ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5551del (p.Asp1851fs)
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.5551del (p.Asp1851fs)
Variation ID: 266563 Accession: VCV000266563.6
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045719 (GRCh38) [ NCBI UCSC ] 17: 41197736 (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 Oct 22, 2016 Feb 7, 2023 Oct 18, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5551del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asp1851fs frameshift NM_001407571.1:c.5337delG NP_001394500.1:p.Asp1780Thrfs frameshift NM_001407581.1:c.5616delG NP_001394510.1:p.Asp1873Thrfs frameshift NM_001407582.1:c.5616delG NP_001394511.1:p.Asp1873Thrfs frameshift NM_001407583.1:c.5613delG NP_001394512.1:p.Asp1872Thrfs frameshift NM_001407585.1:c.5613delG NP_001394514.1:p.Asp1872Thrfs frameshift NM_001407587.1:c.5613delG NP_001394516.1:p.Asp1872Thrfs frameshift NM_001407590.1:c.5610delG NP_001394519.1:p.Asp1871Thrfs frameshift NM_001407591.1:c.5610delG NP_001394520.1:p.Asp1871Thrfs frameshift NM_001407593.1:c.5550delG NP_001394522.1:p.Asp1851Thrfs frameshift NM_001407594.1:c.5550delG NP_001394523.1:p.Asp1851Thrfs frameshift NM_001407596.1:c.5550delG NP_001394525.1:p.Asp1851Thrfs frameshift NM_001407597.1:c.5550delG NP_001394526.1:p.Asp1851Thrfs frameshift NM_001407598.1:c.5550delG NP_001394527.1:p.Asp1851Thrfs frameshift NM_001407602.1:c.5550delG NP_001394531.1:p.Asp1851Thrfs frameshift NM_001407603.1:c.5550delG NP_001394532.1:p.Asp1851Thrfs frameshift NM_001407605.1:c.5550delG NP_001394534.1:p.Asp1851Thrfs frameshift NM_001407610.1:c.5547delG NP_001394539.1:p.Asp1850Thrfs frameshift NM_001407611.1:c.5547delG NP_001394540.1:p.Asp1850Thrfs frameshift NM_001407612.1:c.5547delG NP_001394541.1:p.Asp1850Thrfs frameshift NM_001407613.1:c.5547delG NP_001394542.1:p.Asp1850Thrfs frameshift NM_001407614.1:c.5547delG NP_001394543.1:p.Asp1850Thrfs frameshift NM_001407615.1:c.5547delG NP_001394544.1:p.Asp1850Thrfs frameshift NM_001407616.1:c.5547delG NP_001394545.1:p.Asp1850Thrfs frameshift NM_001407617.1:c.5547delG NP_001394546.1:p.Asp1850Thrfs frameshift NM_001407618.1:c.5547delG NP_001394547.1:p.Asp1850Thrfs frameshift NM_001407619.1:c.5547delG NP_001394548.1:p.Asp1850Thrfs frameshift NM_001407620.1:c.5547delG NP_001394549.1:p.Asp1850Thrfs frameshift NM_001407621.1:c.5547delG NP_001394550.1:p.Asp1850Thrfs frameshift NM_001407622.1:c.5547delG NP_001394551.1:p.Asp1850Thrfs frameshift NM_001407623.1:c.5547delG NP_001394552.1:p.Asp1850Thrfs frameshift NM_001407624.1:c.5547delG NP_001394553.1:p.Asp1850Thrfs frameshift NM_001407625.1:c.5547delG NP_001394554.1:p.Asp1850Thrfs frameshift NM_001407626.1:c.5547delG NP_001394555.1:p.Asp1850Thrfs frameshift NM_001407627.1:c.5544delG NP_001394556.1:p.Asp1849Thrfs frameshift NM_001407628.1:c.5544delG NP_001394557.1:p.Asp1849Thrfs frameshift NM_001407629.1:c.5544delG NP_001394558.1:p.Asp1849Thrfs frameshift NM_001407630.1:c.5544delG NP_001394559.1:p.Asp1849Thrfs frameshift NM_001407631.1:c.5544delG NP_001394560.1:p.Asp1849Thrfs frameshift NM_001407632.1:c.5544delG NP_001394561.1:p.Asp1849Thrfs frameshift NM_001407633.1:c.5544delG NP_001394562.1:p.Asp1849Thrfs frameshift NM_001407634.1:c.5544delG NP_001394563.1:p.Asp1849Thrfs frameshift NM_001407635.1:c.5544delG NP_001394564.1:p.Asp1849Thrfs frameshift NM_001407636.1:c.5544delG NP_001394565.1:p.Asp1849Thrfs frameshift NM_001407637.1:c.5544delG NP_001394566.1:p.Asp1849Thrfs frameshift NM_001407638.1:c.5544delG NP_001394567.1:p.Asp1849Thrfs frameshift NM_001407639.1:c.5544delG NP_001394568.1:p.Asp1849Thrfs frameshift NM_001407640.1:c.5544delG NP_001394569.1:p.Asp1849Thrfs frameshift NM_001407641.1:c.5544delG NP_001394570.1:p.Asp1849Thrfs frameshift NM_001407642.1:c.5544delG NP_001394571.1:p.Asp1849Thrfs frameshift NM_001407644.1:c.5541delG NP_001394573.1:p.Asp1848Thrfs frameshift NM_001407645.1:c.5541delG NP_001394574.1:p.Asp1848Thrfs frameshift NM_001407646.1:c.5538delG NP_001394575.1:p.Asp1847Thrfs frameshift NM_001407647.1:c.5535delG NP_001394576.1:p.Asp1846Thrfs frameshift NM_001407648.1:c.5493delG NP_001394577.1:p.Asp1832Thrfs frameshift NM_001407649.1:c.5490delG NP_001394578.1:p.Asp1831Thrfs frameshift NM_001407652.1:c.5472delG NP_001394581.1:p.Asp1825Thrfs frameshift NM_001407653.1:c.5472delG NP_001394582.1:p.Asp1825Thrfs frameshift NM_001407654.1:c.5472delG NP_001394583.1:p.Asp1825Thrfs frameshift NM_001407655.1:c.5472delG NP_001394584.1:p.Asp1825Thrfs frameshift NM_001407656.1:c.5469delG NP_001394585.1:p.Asp1824Thrfs frameshift NM_001407657.1:c.5469delG NP_001394586.1:p.Asp1824Thrfs frameshift NM_001407658.1:c.5469delG NP_001394587.1:p.Asp1824Thrfs frameshift NM_001407659.1:c.5466delG NP_001394588.1:p.Asp1823Thrfs frameshift NM_001407660.1:c.5466delG NP_001394589.1:p.Asp1823Thrfs frameshift NM_001407661.1:c.5466delG NP_001394590.1:p.Asp1823Thrfs frameshift NM_001407662.1:c.5466delG NP_001394591.1:p.Asp1823Thrfs frameshift NM_001407663.1:c.5466delG NP_001394592.1:p.Asp1823Thrfs frameshift NM_001407664.1:c.5427delG NP_001394593.1:p.Asp1810Thrfs frameshift NM_001407665.1:c.5427delG NP_001394594.1:p.Asp1810Thrfs frameshift NM_001407666.1:c.5427delG NP_001394595.1:p.Asp1810Thrfs frameshift NM_001407667.1:c.5427delG NP_001394596.1:p.Asp1810Thrfs frameshift NM_001407668.1:c.5427delG NP_001394597.1:p.Asp1810Thrfs frameshift NM_001407669.1:c.5427delG NP_001394598.1:p.Asp1810Thrfs frameshift NM_001407670.1:c.5424delG NP_001394599.1:p.Asp1809Thrfs frameshift NM_001407671.1:c.5424delG NP_001394600.1:p.Asp1809Thrfs frameshift NM_001407672.1:c.5424delG NP_001394601.1:p.Asp1809Thrfs frameshift NM_001407673.1:c.5424delG NP_001394602.1:p.Asp1809Thrfs frameshift NM_001407674.1:c.5424delG NP_001394603.1:p.Asp1809Thrfs frameshift NM_001407675.1:c.5424delG NP_001394604.1:p.Asp1809Thrfs frameshift NM_001407676.1:c.5424delG NP_001394605.1:p.Asp1809Thrfs frameshift NM_001407677.1:c.5424delG NP_001394606.1:p.Asp1809Thrfs frameshift NM_001407678.1:c.5424delG NP_001394607.1:p.Asp1809Thrfs frameshift NM_001407679.1:c.5424delG NP_001394608.1:p.Asp1809Thrfs frameshift NM_001407680.1:c.5424delG NP_001394609.1:p.Asp1809Thrfs frameshift NM_001407681.1:c.5421delG NP_001394610.1:p.Asp1808Thrfs frameshift NM_001407682.1:c.5421delG NP_001394611.1:p.Asp1808Thrfs frameshift NM_001407683.1:c.5421delG NP_001394612.1:p.Asp1808Thrfs frameshift NM_001407684.1:c.5421delG NP_001394613.1:p.Asp1808Thrfs frameshift NM_001407685.1:c.5421delG NP_001394614.1:p.Asp1808Thrfs frameshift NM_001407686.1:c.5421delG NP_001394615.1:p.Asp1808Thrfs frameshift NM_001407687.1:c.5421delG NP_001394616.1:p.Asp1808Thrfs frameshift NM_001407688.1:c.5421delG NP_001394617.1:p.Asp1808Thrfs frameshift NM_001407689.1:c.5421delG NP_001394618.1:p.Asp1808Thrfs frameshift NM_001407690.1:c.5418delG NP_001394619.1:p.Asp1807Thrfs frameshift NM_001407691.1:c.5418delG NP_001394620.1:p.Asp1807Thrfs frameshift NM_001407692.1:c.5409delG NP_001394621.1:p.Asp1804Thrfs frameshift NM_001407694.1:c.5409delG NP_001394623.1:p.Asp1804Thrfs frameshift NM_001407695.1:c.5409delG NP_001394624.1:p.Asp1804Thrfs frameshift NM_001407696.1:c.5409delG NP_001394625.1:p.Asp1804Thrfs frameshift NM_001407697.1:c.5409delG NP_001394626.1:p.Asp1804Thrfs frameshift NM_001407698.1:c.5409delG NP_001394627.1:p.Asp1804Thrfs frameshift NM_001407724.1:c.5409delG NP_001394653.1:p.Asp1804Thrfs frameshift NM_001407725.1:c.5409delG NP_001394654.1:p.Asp1804Thrfs frameshift NM_001407726.1:c.5409delG NP_001394655.1:p.Asp1804Thrfs frameshift NM_001407727.1:c.5409delG NP_001394656.1:p.Asp1804Thrfs frameshift NM_001407728.1:c.5409delG NP_001394657.1:p.Asp1804Thrfs frameshift NM_001407729.1:c.5409delG NP_001394658.1:p.Asp1804Thrfs frameshift NM_001407730.1:c.5409delG NP_001394659.1:p.Asp1804Thrfs frameshift NM_001407731.1:c.5409delG NP_001394660.1:p.Asp1804Thrfs frameshift NM_001407732.1:c.5406delG NP_001394661.1:p.Asp1803Thrfs frameshift NM_001407733.1:c.5406delG NP_001394662.1:p.Asp1803Thrfs frameshift NM_001407734.1:c.5406delG NP_001394663.1:p.Asp1803Thrfs frameshift NM_001407735.1:c.5406delG NP_001394664.1:p.Asp1803Thrfs frameshift NM_001407736.1:c.5406delG NP_001394665.1:p.Asp1803Thrfs frameshift NM_001407737.1:c.5406delG NP_001394666.1:p.Asp1803Thrfs frameshift NM_001407738.1:c.5406delG NP_001394667.1:p.Asp1803Thrfs frameshift NM_001407739.1:c.5406delG NP_001394668.1:p.Asp1803Thrfs frameshift NM_001407740.1:c.5406delG NP_001394669.1:p.Asp1803Thrfs frameshift NM_001407741.1:c.5406delG NP_001394670.1:p.Asp1803Thrfs frameshift NM_001407742.1:c.5406delG NP_001394671.1:p.Asp1803Thrfs frameshift NM_001407743.1:c.5406delG NP_001394672.1:p.Asp1803Thrfs frameshift NM_001407744.1:c.5406delG NP_001394673.1:p.Asp1803Thrfs frameshift NM_001407745.1:c.5406delG NP_001394674.1:p.Asp1803Thrfs frameshift NM_001407746.1:c.5406delG NP_001394675.1:p.Asp1803Thrfs frameshift NM_001407747.1:c.5406delG NP_001394676.1:p.Asp1803Thrfs frameshift NM_001407748.1:c.5406delG NP_001394677.1:p.Asp1803Thrfs frameshift NM_001407749.1:c.5406delG NP_001394678.1:p.Asp1803Thrfs frameshift NM_001407750.1:c.5406delG NP_001394679.1:p.Asp1803Thrfs frameshift NM_001407751.1:c.5406delG NP_001394680.1:p.Asp1803Thrfs frameshift NM_001407752.1:c.5406delG NP_001394681.1:p.Asp1803Thrfs frameshift NM_001407838.1:c.5403delG NP_001394767.1:p.Asp1802Thrfs frameshift NM_001407839.1:c.5403delG NP_001394768.1:p.Asp1802Thrfs frameshift NM_001407841.1:c.5403delG NP_001394770.1:p.Asp1802Thrfs frameshift NM_001407842.1:c.5403delG NP_001394771.1:p.Asp1802Thrfs frameshift NM_001407843.1:c.5403delG NP_001394772.1:p.Asp1802Thrfs frameshift NM_001407844.1:c.5403delG NP_001394773.1:p.Asp1802Thrfs frameshift NM_001407845.1:c.5403delG NP_001394774.1:p.Asp1802Thrfs frameshift NM_001407846.1:c.5403delG NP_001394775.1:p.Asp1802Thrfs frameshift NM_001407847.1:c.5403delG NP_001394776.1:p.Asp1802Thrfs frameshift NM_001407848.1:c.5403delG NP_001394777.1:p.Asp1802Thrfs frameshift NM_001407849.1:c.5403delG NP_001394778.1:p.Asp1802Thrfs frameshift NM_001407850.1:c.5403delG NP_001394779.1:p.Asp1802Thrfs frameshift NM_001407851.1:c.5403delG NP_001394780.1:p.Asp1802Thrfs frameshift NM_001407852.1:c.5403delG NP_001394781.1:p.Asp1802Thrfs frameshift NM_001407853.1:c.5403delG NP_001394782.1:p.Asp1802Thrfs frameshift NM_001407854.1:c.*64delG NM_001407858.1:c.*64delG NM_001407859.1:c.*64delG NM_001407860.1:c.*64delG NM_001407861.1:c.*64delG NM_001407862.1:c.5349delG NP_001394791.1:p.Asp1784Thrfs frameshift NM_001407863.1:c.5346delG NP_001394792.1:p.Asp1783Thrfs frameshift NM_001407874.1:c.5343delG NP_001394803.1:p.Asp1782Thrfs frameshift NM_001407875.1:c.5343delG NP_001394804.1:p.Asp1782Thrfs frameshift NM_001407879.1:c.5340delG NP_001394808.1:p.Asp1781Thrfs frameshift NM_001407881.1:c.5340delG NP_001394810.1:p.Asp1781Thrfs frameshift NM_001407882.1:c.5340delG NP_001394811.1:p.Asp1781Thrfs frameshift NM_001407884.1:c.5340delG NP_001394813.1:p.Asp1781Thrfs frameshift NM_001407885.1:c.5340delG NP_001394814.1:p.Asp1781Thrfs frameshift NM_001407886.1:c.5340delG NP_001394815.1:p.Asp1781Thrfs frameshift NM_001407887.1:c.5340delG NP_001394816.1:p.Asp1781Thrfs frameshift NM_001407889.1:c.5340delG NP_001394818.1:p.Asp1781Thrfs frameshift NM_001407894.1:c.5337delG NP_001394823.1:p.Asp1780Thrfs frameshift NM_001407895.1:c.5337delG NP_001394824.1:p.Asp1780Thrfs frameshift NM_001407896.1:c.5337delG NP_001394825.1:p.Asp1780Thrfs frameshift NM_001407897.1:c.5337delG NP_001394826.1:p.Asp1780Thrfs frameshift NM_001407898.1:c.5337delG NP_001394827.1:p.Asp1780Thrfs frameshift NM_001407899.1:c.5337delG NP_001394828.1:p.Asp1780Thrfs frameshift NM_001407900.1:c.5337delG NP_001394829.1:p.Asp1780Thrfs frameshift NM_001407902.1:c.5337delG NP_001394831.1:p.Asp1780Thrfs frameshift NM_001407904.1:c.5337delG NP_001394833.1:p.Asp1780Thrfs frameshift NM_001407906.1:c.5337delG NP_001394835.1:p.Asp1780Thrfs frameshift NM_001407907.1:c.5337delG NP_001394836.1:p.Asp1780Thrfs frameshift NM_001407908.1:c.5337delG NP_001394837.1:p.Asp1780Thrfs frameshift NM_001407909.1:c.5337delG NP_001394838.1:p.Asp1780Thrfs frameshift NM_001407910.1:c.5337delG NP_001394839.1:p.Asp1780Thrfs frameshift NM_001407915.1:c.5334delG NP_001394844.1:p.Asp1779Thrfs frameshift NM_001407916.1:c.5334delG NP_001394845.1:p.Asp1779Thrfs frameshift NM_001407917.1:c.5334delG NP_001394846.1:p.Asp1779Thrfs frameshift NM_001407918.1:c.5334delG NP_001394847.1:p.Asp1779Thrfs frameshift NM_001407919.1:c.5298delG NP_001394848.1:p.Asp1767Thrfs frameshift NM_001407920.1:c.5286delG NP_001394849.1:p.Asp1763Thrfs frameshift NM_001407921.1:c.5286delG NP_001394850.1:p.Asp1763Thrfs frameshift NM_001407922.1:c.5286delG NP_001394851.1:p.Asp1763Thrfs frameshift NM_001407923.1:c.5286delG NP_001394852.1:p.Asp1763Thrfs frameshift NM_001407924.1:c.5286delG NP_001394853.1:p.Asp1763Thrfs frameshift NM_001407925.1:c.5286delG NP_001394854.1:p.Asp1763Thrfs frameshift NM_001407926.1:c.5286delG NP_001394855.1:p.Asp1763Thrfs frameshift NM_001407927.1:c.5283delG NP_001394856.1:p.Asp1762Thrfs frameshift NM_001407928.1:c.5283delG NP_001394857.1:p.Asp1762Thrfs frameshift NM_001407929.1:c.5283delG NP_001394858.1:p.Asp1762Thrfs frameshift NM_001407930.1:c.5283delG NP_001394859.1:p.Asp1762Thrfs frameshift NM_001407931.1:c.5283delG NP_001394860.1:p.Asp1762Thrfs frameshift NM_001407932.1:c.5283delG NP_001394861.1:p.Asp1762Thrfs frameshift NM_001407933.1:c.5283delG NP_001394862.1:p.Asp1762Thrfs frameshift NM_001407934.1:c.5280delG NP_001394863.1:p.Asp1761Thrfs frameshift NM_001407935.1:c.5280delG NP_001394864.1:p.Asp1761Thrfs frameshift NM_001407936.1:c.5280delG NP_001394865.1:p.Asp1761Thrfs frameshift NM_001407937.1:c.*64delG NM_001407938.1:c.*64delG NM_001407939.1:c.*64delG NM_001407940.1:c.*64delG NM_001407941.1:c.*64delG NM_001407942.1:c.*64delG NM_001407943.1:c.*64delG NM_001407944.1:c.*64delG NM_001407945.1:c.*64delG NM_001407946.1:c.5217delG NP_001394875.1:p.Asp1740Thrfs frameshift NM_001407947.1:c.5217delG NP_001394876.1:p.Asp1740Thrfs frameshift NM_001407948.1:c.5217delG NP_001394877.1:p.Asp1740Thrfs frameshift NM_001407949.1:c.5217delG NP_001394878.1:p.Asp1740Thrfs frameshift NM_001407950.1:c.5214delG NP_001394879.1:p.Asp1739Thrfs frameshift NM_001407951.1:c.5214delG NP_001394880.1:p.Asp1739Thrfs frameshift NM_001407952.1:c.5214delG NP_001394881.1:p.Asp1739Thrfs frameshift NM_001407953.1:c.5214delG NP_001394882.1:p.Asp1739Thrfs frameshift NM_001407954.1:c.5214delG NP_001394883.1:p.Asp1739Thrfs frameshift NM_001407955.1:c.5214delG NP_001394884.1:p.Asp1739Thrfs frameshift NM_001407956.1:c.5211delG NP_001394885.1:p.Asp1738Thrfs frameshift NM_001407957.1:c.5211delG NP_001394886.1:p.Asp1738Thrfs frameshift NM_001407958.1:c.5211delG NP_001394887.1:p.Asp1738Thrfs frameshift NM_001407959.1:c.5169delG NP_001394888.1:p.Asp1724Thrfs frameshift NM_001407960.1:c.5166delG NP_001394889.1:p.Asp1723Thrfs frameshift NM_001407962.1:c.5166delG NP_001394891.1:p.Asp1723Thrfs frameshift NM_001407963.1:c.5163delG NP_001394892.1:p.Asp1722Thrfs frameshift NM_001407964.1:c.5088delG NP_001394893.1:p.Asp1697Thrfs frameshift NM_001407965.1:c.5043delG NP_001394894.1:p.Asp1682Thrfs frameshift NM_001407966.1:c.4662delG NP_001394895.1:p.Asp1555Thrfs frameshift NM_001407967.1:c.4659delG NP_001394896.1:p.Asp1554Thrfs frameshift NM_001407968.1:c.2946delG NP_001394897.1:p.Asp983Thrfs frameshift NM_001407969.1:c.2943delG NP_001394898.1:p.Asp982Thrfs frameshift NM_001407970.1:c.2307delG NP_001394899.1:p.Asp770Thrfs frameshift NM_001407971.1:c.2307delG NP_001394900.1:p.Asp770Thrfs frameshift NM_001407972.1:c.2304delG NP_001394901.1:p.Asp769Thrfs frameshift NM_001407973.1:c.2241delG NP_001394902.1:p.Asp748Thrfs frameshift NM_001407974.1:c.2241delG NP_001394903.1:p.Asp748Thrfs frameshift NM_001407975.1:c.2241delG NP_001394904.1:p.Asp748Thrfs frameshift NM_001407976.1:c.2241delG NP_001394905.1:p.Asp748Thrfs frameshift NM_001407977.1:c.2241delG NP_001394906.1:p.Asp748Thrfs frameshift NM_001407978.1:c.2241delG NP_001394907.1:p.Asp748Thrfs frameshift NM_001407979.1:c.2238delG NP_001394908.1:p.Asp747Thrfs frameshift NM_001407980.1:c.2238delG NP_001394909.1:p.Asp747Thrfs frameshift NM_001407981.1:c.2238delG NP_001394910.1:p.Asp747Thrfs frameshift NM_001407982.1:c.2238delG NP_001394911.1:p.Asp747Thrfs frameshift NM_001407983.1:c.2238delG NP_001394912.1:p.Asp747Thrfs frameshift NM_001407984.1:c.2238delG NP_001394913.1:p.Asp747Thrfs frameshift NM_001407985.1:c.2238delG NP_001394914.1:p.Asp747Thrfs frameshift NM_001407986.1:c.2238delG NP_001394915.1:p.Asp747Thrfs frameshift NM_001407990.1:c.2238delG NP_001394919.1:p.Asp747Thrfs frameshift NM_001407991.1:c.2238delG NP_001394920.1:p.Asp747Thrfs frameshift NM_001407992.1:c.2238delG NP_001394921.1:p.Asp747Thrfs frameshift NM_001407993.1:c.2238delG NP_001394922.1:p.Asp747Thrfs frameshift NM_001408392.1:c.2235delG NP_001395321.1:p.Asp746Thrfs frameshift NM_001408396.1:c.2235delG NP_001395325.1:p.Asp746Thrfs frameshift NM_001408397.1:c.2235delG NP_001395326.1:p.Asp746Thrfs frameshift NM_001408398.1:c.2235delG NP_001395327.1:p.Asp746Thrfs frameshift NM_001408399.1:c.2235delG NP_001395328.1:p.Asp746Thrfs frameshift NM_001408400.1:c.2235delG NP_001395329.1:p.Asp746Thrfs frameshift NM_001408401.1:c.2235delG NP_001395330.1:p.Asp746Thrfs frameshift NM_001408402.1:c.2235delG NP_001395331.1:p.Asp746Thrfs frameshift NM_001408403.1:c.2235delG NP_001395332.1:p.Asp746Thrfs frameshift NM_001408404.1:c.2235delG NP_001395333.1:p.Asp746Thrfs frameshift NM_001408406.1:c.2232delG NP_001395335.1:p.Asp745Thrfs frameshift NM_001408407.1:c.2232delG NP_001395336.1:p.Asp745Thrfs frameshift NM_001408408.1:c.2232delG NP_001395337.1:p.Asp745Thrfs frameshift NM_001408409.1:c.2229delG NP_001395338.1:p.Asp744Thrfs frameshift NM_001408410.1:c.2166delG NP_001395339.1:p.Asp723Thrfs frameshift NM_001408411.1:c.2163delG NP_001395340.1:p.Asp722Thrfs frameshift NM_001408412.1:c.2160delG NP_001395341.1:p.Asp721Thrfs frameshift NM_001408413.1:c.2160delG NP_001395342.1:p.Asp721Thrfs frameshift NM_001408414.1:c.2160delG NP_001395343.1:p.Asp721Thrfs frameshift NM_001408415.1:c.2160delG NP_001395344.1:p.Asp721Thrfs frameshift NM_001408416.1:c.2160delG NP_001395345.1:p.Asp721Thrfs frameshift NM_001408418.1:c.2124delG NP_001395347.1:p.Asp709Thrfs frameshift NM_001408419.1:c.2124delG NP_001395348.1:p.Asp709Thrfs frameshift NM_001408420.1:c.2124delG NP_001395349.1:p.Asp709Thrfs frameshift NM_001408421.1:c.2121delG NP_001395350.1:p.Asp708Thrfs frameshift NM_001408422.1:c.2121delG NP_001395351.1:p.Asp708Thrfs frameshift NM_001408423.1:c.2121delG NP_001395352.1:p.Asp708Thrfs frameshift NM_001408424.1:c.2121delG NP_001395353.1:p.Asp708Thrfs frameshift NM_001408425.1:c.2118delG NP_001395354.1:p.Asp707Thrfs frameshift NM_001408426.1:c.2118delG NP_001395355.1:p.Asp707Thrfs frameshift NM_001408427.1:c.2118delG NP_001395356.1:p.Asp707Thrfs frameshift NM_001408428.1:c.2118delG NP_001395357.1:p.Asp707Thrfs frameshift NM_001408429.1:c.2118delG NP_001395358.1:p.Asp707Thrfs frameshift NM_001408430.1:c.2118delG NP_001395359.1:p.Asp707Thrfs frameshift NM_001408431.1:c.2118delG NP_001395360.1:p.Asp707Thrfs frameshift NM_001408432.1:c.2115delG NP_001395361.1:p.Asp706Thrfs frameshift NM_001408433.1:c.2115delG NP_001395362.1:p.Asp706Thrfs frameshift NM_001408434.1:c.2115delG NP_001395363.1:p.Asp706Thrfs frameshift NM_001408435.1:c.2115delG NP_001395364.1:p.Asp706Thrfs frameshift NM_001408436.1:c.2115delG NP_001395365.1:p.Asp706Thrfs frameshift NM_001408437.1:c.2115delG NP_001395366.1:p.Asp706Thrfs frameshift NM_001408438.1:c.2115delG NP_001395367.1:p.Asp706Thrfs frameshift NM_001408439.1:c.2115delG NP_001395368.1:p.Asp706Thrfs frameshift NM_001408440.1:c.2115delG NP_001395369.1:p.Asp706Thrfs frameshift NM_001408441.1:c.2115delG NP_001395370.1:p.Asp706Thrfs frameshift NM_001408442.1:c.2115delG NP_001395371.1:p.Asp706Thrfs frameshift NM_001408443.1:c.2115delG NP_001395372.1:p.Asp706Thrfs frameshift NM_001408444.1:c.2115delG NP_001395373.1:p.Asp706Thrfs frameshift NM_001408445.1:c.2112delG NP_001395374.1:p.Asp705Thrfs frameshift NM_001408446.1:c.2112delG NP_001395375.1:p.Asp705Thrfs frameshift NM_001408447.1:c.2112delG NP_001395376.1:p.Asp705Thrfs frameshift NM_001408448.1:c.2112delG NP_001395377.1:p.Asp705Thrfs frameshift NM_001408450.1:c.2112delG NP_001395379.1:p.Asp705Thrfs frameshift NM_001408451.1:c.2106delG NP_001395380.1:p.Asp703Thrfs frameshift NM_001408452.1:c.2100delG NP_001395381.1:p.Asp701Thrfs frameshift NM_001408453.1:c.2100delG NP_001395382.1:p.Asp701Thrfs frameshift NM_001408454.1:c.2100delG NP_001395383.1:p.Asp701Thrfs frameshift NM_001408455.1:c.2100delG NP_001395384.1:p.Asp701Thrfs frameshift NM_001408456.1:c.2100delG NP_001395385.1:p.Asp701Thrfs frameshift NM_001408457.1:c.2100delG NP_001395386.1:p.Asp701Thrfs frameshift NM_001408458.1:c.2097delG NP_001395387.1:p.Asp700Thrfs frameshift NM_001408459.1:c.2097delG NP_001395388.1:p.Asp700Thrfs frameshift NM_001408460.1:c.2097delG NP_001395389.1:p.Asp700Thrfs frameshift NM_001408461.1:c.2097delG NP_001395390.1:p.Asp700Thrfs frameshift NM_001408462.1:c.2097delG NP_001395391.1:p.Asp700Thrfs frameshift NM_001408463.1:c.2097delG NP_001395392.1:p.Asp700Thrfs frameshift NM_001408464.1:c.2097delG NP_001395393.1:p.Asp700Thrfs frameshift NM_001408465.1:c.2097delG NP_001395394.1:p.Asp700Thrfs frameshift NM_001408466.1:c.2097delG NP_001395395.1:p.Asp700Thrfs frameshift NM_001408467.1:c.2097delG NP_001395396.1:p.Asp700Thrfs frameshift NM_001408468.1:c.2094delG NP_001395397.1:p.Asp699Thrfs frameshift NM_001408469.1:c.2094delG NP_001395398.1:p.Asp699Thrfs frameshift NM_001408470.1:c.2094delG NP_001395399.1:p.Asp699Thrfs frameshift NM_001408472.1:c.*64delG NM_001408473.1:c.*64delG NM_001408474.1:c.2040delG NP_001395403.1:p.Asp681Thrfs frameshift NM_001408475.1:c.2037delG NP_001395404.1:p.Asp680Thrfs frameshift NM_001408476.1:c.2037delG NP_001395405.1:p.Asp680Thrfs frameshift NM_001408478.1:c.2031delG NP_001395407.1:p.Asp678Thrfs frameshift NM_001408479.1:c.2031delG NP_001395408.1:p.Asp678Thrfs frameshift NM_001408480.1:c.2031delG NP_001395409.1:p.Asp678Thrfs frameshift NM_001408481.1:c.2028delG NP_001395410.1:p.Asp677Thrfs frameshift NM_001408482.1:c.2028delG NP_001395411.1:p.Asp677Thrfs frameshift NM_001408483.1:c.2028delG NP_001395412.1:p.Asp677Thrfs frameshift NM_001408484.1:c.2028delG NP_001395413.1:p.Asp677Thrfs frameshift NM_001408485.1:c.2028delG NP_001395414.1:p.Asp677Thrfs frameshift NM_001408489.1:c.2028delG NP_001395418.1:p.Asp677Thrfs frameshift NM_001408490.1:c.2028delG NP_001395419.1:p.Asp677Thrfs frameshift NM_001408491.1:c.2028delG NP_001395420.1:p.Asp677Thrfs frameshift NM_001408492.1:c.2025delG NP_001395421.1:p.Asp676Thrfs frameshift NM_001408493.1:c.2025delG NP_001395422.1:p.Asp676Thrfs frameshift NM_001408494.1:c.2001delG NP_001395423.1:p.Asp668Thrfs frameshift NM_001408495.1:c.1995delG NP_001395424.1:p.Asp666Thrfs frameshift NM_001408496.1:c.1977delG NP_001395425.1:p.Asp660Thrfs frameshift NM_001408497.1:c.1977delG NP_001395426.1:p.Asp660Thrfs frameshift NM_001408498.1:c.1977delG NP_001395427.1:p.Asp660Thrfs frameshift NM_001408499.1:c.1977delG NP_001395428.1:p.Asp660Thrfs frameshift NM_001408500.1:c.1977delG NP_001395429.1:p.Asp660Thrfs frameshift NM_001408501.1:c.1977delG NP_001395430.1:p.Asp660Thrfs frameshift NM_001408502.1:c.1974delG NP_001395431.1:p.Asp659Thrfs frameshift NM_001408503.1:c.1974delG NP_001395432.1:p.Asp659Thrfs frameshift NM_001408504.1:c.1974delG NP_001395433.1:p.Asp659Thrfs frameshift NM_001408505.1:c.1971delG NP_001395434.1:p.Asp658Thrfs frameshift NM_001408506.1:c.1914delG NP_001395435.1:p.Asp639Thrfs frameshift NM_001408507.1:c.1911delG NP_001395436.1:p.Asp638Thrfs frameshift NM_001408508.1:c.1902delG NP_001395437.1:p.Asp635Thrfs frameshift NM_001408509.1:c.1899delG NP_001395438.1:p.Asp634Thrfs frameshift NM_001408510.1:c.1860delG NP_001395439.1:p.Asp621Thrfs frameshift NM_001408511.1:c.1857delG NP_001395440.1:p.Asp620Thrfs frameshift NM_001408512.1:c.1737delG NP_001395441.1:p.Asp580Thrfs frameshift NM_001408513.1:c.1710delG NP_001395442.1:p.Asp571Thrfs frameshift NM_001408514.1:c.1314delG NP_001395443.1:p.Asp439Thrfs frameshift NM_007294.3:c.5550delG NP_009225.1:p.Asp1851Thrfs frameshift NM_007297.4:c.5410del NP_009228.2:p.Asp1804fs frameshift NM_007298.4:c.2238delG NP_009229.2:p.Asp747Thrfs frameshift NM_007299.4:c.*65del 3 prime UTR NM_007300.4:c.5614del NP_009231.2:p.Asp1872fs frameshift NM_007304.2:c.2238delG NP_009235.2:p.Asp747Thrfs frameshift NR_027676.2:n.5728del non-coding transcript variant NC_000017.11:g.43045720del NC_000017.10:g.41197737del NG_005905.2:g.172265del LRG_292:g.172265del LRG_292t1:c.5551del LRG_292p1:p.Asp1851fs - Protein change
- D1851fs, D747fs, D1804fs, D1872fs
- Other names
- 5670delG
- Canonical SPDI
- NC_000017.11:43045718:CC:C
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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.
-
-
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. |
|||
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 (2) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000257833.6 |
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. |
|
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Pathogenic
(Oct 18, 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: SCV000323889.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
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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
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000326358.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
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 rs886040304 ...
HelpRecord last updated Jul 29, 2023
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.