1:c.5170_5231del62 NP_001394875.1:p.Arg1724Thrfs frameshift NM_001407947.1:c.5170_5231del62 NP_001394876.1:p.Arg1724Thrfs frameshift NM_001407948.1:c.5170_5231del62 NP_001394877.1:p.Arg1724Thrfs frameshift NM_001407949.1:c.5170_5231del62 NP_001394878.1:p.Arg1724Thrfs frameshift NM_001407950.1:c.5167_5228del62 NP_001394879.1:p.Arg1723Thrfs frameshift NM_001407951.1:c.5167_5228del62 NP_001394880.1:p.Arg1723Thrfs frameshift NM_001407952.1:c.5167_5228del62 NP_001394881.1:p.Arg1723Thrfs frameshift NM_001407953.1:c.5167_5228del62 NP_001394882.1:p.Arg1723Thrfs frameshift NM_001407954.1:c.5167_5228del62 NP_001394883.1:p.Arg1723Thrfs frameshift NM_001407955.1:c.5167_5228del62 NP_001394884.1:p.Arg1723Thrfs frameshift NM_001407956.1:c.5164_5225del62 NP_001394885.1:p.Arg1722Thrfs frameshift NM_001407957.1:c.5164_5225del62 NP_001394886.1:p.Arg1722Thrfs frameshift NM_001407958.1:c.5164_5225del62 NP_001394887.1:p.Arg1722Thrfs frameshift NM_001407959.1:c.5122_5183del62 NP_001394888.1:p.Arg1708Thrfs frameshift NM_001407960.1:c.5119_5180del62 NP_001394889.1:p.Arg1707Thrfs frameshift NM_001407962.1:c.5119_5180del62 NP_001394891.1:p.Arg1707Thrfs frameshift NM_001407963.1:c.5116_5177del62 NP_001394892.1:p.Arg1706Thrfs frameshift NM_001407964.1:c.5041_5102del62 NP_001394893.1:p.Arg1681Thrfs frameshift NM_001407965.1:c.4996_5057del62 NP_001394894.1:p.Arg1666Thrfs frameshift NM_001407966.1:c.4615_4676del62 NP_001394895.1:p.Arg1539Thrfs frameshift NM_001407967.1:c.4612_4673del62 NP_001394896.1:p.Arg1538Thrfs frameshift NM_001407968.1:c.2899_2960del62 NP_001394897.1:p.Arg967Thrfs frameshift NM_001407969.1:c.2896_2957del62 NP_001394898.1:p.Arg966Thrfs frameshift NM_001407970.1:c.2260_2321del62 NP_001394899.1:p.Arg754Thrfs frameshift NM_001407971.1:c.2260_2321del62 NP_001394900.1:p.Arg754Thrfs frameshift NM_001407972.1:c.2257_2318del62 NP_001394901.1:p.Arg753Thrfs frameshift NM_001407973.1:c.2194_2255del62 NP_001394902.1:p.Arg732Thrfs frameshift NM_001407974.1:c.2194_2255del62 NP_001394903.1:p.Arg732Thrfs frameshift NM_001407975.1:c.2194_2255del62 NP_001394904.1:p.Arg732Thrfs frameshift NM_001407976.1:c.2194_2255del62 NP_001394905.1:p.Arg732Thrfs frameshift NM_001407977.1:c.2194_2255del62 NP_001394906.1:p.Arg732Thrfs frameshift NM_001407978.1:c.2194_2255del62 NP_001394907.1:p.Arg732Thrfs frameshift NM_001407979.1:c.2191_2252del62 NP_001394908.1:p.Arg731Thrfs frameshift NM_001407980.1:c.2191_2252del62 NP_001394909.1:p.Arg731Thrfs frameshift NM_001407981.1:c.2191_2252del62 NP_001394910.1:p.Arg731Thrfs frameshift NM_001407982.1:c.2191_2252del62 NP_001394911.1:p.Arg731Thrfs frameshift NM_001407983.1:c.2191_2252del62 NP_001394912.1:p.Arg731Thrfs frameshift NM_001407984.1:c.2191_2252del62 NP_001394913.1:p.Arg731Thrfs frameshift NM_001407985.1:c.2191_2252del62 NP_001394914.1:p.Arg731Thrfs frameshift NM_001407986.1:c.2191_2252del62 NP_001394915.1:p.Arg731Thrfs frameshift NM_001407990.1:c.2191_2252del62 NP_001394919.1:p.Arg731Thrfs frameshift NM_001407991.1:c.2191_2252del62 NP_001394920.1:p.Arg731Thrfs frameshift NM_001407992.1:c.2191_2252del62 NP_001394921.1:p.Arg731Thrfs frameshift NM_001407993.1:c.2191_2252del62 NP_001394922.1:p.Arg731Thrfs frameshift NM_001408392.1:c.2188_2249del62 NP_001395321.1:p.Arg730Thrfs frameshift NM_001408396.1:c.2188_2249del62 NP_001395325.1:p.Arg730Thrfs frameshift NM_001408397.1:c.2188_2249del62 NP_001395326.1:p.Arg730Thrfs frameshift NM_001408398.1:c.2188_2249del62 NP_001395327.1:p.Arg730Thrfs frameshift NM_001408399.1:c.2188_2249del62 NP_001395328.1:p.Arg730Thrfs frameshift NM_001408400.1:c.2188_2249del62 NP_001395329.1:p.Arg730Thrfs frameshift NM_001408401.1:c.2188_2249del62 NP_001395330.1:p.Arg730Thrfs frameshift NM_001408402.1:c.2188_2249del62 NP_001395331.1:p.Arg730Thrfs frameshift NM_001408403.1:c.2188_2249del62 NP_001395332.1:p.Arg730Thrfs frameshift NM_001408404.1:c.2188_2249del62 NP_001395333.1:p.Arg730Thrfs frameshift NM_001408406.1:c.2185_2246del62 NP_001395335.1:p.Arg729Thrfs frameshift NM_001408407.1:c.2185_2246del62 NP_001395336.1:p.Arg729Thrfs frameshift NM_001408408.1:c.2185_2246del62 NP_001395337.1:p.Arg729Thrfs frameshift NM_001408409.1:c.2182_2243del62 NP_001395338.1:p.Arg728Thrfs frameshift NM_001408410.1:c.2119_2180del62 NP_001395339.1:p.Arg707Thrfs frameshift NM_001408411.1:c.2116_2177del62 NP_001395340.1:p.Arg706Thrfs frameshift NM_001408412.1:c.2113_2174del62 NP_001395341.1:p.Arg705Thrfs frameshift NM_001408413.1:c.2113_2174del62 NP_001395342.1:p.Arg705Thrfs frameshift NM_001408414.1:c.2113_2174del62 NP_001395343.1:p.Arg705Thrfs frameshift NM_001408415.1:c.2113_2174del62 NP_001395344.1:p.Arg705Thrfs frameshift NM_001408416.1:c.2113_2174del62 NP_001395345.1:p.Arg705Thrfs frameshift NM_001408418.1:c.2077_2138del62 NP_001395347.1:p.Arg693Thrfs frameshift NM_001408419.1:c.2077_2138del62 NP_001395348.1:p.Arg693Thrfs frameshift NM_001408420.1:c.2077_2138del62 NP_001395349.1:p.Arg693Thrfs frameshift NM_001408421.1:c.2074_2135del62 NP_001395350.1:p.Arg692Thrfs frameshift NM_001408422.1:c.2074_2135del62 NP_001395351.1:p.Arg692Thrfs frameshift NM_001408423.1:c.2074_2135del62 NP_001395352.1:p.Arg692Thrfs frameshift NM_001408424.1:c.2074_2135del62 NP_001395353.1:p.Arg692Thrfs frameshift NM_001408425.1:c.2071_2132del62 NP_001395354.1:p.Arg691Thrfs frameshift NM_001408426.1:c.2071_2132del62 NP_001395355.1:p.Arg691Thrfs frameshift NM_001408427.1:c.2071_2132del62 NP_001395356.1:p.Arg691Thrfs frameshift NM_001408428.1:c.2071_2132del62 NP_001395357.1:p.Arg691Thrfs frameshift NM_001408429.1:c.2071_2132del62 NP_001395358.1:p.Arg691Thrfs frameshift NM_001408430.1:c.2071_2132del62 NP_001395359.1:p.Arg691Thrfs frameshift NM_001408431.1:c.2071_2132del62 NP_001395360.1:p.Arg691Thrfs frameshift NM_001408432.1:c.2068_2129del62 NP_001395361.1:p.Arg690Thrfs frameshift NM_001408433.1:c.2068_2129del62 NP_001395362.1:p.Arg690Thrfs frameshift NM_001408434.1:c.2068_2129del62 NP_001395363.1:p.Arg690Thrfs frameshift NM_001408435.1:c.2068_2129del62 NP_001395364.1:p.Arg690Thrfs frameshift NM_001408436.1:c.2068_2129del62 NP_001395365.1:p.Arg690Thrfs frameshift NM_001408437.1:c.2068_2129del62 NP_001395366.1:p.Arg690Thrfs frameshift NM_001408438.1:c.2068_2129del62 NP_001395367.1:p.Arg690Thrfs frameshift NM_001408439.1:c.2068_2129del62 NP_001395368.1:p.Arg690Thrfs frameshift NM_001408440.1:c.2068_2129del62 NP_001395369.1:p.Arg690Thrfs frameshift NM_001408441.1:c.2068_2129del62 NP_001395370.1:p.Arg690Thrfs frameshift NM_001408442.1:c.2068_2129del62 NP_001395371.1:p.Arg690Thrfs frameshift NM_001408443.1:c.2068_2129del62 NP_001395372.1:p.Arg690Thrfs frameshift NM_001408444.1:c.2068_2129del62 NP_001395373.1:p.Arg690Thrfs frameshift NM_001408445.1:c.2065_2126del62 NP_001395374.1:p.Arg689Thrfs frameshift NM_001408446.1:c.2065_2126del62 NP_001395375.1:p.Arg689Thrfs frameshift NM_001408447.1:c.2065_2126del62 NP_001395376.1:p.Arg689Thrfs frameshift NM_001408448.1:c.2065_2126del62 NP_001395377.1:p.Arg689Thrfs frameshift NM_001408450.1:c.2065_2126del62 NP_001395379.1:p.Arg689Thrfs frameshift NM_001408451.1:c.2059_2120del62 NP_001395380.1:p.Arg687Thrfs frameshift NM_001408452.1:c.2053_2114del62 NP_001395381.1:p.Arg685Thrfs frameshift NM_001408453.1:c.2053_2114del62 NP_001395382.1:p.Arg685Thrfs frameshift NM_001408454.1:c.2053_2114del62 NP_001395383.1:p.Arg685Thrfs frameshift NM_001408455.1:c.2053_2114del62 NP_001395384.1:p.Arg685Thrfs frameshift NM_001408456.1:c.2053_2114del62 NP_001395385.1:p.Arg685Thrfs frameshift NM_001408457.1:c.2053_2114del62 NP_001395386.1:p.Arg685Thrfs frameshift NM_001408458.1:c.2050_2111del62 NP_001395387.1:p.Arg684Thrfs frameshift NM_001408459.1:c.2050_2111del62 NP_001395388.1:p.Arg684Thrfs frameshift NM_001408460.1:c.2050_2111del62 NP_001395389.1:p.Arg684Thrfs frameshift NM_001408461.1:c.2050_2111del62 NP_001395390.1:p.Arg684Thrfs frameshift NM_001408462.1:c.2050_2111del62 NP_001395391.1:p.Arg684Thrfs frameshift NM_001408463.1:c.2050_2111del62 NP_001395392.1:p.Arg684Thrfs frameshift NM_001408464.1:c.2050_2111del62 NP_001395393.1:p.Arg684Thrfs frameshift NM_001408465.1:c.2050_2111del62 NP_001395394.1:p.Arg684Thrfs frameshift NM_001408466.1:c.2050_2111del62 NP_001395395.1:p.Arg684Thrfs frameshift NM_001408467.1:c.2050_2111del62 NP_001395396.1:p.Arg684Thrfs frameshift NM_001408468.1:c.2047_2108del62 NP_001395397.1:p.Arg683Thrfs frameshift NM_001408469.1:c.2047_2108del62 NP_001395398.1:p.Arg683Thrfs frameshift NM_001408470.1:c.2047_2108del62 NP_001395399.1:p.Arg683Thrfs frameshift NM_001408472.1:c.*17_*78del62 NM_001408473.1:c.*17_*78del62 NM_001408474.1:c.1993_2054del62 NP_001395403.1:p.Arg665Thrfs frameshift NM_001408475.1:c.1990_2051del62 NP_001395404.1:p.Arg664Thrfs frameshift NM_001408476.1:c.1990_2051del62 NP_001395405.1:p.Arg664Thrfs frameshift NM_001408478.1:c.1984_2045del62 NP_001395407.1:p.Arg662Thrfs frameshift NM_001408479.1:c.1984_2045del62 NP_001395408.1:p.Arg662Thrfs frameshift NM_001408480.1:c.1984_2045del62 NP_001395409.1:p.Arg662Thrfs frameshift NM_001408481.1:c.1981_2042del62 NP_001395410.1:p.Arg661Thrfs frameshift NM_001408482.1:c.1981_2042del62 NP_001395411.1:p.Arg661Thrfs frameshift NM_001408483.1:c.1981_2042del62 NP_001395412.1:p.Arg661Thrfs frameshift NM_001408484.1:c.1981_2042del62 NP_001395413.1:p.Arg661Thrfs frameshift NM_001408485.1:c.1981_2042del62 NP_001395414.1:p.Arg661Thrfs frameshift NM_001408489.1:c.1981_2042del62 NP_001395418.1:p.Arg661Thrfs frameshift NM_001408490.1:c.1981_2042del62 NP_001395419.1:p.Arg661Thrfs frameshift NM_001408491.1:c.1981_2042del62 NP_001395420.1:p.Arg661Thrfs frameshift NM_001408492.1:c.1978_2039del62 NP_001395421.1:p.Arg660Thrfs frameshift NM_001408493.1:c.1978_2039del62 NP_001395422.1:p.Arg660Thrfs frameshift NM_001408494.1:c.1954_2015del62 NP_001395423.1:p.Arg652Thrfs frameshift NM_001408495.1:c.1948_2009del62 NP_001395424.1:p.Arg650Thrfs frameshift NM_001408496.1:c.1930_1991del62 NP_001395425.1:p.Arg644Thrfs frameshift NM_001408497.1:c.1930_1991del62 NP_001395426.1:p.Arg644Thrfs frameshift NM_001408498.1:c.1930_1991del62 NP_001395427.1:p.Arg644Thrfs frameshift NM_001408499.1:c.1930_1991del62 NP_001395428.1:p.Arg644Thrfs frameshift NM_001408500.1:c.1930_1991del62 NP_001395429.1:p.Arg644Thrfs frameshift NM_001408501.1:c.1930_1991del62 NP_001395430.1:p.Arg644Thrfs frameshift NM_001408502.1:c.1927_1988del62 NP_001395431.1:p.Arg643Thrfs frameshift NM_001408503.1:c.1927_1988del62 NP_001395432.1:p.Arg643Thrfs frameshift NM_001408504.1:c.1927_1988del62 NP_001395433.1:p.Arg643Thrfs frameshift NM_001408505.1:c.1924_1985del62 NP_001395434.1:p.Arg642Thrfs frameshift NM_001408506.1:c.1867_1928del62 NP_001395435.1:p.Arg623Thrfs frameshift NM_001408507.1:c.1864_1925del62 NP_001395436.1:p.Arg622Thrfs frameshift NM_001408508.1:c.1855_1916del62 NP_001395437.1:p.Arg619Thrfs frameshift NM_001408509.1:c.1852_1913del62 NP_001395438.1:p.Arg618Thrfs frameshift NM_001408510.1:c.1813_1874del62 NP_001395439.1:p.Arg605Thrfs frameshift NM_001408511.1:c.1810_1871del62 NP_001395440.1:p.Arg604Thrfs frameshift NM_001408512.1:c.1690_1751del62 NP_001395441.1:p.Arg564Thrfs frameshift NM_001408513.1:c.1663_1724del62 NP_001395442.1:p.Arg555Thrfs frameshift NM_001408514.1:c.1267_1328del62 NP_001395443.1:p.Arg423Thrfs frameshift NM_007297.4:c.5362_5423del NP_009228.2:p.Arg1788fs frameshift NM_007298.4:c.2191_2252del62 NP_009229.2:p.Arg731Thrfs frameshift NM_007299.4:c.*17_*78del 3 prime UTR NM_007300.4:c.5566_5627del NP_009231.2:p.Arg1856fs frameshift NM_007304.2:c.2191_2252del62 NP_009235.2:p.Arg731Thrfs frameshift NR_027676.2:n.5680_5741del non-coding transcript variant NC_000017.11:g.43045706_43045767del NC_000017.10:g.41197723_41197784del NG_005905.2:g.172217_172278del LRG_292:g.172217_172278del LRG_292t1:c.5503_5564del62 LRG_292p1:p.Arg1835Thrfs U14680.1:n.5622_5683del62 - Protein change
- R1856fs, R1835fs, R731fs, R1788fs
- Other names
- 5622del62
- 5622_5684del62
- Canonical SPDI
- -
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
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 |
12752 | 14513 |
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. |
---|---|---|---|---|
Pathogenic (3) |
reviewed by expert panel
|
Apr 22, 2016 | RCV000112684.6 |
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. |
|
---|---|---|---|---|---|
Pathogenic
(Apr 22, 2016)
|
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)
Accession: SCV000282344.1
First in ClinVar: Jun 24, 2016 Last updated: Jun 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000326343.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
Pathogenic
(Jun 22, 1998)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145552.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 2
Geographic origin: Netherlands
|
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs80359883 ...
HelpRecord last updated Mar 30, 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.