ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5503del (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.5503del (p.Arg1835fs)
Variation ID: 55603 Accession: VCV000055603.7
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045767 (GRCh38) [ NCBI UCSC ] 17: 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 Sep 24, 2016 Feb 14, 2024 Sep 8, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5503del 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.5288delC NP_001394500.1:p.Arg1764Glufs frameshift NM_001407581.1:c.5567delC NP_001394510.1:p.Arg1857Glufs frameshift NM_001407582.1:c.5567delC NP_001394511.1:p.Arg1857Glufs frameshift NM_001407583.1:c.5564delC NP_001394512.1:p.Arg1856Glufs frameshift NM_001407585.1:c.5564delC NP_001394514.1:p.Arg1856Glufs frameshift NM_001407587.1:c.5564delC NP_001394516.1:p.Arg1856Glufs frameshift NM_001407590.1:c.5561delC NP_001394519.1:p.Arg1855Glufs frameshift NM_001407591.1:c.5561delC NP_001394520.1:p.Arg1855Glufs frameshift NM_001407593.1:c.5501delC NP_001394522.1:p.Arg1835Glufs frameshift NM_001407594.1:c.5501delC NP_001394523.1:p.Arg1835Glufs frameshift NM_001407596.1:c.5501delC NP_001394525.1:p.Arg1835Glufs frameshift NM_001407597.1:c.5501delC NP_001394526.1:p.Arg1835Glufs frameshift NM_001407598.1:c.5501delC NP_001394527.1:p.Arg1835Glufs frameshift NM_001407602.1:c.5501delC NP_001394531.1:p.Arg1835Glufs frameshift NM_001407603.1:c.5501delC NP_001394532.1:p.Arg1835Glufs frameshift NM_001407605.1:c.5501delC NP_001394534.1:p.Arg1835Glufs frameshift NM_001407610.1:c.5498delC NP_001394539.1:p.Arg1834Glufs frameshift NM_001407611.1:c.5498delC NP_001394540.1:p.Arg1834Glufs frameshift NM_001407612.1:c.5498delC NP_001394541.1:p.Arg1834Glufs frameshift NM_001407613.1:c.5498delC NP_001394542.1:p.Arg1834Glufs frameshift NM_001407614.1:c.5498delC NP_001394543.1:p.Arg1834Glufs frameshift NM_001407615.1:c.5498delC NP_001394544.1:p.Arg1834Glufs frameshift NM_001407616.1:c.5498delC NP_001394545.1:p.Arg1834Glufs frameshift NM_001407617.1:c.5498delC NP_001394546.1:p.Arg1834Glufs frameshift NM_001407618.1:c.5498delC NP_001394547.1:p.Arg1834Glufs frameshift NM_001407619.1:c.5498delC NP_001394548.1:p.Arg1834Glufs frameshift NM_001407620.1:c.5498delC NP_001394549.1:p.Arg1834Glufs frameshift NM_001407621.1:c.5498delC NP_001394550.1:p.Arg1834Glufs frameshift NM_001407622.1:c.5498delC NP_001394551.1:p.Arg1834Glufs frameshift NM_001407623.1:c.5498delC NP_001394552.1:p.Arg1834Glufs frameshift NM_001407624.1:c.5498delC NP_001394553.1:p.Arg1834Glufs frameshift NM_001407625.1:c.5498delC NP_001394554.1:p.Arg1834Glufs frameshift NM_001407626.1:c.5498delC NP_001394555.1:p.Arg1834Glufs frameshift NM_001407627.1:c.5495delC NP_001394556.1:p.Arg1833Glufs frameshift NM_001407628.1:c.5495delC NP_001394557.1:p.Arg1833Glufs frameshift NM_001407629.1:c.5495delC NP_001394558.1:p.Arg1833Glufs frameshift NM_001407630.1:c.5495delC NP_001394559.1:p.Arg1833Glufs frameshift NM_001407631.1:c.5495delC NP_001394560.1:p.Arg1833Glufs frameshift NM_001407632.1:c.5495delC NP_001394561.1:p.Arg1833Glufs frameshift NM_001407633.1:c.5495delC NP_001394562.1:p.Arg1833Glufs frameshift NM_001407634.1:c.5495delC NP_001394563.1:p.Arg1833Glufs frameshift NM_001407635.1:c.5495delC NP_001394564.1:p.Arg1833Glufs frameshift NM_001407636.1:c.5495delC NP_001394565.1:p.Arg1833Glufs frameshift NM_001407637.1:c.5495delC NP_001394566.1:p.Arg1833Glufs frameshift NM_001407638.1:c.5495delC NP_001394567.1:p.Arg1833Glufs frameshift NM_001407639.1:c.5495delC NP_001394568.1:p.Arg1833Glufs frameshift NM_001407640.1:c.5495delC NP_001394569.1:p.Arg1833Glufs frameshift NM_001407641.1:c.5495delC NP_001394570.1:p.Arg1833Glufs frameshift NM_001407642.1:c.5495delC NP_001394571.1:p.Arg1833Glufs frameshift NM_001407644.1:c.5492delC NP_001394573.1:p.Arg1832Glufs frameshift NM_001407645.1:c.5492delC NP_001394574.1:p.Arg1832Glufs frameshift NM_001407646.1:c.5489delC NP_001394575.1:p.Arg1831Glufs frameshift NM_001407647.1:c.5486delC NP_001394576.1:p.Arg1830Glufs frameshift NM_001407648.1:c.5444delC NP_001394577.1:p.Arg1816Glufs frameshift NM_001407649.1:c.5441delC NP_001394578.1:p.Arg1815Glufs frameshift NM_001407652.1:c.5423delC NP_001394581.1:p.Arg1809Glufs frameshift NM_001407653.1:c.5423delC NP_001394582.1:p.Arg1809Glufs frameshift NM_001407654.1:c.5423delC NP_001394583.1:p.Arg1809Glufs frameshift NM_001407655.1:c.5423delC NP_001394584.1:p.Arg1809Glufs frameshift NM_001407656.1:c.5420delC NP_001394585.1:p.Arg1808Glufs frameshift NM_001407657.1:c.5420delC NP_001394586.1:p.Arg1808Glufs frameshift NM_001407658.1:c.5420delC NP_001394587.1:p.Arg1808Glufs frameshift NM_001407659.1:c.5417delC NP_001394588.1:p.Arg1807Glufs frameshift NM_001407660.1:c.5417delC NP_001394589.1:p.Arg1807Glufs frameshift NM_001407661.1:c.5417delC NP_001394590.1:p.Arg1807Glufs frameshift NM_001407662.1:c.5417delC NP_001394591.1:p.Arg1807Glufs frameshift NM_001407663.1:c.5417delC NP_001394592.1:p.Arg1807Glufs frameshift NM_001407664.1:c.5378delC NP_001394593.1:p.Arg1794Glufs frameshift NM_001407665.1:c.5378delC NP_001394594.1:p.Arg1794Glufs frameshift NM_001407666.1:c.5378delC NP_001394595.1:p.Arg1794Glufs frameshift NM_001407667.1:c.5378delC NP_001394596.1:p.Arg1794Glufs frameshift NM_001407668.1:c.5378delC NP_001394597.1:p.Arg1794Glufs frameshift NM_001407669.1:c.5378delC NP_001394598.1:p.Arg1794Glufs frameshift NM_001407670.1:c.5375delC NP_001394599.1:p.Arg1793Glufs frameshift NM_001407671.1:c.5375delC NP_001394600.1:p.Arg1793Glufs frameshift NM_001407672.1:c.5375delC NP_001394601.1:p.Arg1793Glufs frameshift NM_001407673.1:c.5375delC NP_001394602.1:p.Arg1793Glufs frameshift NM_001407674.1:c.5375delC NP_001394603.1:p.Arg1793Glufs frameshift NM_001407675.1:c.5375delC NP_001394604.1:p.Arg1793Glufs frameshift NM_001407676.1:c.5375delC NP_001394605.1:p.Arg1793Glufs frameshift NM_001407677.1:c.5375delC NP_001394606.1:p.Arg1793Glufs frameshift NM_001407678.1:c.5375delC NP_001394607.1:p.Arg1793Glufs frameshift NM_001407679.1:c.5375delC NP_001394608.1:p.Arg1793Glufs frameshift NM_001407680.1:c.5375delC NP_001394609.1:p.Arg1793Glufs frameshift NM_001407681.1:c.5372delC NP_001394610.1:p.Arg1792Glufs frameshift NM_001407682.1:c.5372delC NP_001394611.1:p.Arg1792Glufs frameshift NM_001407683.1:c.5372delC NP_001394612.1:p.Arg1792Glufs frameshift NM_001407684.1:c.5372delC NP_001394613.1:p.Arg1792Glufs frameshift NM_001407685.1:c.5372delC NP_001394614.1:p.Arg1792Glufs frameshift NM_001407686.1:c.5372delC NP_001394615.1:p.Arg1792Glufs frameshift NM_001407687.1:c.5372delC NP_001394616.1:p.Arg1792Glufs frameshift NM_001407688.1:c.5372delC NP_001394617.1:p.Arg1792Glufs frameshift NM_001407689.1:c.5372delC NP_001394618.1:p.Arg1792Glufs frameshift NM_001407690.1:c.5369delC NP_001394619.1:p.Arg1791Glufs frameshift NM_001407691.1:c.5369delC NP_001394620.1:p.Arg1791Glufs frameshift NM_001407692.1:c.5360delC NP_001394621.1:p.Arg1788Glufs frameshift NM_001407694.1:c.5360delC NP_001394623.1:p.Arg1788Glufs frameshift NM_001407695.1:c.5360delC NP_001394624.1:p.Arg1788Glufs frameshift NM_001407696.1:c.5360delC NP_001394625.1:p.Arg1788Glufs frameshift NM_001407697.1:c.5360delC NP_001394626.1:p.Arg1788Glufs frameshift NM_001407698.1:c.5360delC NP_001394627.1:p.Arg1788Glufs frameshift NM_001407724.1:c.5360delC NP_001394653.1:p.Arg1788Glufs frameshift NM_001407725.1:c.5360delC NP_001394654.1:p.Arg1788Glufs frameshift NM_001407726.1:c.5360delC NP_001394655.1:p.Arg1788Glufs frameshift NM_001407727.1:c.5360delC NP_001394656.1:p.Arg1788Glufs frameshift NM_001407728.1:c.5360delC NP_001394657.1:p.Arg1788Glufs frameshift NM_001407729.1:c.5360delC NP_001394658.1:p.Arg1788Glufs frameshift NM_001407730.1:c.5360delC NP_001394659.1:p.Arg1788Glufs frameshift NM_001407731.1:c.5360delC NP_001394660.1:p.Arg1788Glufs frameshift NM_001407732.1:c.5357delC NP_001394661.1:p.Arg1787Glufs frameshift NM_001407733.1:c.5357delC NP_001394662.1:p.Arg1787Glufs frameshift NM_001407734.1:c.5357delC NP_001394663.1:p.Arg1787Glufs frameshift NM_001407735.1:c.5357delC NP_001394664.1:p.Arg1787Glufs frameshift NM_001407736.1:c.5357delC NP_001394665.1:p.Arg1787Glufs frameshift NM_001407737.1:c.5357delC NP_001394666.1:p.Arg1787Glufs frameshift NM_001407738.1:c.5357delC NP_001394667.1:p.Arg1787Glufs frameshift NM_001407739.1:c.5357delC NP_001394668.1:p.Arg1787Glufs frameshift NM_001407740.1:c.5357delC NP_001394669.1:p.Arg1787Glufs frameshift NM_001407741.1:c.5357delC NP_001394670.1:p.Arg1787Glufs frameshift NM_001407742.1:c.5357delC NP_001394671.1:p.Arg1787Glufs frameshift NM_001407743.1:c.5357delC NP_001394672.1:p.Arg1787Glufs frameshift NM_001407744.1:c.5357delC NP_001394673.1:p.Arg1787Glufs frameshift NM_001407745.1:c.5357delC NP_001394674.1:p.Arg1787Glufs frameshift NM_001407746.1:c.5357delC NP_001394675.1:p.Arg1787Glufs frameshift NM_001407747.1:c.5357delC NP_001394676.1:p.Arg1787Glufs frameshift NM_001407748.1:c.5357delC NP_001394677.1:p.Arg1787Glufs frameshift NM_001407749.1:c.5357delC NP_001394678.1:p.Arg1787Glufs frameshift NM_001407750.1:c.5357delC NP_001394679.1:p.Arg1787Glufs frameshift NM_001407751.1:c.5357delC NP_001394680.1:p.Arg1787Glufs frameshift NM_001407752.1:c.5357delC NP_001394681.1:p.Arg1787Glufs frameshift NM_001407838.1:c.5354delC NP_001394767.1:p.Arg1786Glufs frameshift NM_001407839.1:c.5354delC NP_001394768.1:p.Arg1786Glufs frameshift NM_001407841.1:c.5354delC NP_001394770.1:p.Arg1786Glufs frameshift NM_001407842.1:c.5354delC NP_001394771.1:p.Arg1786Glufs frameshift NM_001407843.1:c.5354delC NP_001394772.1:p.Arg1786Glufs frameshift NM_001407844.1:c.5354delC NP_001394773.1:p.Arg1786Glufs frameshift NM_001407845.1:c.5354delC NP_001394774.1:p.Arg1786Glufs frameshift NM_001407846.1:c.5354delC NP_001394775.1:p.Arg1786Glufs frameshift NM_001407847.1:c.5354delC NP_001394776.1:p.Arg1786Glufs frameshift NM_001407848.1:c.5354delC NP_001394777.1:p.Arg1786Glufs frameshift NM_001407849.1:c.5354delC NP_001394778.1:p.Arg1786Glufs frameshift NM_001407850.1:c.5354delC NP_001394779.1:p.Arg1786Glufs frameshift NM_001407851.1:c.5354delC NP_001394780.1:p.Arg1786Glufs frameshift NM_001407852.1:c.5354delC NP_001394781.1:p.Arg1786Glufs frameshift NM_001407853.1:c.5354delC NP_001394782.1:p.Arg1786Glufs frameshift NM_001407854.1:c.*15delC NM_001407858.1:c.*15delC NM_001407859.1:c.*15delC NM_001407860.1:c.*15delC NM_001407861.1:c.*15delC NM_001407862.1:c.5300delC NP_001394791.1:p.Arg1768Glufs frameshift NM_001407863.1:c.5297delC NP_001394792.1:p.Arg1767Glufs frameshift NM_001407874.1:c.5294delC NP_001394803.1:p.Arg1766Glufs frameshift NM_001407875.1:c.5294delC NP_001394804.1:p.Arg1766Glufs frameshift NM_001407879.1:c.5291delC NP_001394808.1:p.Arg1765Glufs frameshift NM_001407881.1:c.5291delC NP_001394810.1:p.Arg1765Glufs frameshift NM_001407882.1:c.5291delC NP_001394811.1:p.Arg1765Glufs frameshift NM_001407884.1:c.5291delC NP_001394813.1:p.Arg1765Glufs frameshift NM_001407885.1:c.5291delC NP_001394814.1:p.Arg1765Glufs frameshift NM_001407886.1:c.5291delC NP_001394815.1:p.Arg1765Glufs frameshift NM_001407887.1:c.5291delC NP_001394816.1:p.Arg1765Glufs frameshift NM_001407889.1:c.5291delC NP_001394818.1:p.Arg1765Glufs frameshift NM_001407894.1:c.5288delC NP_001394823.1:p.Arg1764Glufs frameshift NM_001407895.1:c.5288delC NP_001394824.1:p.Arg1764Glufs frameshift NM_001407896.1:c.5288delC NP_001394825.1:p.Arg1764Glufs frameshift NM_001407897.1:c.5288delC NP_001394826.1:p.Arg1764Glufs frameshift NM_001407898.1:c.5288delC NP_001394827.1:p.Arg1764Glufs frameshift NM_001407899.1:c.5288delC NP_001394828.1:p.Arg1764Glufs frameshift NM_001407900.1:c.5288delC NP_001394829.1:p.Arg1764Glufs frameshift NM_001407902.1:c.5288delC NP_001394831.1:p.Arg1764Glufs frameshift NM_001407904.1:c.5288delC NP_001394833.1:p.Arg1764Glufs frameshift NM_001407906.1:c.5288delC NP_001394835.1:p.Arg1764Glufs frameshift NM_001407907.1:c.5288delC NP_001394836.1:p.Arg1764Glufs frameshift NM_001407908.1:c.5288delC NP_001394837.1:p.Arg1764Glufs frameshift NM_001407909.1:c.5288delC NP_001394838.1:p.Arg1764Glufs frameshift NM_001407910.1:c.5288delC NP_001394839.1:p.Arg1764Glufs frameshift NM_001407915.1:c.5285delC NP_001394844.1:p.Arg1763Glufs frameshift NM_001407916.1:c.5285delC NP_001394845.1:p.Arg1763Glufs frameshift NM_001407917.1:c.5285delC NP_001394846.1:p.Arg1763Glufs frameshift NM_001407918.1:c.5285delC NP_001394847.1:p.Arg1763Glufs frameshift NM_001407919.1:c.5249delC NP_001394848.1:p.Arg1751Glufs frameshift NM_001407920.1:c.5237delC NP_001394849.1:p.Arg1747Glufs frameshift NM_001407921.1:c.5237delC NP_001394850.1:p.Arg1747Glufs frameshift NM_001407922.1:c.5237delC NP_001394851.1:p.Arg1747Glufs frameshift NM_001407923.1:c.5237delC NP_001394852.1:p.Arg1747Glufs frameshift NM_001407924.1:c.5237delC NP_001394853.1:p.Arg1747Glufs frameshift NM_001407925.1:c.5237delC NP_001394854.1:p.Arg1747Glufs frameshift NM_001407926.1:c.5237delC NP_001394855.1:p.Arg1747Glufs frameshift NM_001407927.1:c.5234delC NP_001394856.1:p.Arg1746Glufs frameshift NM_001407928.1:c.5234delC NP_001394857.1:p.Arg1746Glufs frameshift NM_001407929.1:c.5234delC NP_001394858.1:p.Arg1746Glufs frameshift NM_001407930.1:c.5234delC NP_001394859.1:p.Arg1746Glufs frameshift NM_001407931.1:c.5234delC NP_001394860.1:p.Arg1746Glufs frameshift NM_001407932.1:c.5234delC NP_001394861.1:p.Arg1746Glufs frameshift NM_001407933.1:c.5234delC NP_001394862.1:p.Arg1746Glufs frameshift NM_001407934.1:c.5231delC NP_001394863.1:p.Arg1745Glufs frameshift NM_001407935.1:c.5231delC NP_001394864.1:p.Arg1745Glufs frameshift NM_001407936.1:c.5231delC NP_001394865.1:p.Arg1745Glufs frameshift NM_001407937.1:c.*15delC NM_001407938.1:c.*15delC NM_001407939.1:c.*15delC NM_001407940.1:c.*15delC NM_001407941.1:c.*15delC NM_001407942.1:c.*15delC NM_001407943.1:c.*15delC NM_001407944.1:c.*15delC NM_001407945.1:c.*15delC NM_001407946.1:c.5168delC NP_001394875.1:p.Arg1724Glufs frameshift NM_001407947.1:c.5168delC NP_001394876.1:p.Arg1724Glufs frameshift NM_001407948.1:c.5168delC NP_001394877.1:p.Arg1724Glufs frameshift NM_001407949.1:c.5168delC NP_001394878.1:p.Arg1724Glufs frameshift NM_001407950.1:c.5165delC NP_001394879.1:p.Arg1723Glufs frameshift NM_001407951.1:c.5165delC NP_001394880.1:p.Arg1723Glufs frameshift NM_001407952.1:c.5165delC NP_001394881.1:p.Arg1723Glufs frameshift NM_001407953.1:c.5165delC NP_001394882.1:p.Arg1723Glufs frameshift NM_001407954.1:c.5165delC NP_001394883.1:p.Arg1723Glufs frameshift NM_001407955.1:c.5165delC NP_001394884.1:p.Arg1723Glufs frameshift NM_001407956.1:c.5162delC NP_001394885.1:p.Arg1722Glufs frameshift NM_001407957.1:c.5162delC NP_001394886.1:p.Arg1722Glufs frameshift NM_001407958.1:c.5162delC NP_001394887.1:p.Arg1722Glufs frameshift NM_001407959.1:c.5120delC NP_001394888.1:p.Arg1708Glufs frameshift NM_001407960.1:c.5117delC NP_001394889.1:p.Arg1707Glufs frameshift NM_001407962.1:c.5117delC NP_001394891.1:p.Arg1707Glufs frameshift NM_001407963.1:c.5114delC NP_001394892.1:p.Arg1706Glufs frameshift NM_001407964.1:c.5039delC NP_001394893.1:p.Arg1681Glufs frameshift NM_001407965.1:c.4994delC NP_001394894.1:p.Arg1666Glufs frameshift NM_001407966.1:c.4613delC NP_001394895.1:p.Arg1539Glufs frameshift NM_001407967.1:c.4610delC NP_001394896.1:p.Arg1538Glufs frameshift NM_001407968.1:c.2897delC NP_001394897.1:p.Arg967Glufs frameshift NM_001407969.1:c.2894delC NP_001394898.1:p.Arg966Glufs frameshift NM_001407970.1:c.2258delC NP_001394899.1:p.Arg754Glufs frameshift NM_001407971.1:c.2258delC NP_001394900.1:p.Arg754Glufs frameshift NM_001407972.1:c.2255delC NP_001394901.1:p.Arg753Glufs frameshift NM_001407973.1:c.2192delC NP_001394902.1:p.Arg732Glufs frameshift NM_001407974.1:c.2192delC NP_001394903.1:p.Arg732Glufs frameshift NM_001407975.1:c.2192delC NP_001394904.1:p.Arg732Glufs frameshift NM_001407976.1:c.2192delC NP_001394905.1:p.Arg732Glufs frameshift NM_001407977.1:c.2192delC NP_001394906.1:p.Arg732Glufs frameshift NM_001407978.1:c.2192delC NP_001394907.1:p.Arg732Glufs frameshift NM_001407979.1:c.2189delC NP_001394908.1:p.Arg731Glufs frameshift NM_001407980.1:c.2189delC NP_001394909.1:p.Arg731Glufs frameshift NM_001407981.1:c.2189delC NP_001394910.1:p.Arg731Glufs frameshift NM_001407982.1:c.2189delC NP_001394911.1:p.Arg731Glufs frameshift NM_001407983.1:c.2189delC NP_001394912.1:p.Arg731Glufs frameshift NM_001407984.1:c.2189delC NP_001394913.1:p.Arg731Glufs frameshift NM_001407985.1:c.2189delC NP_001394914.1:p.Arg731Glufs frameshift NM_001407986.1:c.2189delC NP_001394915.1:p.Arg731Glufs frameshift NM_001407990.1:c.2189delC NP_001394919.1:p.Arg731Glufs frameshift NM_001407991.1:c.2189delC NP_001394920.1:p.Arg731Glufs frameshift NM_001407992.1:c.2189delC NP_001394921.1:p.Arg731Glufs frameshift NM_001407993.1:c.2189delC NP_001394922.1:p.Arg731Glufs frameshift NM_001408392.1:c.2186delC NP_001395321.1:p.Arg730Glufs frameshift NM_001408396.1:c.2186delC NP_001395325.1:p.Arg730Glufs frameshift NM_001408397.1:c.2186delC NP_001395326.1:p.Arg730Glufs frameshift NM_001408398.1:c.2186delC NP_001395327.1:p.Arg730Glufs frameshift NM_001408399.1:c.2186delC NP_001395328.1:p.Arg730Glufs frameshift NM_001408400.1:c.2186delC NP_001395329.1:p.Arg730Glufs frameshift NM_001408401.1:c.2186delC NP_001395330.1:p.Arg730Glufs frameshift NM_001408402.1:c.2186delC NP_001395331.1:p.Arg730Glufs frameshift NM_001408403.1:c.2186delC NP_001395332.1:p.Arg730Glufs frameshift NM_001408404.1:c.2186delC NP_001395333.1:p.Arg730Glufs frameshift NM_001408406.1:c.2183delC NP_001395335.1:p.Arg729Glufs frameshift NM_001408407.1:c.2183delC NP_001395336.1:p.Arg729Glufs frameshift NM_001408408.1:c.2183delC NP_001395337.1:p.Arg729Glufs frameshift NM_001408409.1:c.2180delC NP_001395338.1:p.Arg728Glufs frameshift NM_001408410.1:c.2117delC NP_001395339.1:p.Arg707Glufs frameshift NM_001408411.1:c.2114delC NP_001395340.1:p.Arg706Glufs frameshift NM_001408412.1:c.2111delC NP_001395341.1:p.Arg705Glufs frameshift NM_001408413.1:c.2111delC NP_001395342.1:p.Arg705Glufs frameshift NM_001408414.1:c.2111delC NP_001395343.1:p.Arg705Glufs frameshift NM_001408415.1:c.2111delC NP_001395344.1:p.Arg705Glufs frameshift NM_001408416.1:c.2111delC NP_001395345.1:p.Arg705Glufs frameshift NM_001408418.1:c.2075delC NP_001395347.1:p.Arg693Glufs frameshift NM_001408419.1:c.2075delC NP_001395348.1:p.Arg693Glufs frameshift NM_001408420.1:c.2075delC NP_001395349.1:p.Arg693Glufs frameshift NM_001408421.1:c.2072delC NP_001395350.1:p.Arg692Glufs frameshift NM_001408422.1:c.2072delC NP_001395351.1:p.Arg692Glufs frameshift NM_001408423.1:c.2072delC NP_001395352.1:p.Arg692Glufs frameshift NM_001408424.1:c.2072delC NP_001395353.1:p.Arg692Glufs frameshift NM_001408425.1:c.2069delC NP_001395354.1:p.Arg691Glufs frameshift NM_001408426.1:c.2069delC NP_001395355.1:p.Arg691Glufs frameshift NM_001408427.1:c.2069delC NP_001395356.1:p.Arg691Glufs frameshift NM_001408428.1:c.2069delC NP_001395357.1:p.Arg691Glufs frameshift NM_001408429.1:c.2069delC NP_001395358.1:p.Arg691Glufs frameshift NM_001408430.1:c.2069delC NP_001395359.1:p.Arg691Glufs frameshift NM_001408431.1:c.2069delC NP_001395360.1:p.Arg691Glufs frameshift NM_001408432.1:c.2066delC NP_001395361.1:p.Arg690Glufs frameshift NM_001408433.1:c.2066delC NP_001395362.1:p.Arg690Glufs frameshift NM_001408434.1:c.2066delC NP_001395363.1:p.Arg690Glufs frameshift NM_001408435.1:c.2066delC NP_001395364.1:p.Arg690Glufs frameshift NM_001408436.1:c.2066delC NP_001395365.1:p.Arg690Glufs frameshift NM_001408437.1:c.2066delC NP_001395366.1:p.Arg690Glufs frameshift NM_001408438.1:c.2066delC NP_001395367.1:p.Arg690Glufs frameshift NM_001408439.1:c.2066delC NP_001395368.1:p.Arg690Glufs frameshift NM_001408440.1:c.2066delC NP_001395369.1:p.Arg690Glufs frameshift NM_001408441.1:c.2066delC NP_001395370.1:p.Arg690Glufs frameshift NM_001408442.1:c.2066delC NP_001395371.1:p.Arg690Glufs frameshift NM_001408443.1:c.2066delC NP_001395372.1:p.Arg690Glufs frameshift NM_001408444.1:c.2066delC NP_001395373.1:p.Arg690Glufs frameshift NM_001408445.1:c.2063delC NP_001395374.1:p.Arg689Glufs frameshift NM_001408446.1:c.2063delC NP_001395375.1:p.Arg689Glufs frameshift NM_001408447.1:c.2063delC NP_001395376.1:p.Arg689Glufs frameshift NM_001408448.1:c.2063delC NP_001395377.1:p.Arg689Glufs frameshift NM_001408450.1:c.2063delC NP_001395379.1:p.Arg689Glufs frameshift NM_001408451.1:c.2057delC NP_001395380.1:p.Arg687Glufs frameshift NM_001408452.1:c.2051delC NP_001395381.1:p.Arg685Glufs frameshift NM_001408453.1:c.2051delC NP_001395382.1:p.Arg685Glufs frameshift NM_001408454.1:c.2051delC NP_001395383.1:p.Arg685Glufs frameshift NM_001408455.1:c.2051delC NP_001395384.1:p.Arg685Glufs frameshift NM_001408456.1:c.2051delC NP_001395385.1:p.Arg685Glufs frameshift NM_001408457.1:c.2051delC NP_001395386.1:p.Arg685Glufs frameshift NM_001408458.1:c.2048delC NP_001395387.1:p.Arg684Glufs frameshift NM_001408459.1:c.2048delC NP_001395388.1:p.Arg684Glufs frameshift NM_001408460.1:c.2048delC NP_001395389.1:p.Arg684Glufs frameshift NM_001408461.1:c.2048delC NP_001395390.1:p.Arg684Glufs frameshift NM_001408462.1:c.2048delC NP_001395391.1:p.Arg684Glufs frameshift NM_001408463.1:c.2048delC NP_001395392.1:p.Arg684Glufs frameshift NM_001408464.1:c.2048delC NP_001395393.1:p.Arg684Glufs frameshift NM_001408465.1:c.2048delC NP_001395394.1:p.Arg684Glufs frameshift NM_001408466.1:c.2048delC NP_001395395.1:p.Arg684Glufs frameshift NM_001408467.1:c.2048delC NP_001395396.1:p.Arg684Glufs frameshift NM_001408468.1:c.2045delC NP_001395397.1:p.Arg683Glufs frameshift NM_001408469.1:c.2045delC NP_001395398.1:p.Arg683Glufs frameshift NM_001408470.1:c.2045delC NP_001395399.1:p.Arg683Glufs frameshift NM_001408472.1:c.*15delC NM_001408473.1:c.*15delC NM_001408474.1:c.1991delC NP_001395403.1:p.Arg665Glufs frameshift NM_001408475.1:c.1988delC NP_001395404.1:p.Arg664Glufs frameshift NM_001408476.1:c.1988delC NP_001395405.1:p.Arg664Glufs frameshift NM_001408478.1:c.1982delC NP_001395407.1:p.Arg662Glufs frameshift NM_001408479.1:c.1982delC NP_001395408.1:p.Arg662Glufs frameshift NM_001408480.1:c.1982delC NP_001395409.1:p.Arg662Glufs frameshift NM_001408481.1:c.1979delC NP_001395410.1:p.Arg661Glufs frameshift NM_001408482.1:c.1979delC NP_001395411.1:p.Arg661Glufs frameshift NM_001408483.1:c.1979delC NP_001395412.1:p.Arg661Glufs frameshift NM_001408484.1:c.1979delC NP_001395413.1:p.Arg661Glufs frameshift NM_001408485.1:c.1979delC NP_001395414.1:p.Arg661Glufs frameshift NM_001408489.1:c.1979delC NP_001395418.1:p.Arg661Glufs frameshift NM_001408490.1:c.1979delC NP_001395419.1:p.Arg661Glufs frameshift NM_001408491.1:c.1979delC NP_001395420.1:p.Arg661Glufs frameshift NM_001408492.1:c.1976delC NP_001395421.1:p.Arg660Glufs frameshift NM_001408493.1:c.1976delC NP_001395422.1:p.Arg660Glufs frameshift NM_001408494.1:c.1952delC NP_001395423.1:p.Arg652Glufs frameshift NM_001408495.1:c.1946delC NP_001395424.1:p.Arg650Glufs frameshift NM_001408496.1:c.1928delC NP_001395425.1:p.Arg644Glufs frameshift NM_001408497.1:c.1928delC NP_001395426.1:p.Arg644Glufs frameshift NM_001408498.1:c.1928delC NP_001395427.1:p.Arg644Glufs frameshift NM_001408499.1:c.1928delC NP_001395428.1:p.Arg644Glufs frameshift NM_001408500.1:c.1928delC NP_001395429.1:p.Arg644Glufs frameshift NM_001408501.1:c.1928delC NP_001395430.1:p.Arg644Glufs frameshift NM_001408502.1:c.1925delC NP_001395431.1:p.Arg643Glufs frameshift NM_001408503.1:c.1925delC NP_001395432.1:p.Arg643Glufs frameshift NM_001408504.1:c.1925delC NP_001395433.1:p.Arg643Glufs frameshift NM_001408505.1:c.1922delC NP_001395434.1:p.Arg642Glufs frameshift NM_001408506.1:c.1865delC NP_001395435.1:p.Arg623Glufs frameshift NM_001408507.1:c.1862delC NP_001395436.1:p.Arg622Glufs frameshift NM_001408508.1:c.1853delC NP_001395437.1:p.Arg619Glufs frameshift NM_001408509.1:c.1850delC NP_001395438.1:p.Arg618Glufs frameshift NM_001408510.1:c.1811delC NP_001395439.1:p.Arg605Glufs frameshift NM_001408511.1:c.1808delC NP_001395440.1:p.Arg604Glufs frameshift NM_001408512.1:c.1688delC NP_001395441.1:p.Arg564Glufs frameshift NM_001408513.1:c.1661delC NP_001395442.1:p.Arg555Glufs frameshift NM_001408514.1:c.1265delC NP_001395443.1:p.Arg423Glufs frameshift NM_007294.3:c.5503delC frameshift NM_007297.4:c.5362del NP_009228.2:p.Arg1788fs frameshift NM_007298.4:c.2189delC NP_009229.2:p.Arg731Glufs frameshift NM_007299.4:c.*17del 3 prime UTR NM_007300.4:c.5566del NP_009231.2:p.Arg1856fs frameshift NM_007304.2:c.2189delC NP_009235.2:p.Arg731Glufs frameshift NR_027676.2:n.5680del non-coding transcript variant NC_000017.11:g.43045769del NC_000017.10:g.41197786del NG_005905.2:g.172217del LRG_292:g.172217del LRG_292t1:c.5501del LRG_292p1:p.Arg1835Glufs - Protein change
- R1835fs, R1856fs, R1788fs, R731fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045766:GGG:GG
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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 |
12746 | 14510 |
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 (4) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000240969.15 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 18, 2023 | RCV003529973.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Sep 08, 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: SCV000300270.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(Aug 18, 2023)
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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: SCV004297783.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Arg1835Glufs*8) in the BRCA1 gene. While this is not anticipated to result in nonsense mediated decay, … (more)
This sequence change creates a premature translational stop signal (p.Arg1835Glufs*8) in the BRCA1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 29 amino acid(s) of the BRCA1 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with BRCA1-related conditions (PMID: 18704682). ClinVar contains an entry for this variant (Variation ID: 55603). This variant disrupts the C-terminal end of the BRCA1 protein partially including the BRCT domain (residues 1646-1859), which is important for DNA repair activity (PMID: 11573086, 14576433, 15133503, 25652403). While functional studies have not been performed to directly test the effect on BRCA1 protein function, this suggests that disruption of the C-terminal portion of the protein is functionally important. A different truncation (p.Tyr1853*) that lies downstream of this variant has been determined to be pathogenic (PMID: 21922593, 10811118, 11739404, 12400015, 7894493, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Sep 21, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000744580.1 First in ClinVar: Apr 19, 2018 Last updated: Apr 19, 2018 |
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Pathogenic
(Oct 02, 2015)
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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:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000326345.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733583.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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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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Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway. | Loke J | Human molecular genetics | 2015 | PMID: 25652403 |
Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast. | Millot GA | Human mutation | 2011 | PMID: 21922593 |
Prediction of BRCA1-association in hereditary non-BRCA1/2 breast carcinomas with array-CGH. | Joosse SA | Breast cancer research and treatment | 2009 | PMID: 18704682 |
Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1. | Williams RS | Nature structural & molecular biology | 2004 | PMID: 15133503 |
The BRCT domain is a phospho-protein binding domain. | Yu X | Science (New York, N.Y.) | 2003 | PMID: 14576433 |
Direct interaction between BRCA1 and the estrogen receptor regulates vascular endothelial growth factor (VEGF) transcription and secretion in breast cancer cells. | Kawai H | Oncogene | 2002 | PMID: 12400015 |
BRCA1-induced large-scale chromatin unfolding and allele-specific effects of cancer-predisposing mutations. | Ye Q | The Journal of cell biology | 2001 | PMID: 11739404 |
Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1. | Williams RS | Nature structural biology | 2001 | PMID: 11573086 |
Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation. | Hayes F | Cancer research | 2000 | PMID: 10811118 |
Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. | Friedman LS | Nature genetics | 1994 | PMID: 7894493 |
Text-mined citations for rs397509291 ...
HelpRecord last updated Mar 23, 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.