ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5569del (p.Gln1857fs)
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
-
NM_007294.4(BRCA1):c.5569del (p.Gln1857fs)
Variation ID: 265622 Accession: VCV000265622.14
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045701 (GRCh38) [ NCBI UCSC ] 17: 41197718 (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 10, 2016 Feb 20, 2024 May 10, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5569del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gln1857fs frameshift NM_001407571.1:c.5353delC NP_001394500.1:p.Gln1786Argfs frameshift NM_001407581.1:c.5632delC NP_001394510.1:p.Gln1879Argfs frameshift NM_001407582.1:c.5632delC NP_001394511.1:p.Gln1879Argfs frameshift NM_001407583.1:c.5629delC NP_001394512.1:p.Gln1878Argfs frameshift NM_001407585.1:c.5629delC NP_001394514.1:p.Gln1878Argfs frameshift NM_001407587.1:c.5629delC NP_001394516.1:p.Gln1878Argfs frameshift NM_001407590.1:c.5626delC NP_001394519.1:p.Gln1877Argfs frameshift NM_001407591.1:c.5626delC NP_001394520.1:p.Gln1877Argfs frameshift NM_001407593.1:c.5566delC NP_001394522.1:p.Gln1857Argfs frameshift NM_001407594.1:c.5566delC NP_001394523.1:p.Gln1857Argfs frameshift NM_001407596.1:c.5566delC NP_001394525.1:p.Gln1857Argfs frameshift NM_001407597.1:c.5566delC NP_001394526.1:p.Gln1857Argfs frameshift NM_001407598.1:c.5566delC NP_001394527.1:p.Gln1857Argfs frameshift NM_001407602.1:c.5566delC NP_001394531.1:p.Gln1857Argfs frameshift NM_001407603.1:c.5566delC NP_001394532.1:p.Gln1857Argfs frameshift NM_001407605.1:c.5566delC NP_001394534.1:p.Gln1857Argfs frameshift NM_001407610.1:c.5563delC NP_001394539.1:p.Gln1856Argfs frameshift NM_001407611.1:c.5563delC NP_001394540.1:p.Gln1856Argfs frameshift NM_001407612.1:c.5563delC NP_001394541.1:p.Gln1856Argfs frameshift NM_001407613.1:c.5563delC NP_001394542.1:p.Gln1856Argfs frameshift NM_001407614.1:c.5563delC NP_001394543.1:p.Gln1856Argfs frameshift NM_001407615.1:c.5563delC NP_001394544.1:p.Gln1856Argfs frameshift NM_001407616.1:c.5563delC NP_001394545.1:p.Gln1856Argfs frameshift NM_001407617.1:c.5563delC NP_001394546.1:p.Gln1856Argfs frameshift NM_001407618.1:c.5563delC NP_001394547.1:p.Gln1856Argfs frameshift NM_001407619.1:c.5563delC NP_001394548.1:p.Gln1856Argfs frameshift NM_001407620.1:c.5563delC NP_001394549.1:p.Gln1856Argfs frameshift NM_001407621.1:c.5563delC NP_001394550.1:p.Gln1856Argfs frameshift NM_001407622.1:c.5563delC NP_001394551.1:p.Gln1856Argfs frameshift NM_001407623.1:c.5563delC NP_001394552.1:p.Gln1856Argfs frameshift NM_001407624.1:c.5563delC NP_001394553.1:p.Gln1856Argfs frameshift NM_001407625.1:c.5563delC NP_001394554.1:p.Gln1856Argfs frameshift NM_001407626.1:c.5563delC NP_001394555.1:p.Gln1856Argfs frameshift NM_001407627.1:c.5560delC NP_001394556.1:p.Gln1855Argfs frameshift NM_001407628.1:c.5560delC NP_001394557.1:p.Gln1855Argfs frameshift NM_001407629.1:c.5560delC NP_001394558.1:p.Gln1855Argfs frameshift NM_001407630.1:c.5560delC NP_001394559.1:p.Gln1855Argfs frameshift NM_001407631.1:c.5560delC NP_001394560.1:p.Gln1855Argfs frameshift NM_001407632.1:c.5560delC NP_001394561.1:p.Gln1855Argfs frameshift NM_001407633.1:c.5560delC NP_001394562.1:p.Gln1855Argfs frameshift NM_001407634.1:c.5560delC NP_001394563.1:p.Gln1855Argfs frameshift NM_001407635.1:c.5560delC NP_001394564.1:p.Gln1855Argfs frameshift NM_001407636.1:c.5560delC NP_001394565.1:p.Gln1855Argfs frameshift NM_001407637.1:c.5560delC NP_001394566.1:p.Gln1855Argfs frameshift NM_001407638.1:c.5560delC NP_001394567.1:p.Gln1855Argfs frameshift NM_001407639.1:c.5560delC NP_001394568.1:p.Gln1855Argfs frameshift NM_001407640.1:c.5560delC NP_001394569.1:p.Gln1855Argfs frameshift NM_001407641.1:c.5560delC NP_001394570.1:p.Gln1855Argfs frameshift NM_001407642.1:c.5560delC NP_001394571.1:p.Gln1855Argfs frameshift NM_001407644.1:c.5557delC NP_001394573.1:p.Gln1854Argfs frameshift NM_001407645.1:c.5557delC NP_001394574.1:p.Gln1854Argfs frameshift NM_001407646.1:c.5554delC NP_001394575.1:p.Gln1853Argfs frameshift NM_001407647.1:c.5551delC NP_001394576.1:p.Gln1852Argfs frameshift NM_001407648.1:c.5509delC NP_001394577.1:p.Gln1838Argfs frameshift NM_001407649.1:c.5506delC NP_001394578.1:p.Gln1837Argfs frameshift NM_001407652.1:c.5488delC NP_001394581.1:p.Gln1831Argfs frameshift NM_001407653.1:c.5488delC NP_001394582.1:p.Gln1831Argfs frameshift NM_001407654.1:c.5488delC NP_001394583.1:p.Gln1831Argfs frameshift NM_001407655.1:c.5488delC NP_001394584.1:p.Gln1831Argfs frameshift NM_001407656.1:c.5485delC NP_001394585.1:p.Gln1830Argfs frameshift NM_001407657.1:c.5485delC NP_001394586.1:p.Gln1830Argfs frameshift NM_001407658.1:c.5485delC NP_001394587.1:p.Gln1830Argfs frameshift NM_001407659.1:c.5482delC NP_001394588.1:p.Gln1829Argfs frameshift NM_001407660.1:c.5482delC NP_001394589.1:p.Gln1829Argfs frameshift NM_001407661.1:c.5482delC NP_001394590.1:p.Gln1829Argfs frameshift NM_001407662.1:c.5482delC NP_001394591.1:p.Gln1829Argfs frameshift NM_001407663.1:c.5482delC NP_001394592.1:p.Gln1829Argfs frameshift NM_001407664.1:c.5443delC NP_001394593.1:p.Gln1816Argfs frameshift NM_001407665.1:c.5443delC NP_001394594.1:p.Gln1816Argfs frameshift NM_001407666.1:c.5443delC NP_001394595.1:p.Gln1816Argfs frameshift NM_001407667.1:c.5443delC NP_001394596.1:p.Gln1816Argfs frameshift NM_001407668.1:c.5443delC NP_001394597.1:p.Gln1816Argfs frameshift NM_001407669.1:c.5443delC NP_001394598.1:p.Gln1816Argfs frameshift NM_001407670.1:c.5440delC NP_001394599.1:p.Gln1815Argfs frameshift NM_001407671.1:c.5440delC NP_001394600.1:p.Gln1815Argfs frameshift NM_001407672.1:c.5440delC NP_001394601.1:p.Gln1815Argfs frameshift NM_001407673.1:c.5440delC NP_001394602.1:p.Gln1815Argfs frameshift NM_001407674.1:c.5440delC NP_001394603.1:p.Gln1815Argfs frameshift NM_001407675.1:c.5440delC NP_001394604.1:p.Gln1815Argfs frameshift NM_001407676.1:c.5440delC NP_001394605.1:p.Gln1815Argfs frameshift NM_001407677.1:c.5440delC NP_001394606.1:p.Gln1815Argfs frameshift NM_001407678.1:c.5440delC NP_001394607.1:p.Gln1815Argfs frameshift NM_001407679.1:c.5440delC NP_001394608.1:p.Gln1815Argfs frameshift NM_001407680.1:c.5440delC NP_001394609.1:p.Gln1815Argfs frameshift NM_001407681.1:c.5437delC NP_001394610.1:p.Gln1814Argfs frameshift NM_001407682.1:c.5437delC NP_001394611.1:p.Gln1814Argfs frameshift NM_001407683.1:c.5437delC NP_001394612.1:p.Gln1814Argfs frameshift NM_001407684.1:c.5437delC NP_001394613.1:p.Gln1814Argfs frameshift NM_001407685.1:c.5437delC NP_001394614.1:p.Gln1814Argfs frameshift NM_001407686.1:c.5437delC NP_001394615.1:p.Gln1814Argfs frameshift NM_001407687.1:c.5437delC NP_001394616.1:p.Gln1814Argfs frameshift NM_001407688.1:c.5437delC NP_001394617.1:p.Gln1814Argfs frameshift NM_001407689.1:c.5437delC NP_001394618.1:p.Gln1814Argfs frameshift NM_001407690.1:c.5434delC NP_001394619.1:p.Gln1813Argfs frameshift NM_001407691.1:c.5434delC NP_001394620.1:p.Gln1813Argfs frameshift NM_001407692.1:c.5425delC NP_001394621.1:p.Gln1810Argfs frameshift NM_001407694.1:c.5425delC NP_001394623.1:p.Gln1810Argfs frameshift NM_001407695.1:c.5425delC NP_001394624.1:p.Gln1810Argfs frameshift NM_001407696.1:c.5425delC NP_001394625.1:p.Gln1810Argfs frameshift NM_001407697.1:c.5425delC NP_001394626.1:p.Gln1810Argfs frameshift NM_001407698.1:c.5425delC NP_001394627.1:p.Gln1810Argfs frameshift NM_001407724.1:c.5425delC NP_001394653.1:p.Gln1810Argfs frameshift NM_001407725.1:c.5425delC NP_001394654.1:p.Gln1810Argfs frameshift NM_001407726.1:c.5425delC NP_001394655.1:p.Gln1810Argfs frameshift NM_001407727.1:c.5425delC NP_001394656.1:p.Gln1810Argfs frameshift NM_001407728.1:c.5425delC NP_001394657.1:p.Gln1810Argfs frameshift NM_001407729.1:c.5425delC NP_001394658.1:p.Gln1810Argfs frameshift NM_001407730.1:c.5425delC NP_001394659.1:p.Gln1810Argfs frameshift NM_001407731.1:c.5425delC NP_001394660.1:p.Gln1810Argfs frameshift NM_001407732.1:c.5422delC NP_001394661.1:p.Gln1809Argfs frameshift NM_001407733.1:c.5422delC NP_001394662.1:p.Gln1809Argfs frameshift NM_001407734.1:c.5422delC NP_001394663.1:p.Gln1809Argfs frameshift NM_001407735.1:c.5422delC NP_001394664.1:p.Gln1809Argfs frameshift NM_001407736.1:c.5422delC NP_001394665.1:p.Gln1809Argfs frameshift NM_001407737.1:c.5422delC NP_001394666.1:p.Gln1809Argfs frameshift NM_001407738.1:c.5422delC NP_001394667.1:p.Gln1809Argfs frameshift NM_001407739.1:c.5422delC NP_001394668.1:p.Gln1809Argfs frameshift NM_001407740.1:c.5422delC NP_001394669.1:p.Gln1809Argfs frameshift NM_001407741.1:c.5422delC NP_001394670.1:p.Gln1809Argfs frameshift NM_001407742.1:c.5422delC NP_001394671.1:p.Gln1809Argfs frameshift NM_001407743.1:c.5422delC NP_001394672.1:p.Gln1809Argfs frameshift NM_001407744.1:c.5422delC NP_001394673.1:p.Gln1809Argfs frameshift NM_001407745.1:c.5422delC NP_001394674.1:p.Gln1809Argfs frameshift NM_001407746.1:c.5422delC NP_001394675.1:p.Gln1809Argfs frameshift NM_001407747.1:c.5422delC NP_001394676.1:p.Gln1809Argfs frameshift NM_001407748.1:c.5422delC NP_001394677.1:p.Gln1809Argfs frameshift NM_001407749.1:c.5422delC NP_001394678.1:p.Gln1809Argfs frameshift NM_001407750.1:c.5422delC NP_001394679.1:p.Gln1809Argfs frameshift NM_001407751.1:c.5422delC NP_001394680.1:p.Gln1809Argfs frameshift NM_001407752.1:c.5422delC NP_001394681.1:p.Gln1809Argfs frameshift NM_001407838.1:c.5419delC NP_001394767.1:p.Gln1808Argfs frameshift NM_001407839.1:c.5419delC NP_001394768.1:p.Gln1808Argfs frameshift NM_001407841.1:c.5419delC NP_001394770.1:p.Gln1808Argfs frameshift NM_001407842.1:c.5419delC NP_001394771.1:p.Gln1808Argfs frameshift NM_001407843.1:c.5419delC NP_001394772.1:p.Gln1808Argfs frameshift NM_001407844.1:c.5419delC NP_001394773.1:p.Gln1808Argfs frameshift NM_001407845.1:c.5419delC NP_001394774.1:p.Gln1808Argfs frameshift NM_001407846.1:c.5419delC NP_001394775.1:p.Gln1808Argfs frameshift NM_001407847.1:c.5419delC NP_001394776.1:p.Gln1808Argfs frameshift NM_001407848.1:c.5419delC NP_001394777.1:p.Gln1808Argfs frameshift NM_001407849.1:c.5419delC NP_001394778.1:p.Gln1808Argfs frameshift NM_001407850.1:c.5419delC NP_001394779.1:p.Gln1808Argfs frameshift NM_001407851.1:c.5419delC NP_001394780.1:p.Gln1808Argfs frameshift NM_001407852.1:c.5419delC NP_001394781.1:p.Gln1808Argfs frameshift NM_001407853.1:c.5419delC NP_001394782.1:p.Gln1808Argfs frameshift NM_001407854.1:c.*80delC NM_001407858.1:c.*80delC NM_001407859.1:c.*80delC NM_001407860.1:c.*80delC NM_001407861.1:c.*80delC NM_001407862.1:c.5365delC NP_001394791.1:p.Gln1790Argfs frameshift NM_001407863.1:c.5362delC NP_001394792.1:p.Gln1789Argfs frameshift NM_001407874.1:c.5359delC NP_001394803.1:p.Gln1788Argfs frameshift NM_001407875.1:c.5359delC NP_001394804.1:p.Gln1788Argfs frameshift NM_001407879.1:c.5356delC NP_001394808.1:p.Gln1787Argfs frameshift NM_001407881.1:c.5356delC NP_001394810.1:p.Gln1787Argfs frameshift NM_001407882.1:c.5356delC NP_001394811.1:p.Gln1787Argfs frameshift NM_001407884.1:c.5356delC NP_001394813.1:p.Gln1787Argfs frameshift NM_001407885.1:c.5356delC NP_001394814.1:p.Gln1787Argfs frameshift NM_001407886.1:c.5356delC NP_001394815.1:p.Gln1787Argfs frameshift NM_001407887.1:c.5356delC NP_001394816.1:p.Gln1787Argfs frameshift NM_001407889.1:c.5356delC NP_001394818.1:p.Gln1787Argfs frameshift NM_001407894.1:c.5353delC NP_001394823.1:p.Gln1786Argfs frameshift NM_001407895.1:c.5353delC NP_001394824.1:p.Gln1786Argfs frameshift NM_001407896.1:c.5353delC NP_001394825.1:p.Gln1786Argfs frameshift NM_001407897.1:c.5353delC NP_001394826.1:p.Gln1786Argfs frameshift NM_001407898.1:c.5353delC NP_001394827.1:p.Gln1786Argfs frameshift NM_001407899.1:c.5353delC NP_001394828.1:p.Gln1786Argfs frameshift NM_001407900.1:c.5353delC NP_001394829.1:p.Gln1786Argfs frameshift NM_001407902.1:c.5353delC NP_001394831.1:p.Gln1786Argfs frameshift NM_001407904.1:c.5353delC NP_001394833.1:p.Gln1786Argfs frameshift NM_001407906.1:c.5353delC NP_001394835.1:p.Gln1786Argfs frameshift NM_001407907.1:c.5353delC NP_001394836.1:p.Gln1786Argfs frameshift NM_001407908.1:c.5353delC NP_001394837.1:p.Gln1786Argfs frameshift NM_001407909.1:c.5353delC NP_001394838.1:p.Gln1786Argfs frameshift NM_001407910.1:c.5353delC NP_001394839.1:p.Gln1786Argfs frameshift NM_001407915.1:c.5350delC NP_001394844.1:p.Gln1785Argfs frameshift NM_001407916.1:c.5350delC NP_001394845.1:p.Gln1785Argfs frameshift NM_001407917.1:c.5350delC NP_001394846.1:p.Gln1785Argfs frameshift NM_001407918.1:c.5350delC NP_001394847.1:p.Gln1785Argfs frameshift NM_001407919.1:c.5314delC NP_001394848.1:p.Gln1773Argfs frameshift NM_001407920.1:c.5302delC NP_001394849.1:p.Gln1769Argfs frameshift NM_001407921.1:c.5302delC NP_001394850.1:p.Gln1769Argfs frameshift NM_001407922.1:c.5302delC NP_001394851.1:p.Gln1769Argfs frameshift NM_001407923.1:c.5302delC NP_001394852.1:p.Gln1769Argfs frameshift NM_001407924.1:c.5302delC NP_001394853.1:p.Gln1769Argfs frameshift NM_001407925.1:c.5302delC NP_001394854.1:p.Gln1769Argfs frameshift NM_001407926.1:c.5302delC NP_001394855.1:p.Gln1769Argfs frameshift NM_001407927.1:c.5299delC NP_001394856.1:p.Gln1768Argfs frameshift NM_001407928.1:c.5299delC NP_001394857.1:p.Gln1768Argfs frameshift NM_001407929.1:c.5299delC NP_001394858.1:p.Gln1768Argfs frameshift NM_001407930.1:c.5299delC NP_001394859.1:p.Gln1768Argfs frameshift NM_001407931.1:c.5299delC NP_001394860.1:p.Gln1768Argfs frameshift NM_001407932.1:c.5299delC NP_001394861.1:p.Gln1768Argfs frameshift NM_001407933.1:c.5299delC NP_001394862.1:p.Gln1768Argfs frameshift NM_001407934.1:c.5296delC NP_001394863.1:p.Gln1767Argfs frameshift NM_001407935.1:c.5296delC NP_001394864.1:p.Gln1767Argfs frameshift NM_001407936.1:c.5296delC NP_001394865.1:p.Gln1767Argfs frameshift NM_001407937.1:c.*80delC NM_001407938.1:c.*80delC NM_001407939.1:c.*80delC NM_001407940.1:c.*80delC NM_001407941.1:c.*80delC NM_001407942.1:c.*80delC NM_001407943.1:c.*80delC NM_001407944.1:c.*80delC NM_001407945.1:c.*80delC NM_001407946.1:c.5233delC NP_001394875.1:p.Gln1746Argfs frameshift NM_001407947.1:c.5233delC NP_001394876.1:p.Gln1746Argfs frameshift NM_001407948.1:c.5233delC NP_001394877.1:p.Gln1746Argfs frameshift NM_001407949.1:c.5233delC NP_001394878.1:p.Gln1746Argfs frameshift NM_001407950.1:c.5230delC NP_001394879.1:p.Gln1745Argfs frameshift NM_001407951.1:c.5230delC NP_001394880.1:p.Gln1745Argfs frameshift NM_001407952.1:c.5230delC NP_001394881.1:p.Gln1745Argfs frameshift NM_001407953.1:c.5230delC NP_001394882.1:p.Gln1745Argfs frameshift NM_001407954.1:c.5230delC NP_001394883.1:p.Gln1745Argfs frameshift NM_001407955.1:c.5230delC NP_001394884.1:p.Gln1745Argfs frameshift NM_001407956.1:c.5227delC NP_001394885.1:p.Gln1744Argfs frameshift NM_001407957.1:c.5227delC NP_001394886.1:p.Gln1744Argfs frameshift NM_001407958.1:c.5227delC NP_001394887.1:p.Gln1744Argfs frameshift NM_001407959.1:c.5185delC NP_001394888.1:p.Gln1730Argfs frameshift NM_001407960.1:c.5182delC NP_001394889.1:p.Gln1729Argfs frameshift NM_001407962.1:c.5182delC NP_001394891.1:p.Gln1729Argfs frameshift NM_001407963.1:c.5179delC NP_001394892.1:p.Gln1728Argfs frameshift NM_001407964.1:c.5104delC NP_001394893.1:p.Gln1703Argfs frameshift NM_001407965.1:c.5059delC NP_001394894.1:p.Gln1688Argfs frameshift NM_001407966.1:c.4678delC NP_001394895.1:p.Gln1561Argfs frameshift NM_001407967.1:c.4675delC NP_001394896.1:p.Gln1560Argfs frameshift NM_001407968.1:c.2962delC NP_001394897.1:p.Gln989Argfs frameshift NM_001407969.1:c.2959delC NP_001394898.1:p.Gln988Argfs frameshift NM_001407970.1:c.2323delC NP_001394899.1:p.Gln776Argfs frameshift NM_001407971.1:c.2323delC NP_001394900.1:p.Gln776Argfs frameshift NM_001407972.1:c.2320delC NP_001394901.1:p.Gln775Argfs frameshift NM_001407973.1:c.2257delC NP_001394902.1:p.Gln754Argfs frameshift NM_001407974.1:c.2257delC NP_001394903.1:p.Gln754Argfs frameshift NM_001407975.1:c.2257delC NP_001394904.1:p.Gln754Argfs frameshift NM_001407976.1:c.2257delC NP_001394905.1:p.Gln754Argfs frameshift NM_001407977.1:c.2257delC NP_001394906.1:p.Gln754Argfs frameshift NM_001407978.1:c.2257delC NP_001394907.1:p.Gln754Argfs frameshift NM_001407979.1:c.2254delC NP_001394908.1:p.Gln753Argfs frameshift NM_001407980.1:c.2254delC NP_001394909.1:p.Gln753Argfs frameshift NM_001407981.1:c.2254delC NP_001394910.1:p.Gln753Argfs frameshift NM_001407982.1:c.2254delC NP_001394911.1:p.Gln753Argfs frameshift NM_001407983.1:c.2254delC NP_001394912.1:p.Gln753Argfs frameshift NM_001407984.1:c.2254delC NP_001394913.1:p.Gln753Argfs frameshift NM_001407985.1:c.2254delC NP_001394914.1:p.Gln753Argfs frameshift NM_001407986.1:c.2254delC NP_001394915.1:p.Gln753Argfs frameshift NM_001407990.1:c.2254delC NP_001394919.1:p.Gln753Argfs frameshift NM_001407991.1:c.2254delC NP_001394920.1:p.Gln753Argfs frameshift NM_001407992.1:c.2254delC NP_001394921.1:p.Gln753Argfs frameshift NM_001407993.1:c.2254delC NP_001394922.1:p.Gln753Argfs frameshift NM_001408392.1:c.2251delC NP_001395321.1:p.Gln752Argfs frameshift NM_001408396.1:c.2251delC NP_001395325.1:p.Gln752Argfs frameshift NM_001408397.1:c.2251delC NP_001395326.1:p.Gln752Argfs frameshift NM_001408398.1:c.2251delC NP_001395327.1:p.Gln752Argfs frameshift NM_001408399.1:c.2251delC NP_001395328.1:p.Gln752Argfs frameshift NM_001408400.1:c.2251delC NP_001395329.1:p.Gln752Argfs frameshift NM_001408401.1:c.2251delC NP_001395330.1:p.Gln752Argfs frameshift NM_001408402.1:c.2251delC NP_001395331.1:p.Gln752Argfs frameshift NM_001408403.1:c.2251delC NP_001395332.1:p.Gln752Argfs frameshift NM_001408404.1:c.2251delC NP_001395333.1:p.Gln752Argfs frameshift NM_001408406.1:c.2248delC NP_001395335.1:p.Gln751Argfs frameshift NM_001408407.1:c.2248delC NP_001395336.1:p.Gln751Argfs frameshift NM_001408408.1:c.2248delC NP_001395337.1:p.Gln751Argfs frameshift NM_001408409.1:c.2245delC NP_001395338.1:p.Gln750Argfs frameshift NM_001408410.1:c.2182delC NP_001395339.1:p.Gln729Argfs frameshift NM_001408411.1:c.2179delC NP_001395340.1:p.Gln728Argfs frameshift NM_001408412.1:c.2176delC NP_001395341.1:p.Gln727Argfs frameshift NM_001408413.1:c.2176delC NP_001395342.1:p.Gln727Argfs frameshift NM_001408414.1:c.2176delC NP_001395343.1:p.Gln727Argfs frameshift NM_001408415.1:c.2176delC NP_001395344.1:p.Gln727Argfs frameshift NM_001408416.1:c.2176delC NP_001395345.1:p.Gln727Argfs frameshift NM_001408418.1:c.2140delC NP_001395347.1:p.Gln715Argfs frameshift NM_001408419.1:c.2140delC NP_001395348.1:p.Gln715Argfs frameshift NM_001408420.1:c.2140delC NP_001395349.1:p.Gln715Argfs frameshift NM_001408421.1:c.2137delC NP_001395350.1:p.Gln714Argfs frameshift NM_001408422.1:c.2137delC NP_001395351.1:p.Gln714Argfs frameshift NM_001408423.1:c.2137delC NP_001395352.1:p.Gln714Argfs frameshift NM_001408424.1:c.2137delC NP_001395353.1:p.Gln714Argfs frameshift NM_001408425.1:c.2134delC NP_001395354.1:p.Gln713Argfs frameshift NM_001408426.1:c.2134delC NP_001395355.1:p.Gln713Argfs frameshift NM_001408427.1:c.2134delC NP_001395356.1:p.Gln713Argfs frameshift NM_001408428.1:c.2134delC NP_001395357.1:p.Gln713Argfs frameshift NM_001408429.1:c.2134delC NP_001395358.1:p.Gln713Argfs frameshift NM_001408430.1:c.2134delC NP_001395359.1:p.Gln713Argfs frameshift NM_001408431.1:c.2134delC NP_001395360.1:p.Gln713Argfs frameshift NM_001408432.1:c.2131delC NP_001395361.1:p.Gln712Argfs frameshift NM_001408433.1:c.2131delC NP_001395362.1:p.Gln712Argfs frameshift NM_001408434.1:c.2131delC NP_001395363.1:p.Gln712Argfs frameshift NM_001408435.1:c.2131delC NP_001395364.1:p.Gln712Argfs frameshift NM_001408436.1:c.2131delC NP_001395365.1:p.Gln712Argfs frameshift NM_001408437.1:c.2131delC NP_001395366.1:p.Gln712Argfs frameshift NM_001408438.1:c.2131delC NP_001395367.1:p.Gln712Argfs frameshift NM_001408439.1:c.2131delC NP_001395368.1:p.Gln712Argfs frameshift NM_001408440.1:c.2131delC NP_001395369.1:p.Gln712Argfs frameshift NM_001408441.1:c.2131delC NP_001395370.1:p.Gln712Argfs frameshift NM_001408442.1:c.2131delC NP_001395371.1:p.Gln712Argfs frameshift NM_001408443.1:c.2131delC NP_001395372.1:p.Gln712Argfs frameshift NM_001408444.1:c.2131delC NP_001395373.1:p.Gln712Argfs frameshift NM_001408445.1:c.2128delC NP_001395374.1:p.Gln711Argfs frameshift NM_001408446.1:c.2128delC NP_001395375.1:p.Gln711Argfs frameshift NM_001408447.1:c.2128delC NP_001395376.1:p.Gln711Argfs frameshift NM_001408448.1:c.2128delC NP_001395377.1:p.Gln711Argfs frameshift NM_001408450.1:c.2128delC NP_001395379.1:p.Gln711Argfs frameshift NM_001408451.1:c.2122delC NP_001395380.1:p.Gln709Argfs frameshift NM_001408452.1:c.2116delC NP_001395381.1:p.Gln707Argfs frameshift NM_001408453.1:c.2116delC NP_001395382.1:p.Gln707Argfs frameshift NM_001408454.1:c.2116delC NP_001395383.1:p.Gln707Argfs frameshift NM_001408455.1:c.2116delC NP_001395384.1:p.Gln707Argfs frameshift NM_001408456.1:c.2116delC NP_001395385.1:p.Gln707Argfs frameshift NM_001408457.1:c.2116delC NP_001395386.1:p.Gln707Argfs frameshift NM_001408458.1:c.2113delC NP_001395387.1:p.Gln706Argfs frameshift NM_001408459.1:c.2113delC NP_001395388.1:p.Gln706Argfs frameshift NM_001408460.1:c.2113delC NP_001395389.1:p.Gln706Argfs frameshift NM_001408461.1:c.2113delC NP_001395390.1:p.Gln706Argfs frameshift NM_001408462.1:c.2113delC NP_001395391.1:p.Gln706Argfs frameshift NM_001408463.1:c.2113delC NP_001395392.1:p.Gln706Argfs frameshift NM_001408464.1:c.2113delC NP_001395393.1:p.Gln706Argfs frameshift NM_001408465.1:c.2113delC NP_001395394.1:p.Gln706Argfs frameshift NM_001408466.1:c.2113delC NP_001395395.1:p.Gln706Argfs frameshift NM_001408467.1:c.2113delC NP_001395396.1:p.Gln706Argfs frameshift NM_001408468.1:c.2110delC NP_001395397.1:p.Gln705Argfs frameshift NM_001408469.1:c.2110delC NP_001395398.1:p.Gln705Argfs frameshift NM_001408470.1:c.2110delC NP_001395399.1:p.Gln705Argfs frameshift NM_001408472.1:c.*80delC NM_001408473.1:c.*80delC NM_001408474.1:c.2056delC NP_001395403.1:p.Gln687Argfs frameshift NM_001408475.1:c.2053delC NP_001395404.1:p.Gln686Argfs frameshift NM_001408476.1:c.2053delC NP_001395405.1:p.Gln686Argfs frameshift NM_001408478.1:c.2047delC NP_001395407.1:p.Gln684Argfs frameshift NM_001408479.1:c.2047delC NP_001395408.1:p.Gln684Argfs frameshift NM_001408480.1:c.2047delC NP_001395409.1:p.Gln684Argfs frameshift NM_001408481.1:c.2044delC NP_001395410.1:p.Gln683Argfs frameshift NM_001408482.1:c.2044delC NP_001395411.1:p.Gln683Argfs frameshift NM_001408483.1:c.2044delC NP_001395412.1:p.Gln683Argfs frameshift NM_001408484.1:c.2044delC NP_001395413.1:p.Gln683Argfs frameshift NM_001408485.1:c.2044delC NP_001395414.1:p.Gln683Argfs frameshift NM_001408489.1:c.2044delC NP_001395418.1:p.Gln683Argfs frameshift NM_001408490.1:c.2044delC NP_001395419.1:p.Gln683Argfs frameshift NM_001408491.1:c.2044delC NP_001395420.1:p.Gln683Argfs frameshift NM_001408492.1:c.2041delC NP_001395421.1:p.Gln682Argfs frameshift NM_001408493.1:c.2041delC NP_001395422.1:p.Gln682Argfs frameshift NM_001408494.1:c.2017delC NP_001395423.1:p.Gln674Argfs frameshift NM_001408495.1:c.2011delC NP_001395424.1:p.Gln672Argfs frameshift NM_001408496.1:c.1993delC NP_001395425.1:p.Gln666Argfs frameshift NM_001408497.1:c.1993delC NP_001395426.1:p.Gln666Argfs frameshift NM_001408498.1:c.1993delC NP_001395427.1:p.Gln666Argfs frameshift NM_001408499.1:c.1993delC NP_001395428.1:p.Gln666Argfs frameshift NM_001408500.1:c.1993delC NP_001395429.1:p.Gln666Argfs frameshift NM_001408501.1:c.1993delC NP_001395430.1:p.Gln666Argfs frameshift NM_001408502.1:c.1990delC NP_001395431.1:p.Gln665Argfs frameshift NM_001408503.1:c.1990delC NP_001395432.1:p.Gln665Argfs frameshift NM_001408504.1:c.1990delC NP_001395433.1:p.Gln665Argfs frameshift NM_001408505.1:c.1987delC NP_001395434.1:p.Gln664Argfs frameshift NM_001408506.1:c.1930delC NP_001395435.1:p.Gln645Argfs frameshift NM_001408507.1:c.1927delC NP_001395436.1:p.Gln644Argfs frameshift NM_001408508.1:c.1918delC NP_001395437.1:p.Gln641Argfs frameshift NM_001408509.1:c.1915delC NP_001395438.1:p.Gln640Argfs frameshift NM_001408510.1:c.1876delC NP_001395439.1:p.Gln627Argfs frameshift NM_001408511.1:c.1873delC NP_001395440.1:p.Gln626Argfs frameshift NM_001408512.1:c.1753delC NP_001395441.1:p.Gln586Argfs frameshift NM_001408513.1:c.1726delC NP_001395442.1:p.Gln577Argfs frameshift NM_001408514.1:c.1330delC NP_001395443.1:p.Gln445Argfs frameshift NM_007294.3:c.5566delC NP_009225.1:p.Gln1857Argfs frameshift NM_007294.3:c.5569delC frameshift NM_007297.4:c.5428del NP_009228.2:p.Gln1810fs frameshift NM_007298.4:c.2254delC NP_009229.2:p.Gln753Argfs frameshift NM_007299.4:c.*83del 3 prime UTR NM_007300.4:c.5632del NP_009231.2:p.Gln1878fs frameshift NM_007304.2:c.2254delC NP_009235.2:p.Gln753Argfs frameshift NR_027676.2:n.5746del non-coding transcript variant NC_000017.11:g.43045704del NC_000017.10:g.41197721del NG_005905.2:g.172283del LRG_292:g.172283del LRG_292t1:c.5569del - Protein change
- Q1857fs, Q1810fs, Q1878fs, Q753fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045700:GGGG:GGG
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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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Likely pathogenic (1) |
criteria provided, single submitter
|
Dec 26, 2017 | RCV000254704.2 | |
Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
May 10, 2022 | RCV000465890.11 | |
Likely pathogenic (1) |
criteria provided, single submitter
|
Dec 14, 2021 | RCV002347973.1 |
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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Likely pathogenic
(May 15, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000699273.1
First in ClinVar: Dec 26, 2017 Last updated: Dec 26, 2017 |
Comment:
Variant summary: The BRCA1 c.5569delC (p.Gln1857Argfs) variant results in a frame-shift change, predicted to cause a replacement of the last 7 amino acids with 64 … (more)
Variant summary: The BRCA1 c.5569delC (p.Gln1857Argfs) variant results in a frame-shift change, predicted to cause a replacement of the last 7 amino acids with 64 incorrect amino acids. Non-sense mediated mRNA decay may not happen since this variant is close the C-terminus. This alteration affects the c-terminus, including part of the BCRT domain, which is important for DNA repair activity. One in silico tool predicts a benign outcome for this variant. This variant is absent in 121000 control chromosomes. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely pathogenic. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic. (less)
|
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Likely pathogenic
(Dec 26, 2017)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000322615.8
First in ClinVar: Oct 10, 2016 Last updated: Oct 10, 2016 |
Comment:
This deletion of one nucleotide in BRCA1 is denoted c.5569delC at the cDNA level and p.Gln1857ArgfsX65 (Q1857RfsX65) at the protein level. The normal sequence, with … (more)
This deletion of one nucleotide in BRCA1 is denoted c.5569delC at the cDNA level and p.Gln1857ArgfsX65 (Q1857RfsX65) at the protein level. The normal sequence, with the base that is deleted in brackets, is ACCC[delC]AGAT. Using alternate nomenclature, this variant would be defined as BRCA1 5688delC, and has not, to our knowledge, been reported in the literature. The deletion causes a frameshift which changes a Glutamine to an Arginine at codon 1857 in the last exon of the gene, and results in an extension of the protein. The last seven amino acids are replaced with 64 incorrect amino acids, disrupting a region known to interact with multiple proteins (Paul 2014). Based on currently available evidence, we consider this deletion to be a likely pathogenic variant. (less)
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Likely pathogenic
(Dec 14, 2021)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002650896.1
First in ClinVar: Nov 29, 2022 Last updated: Nov 29, 2022 |
Comment:
The c.5569delC variant, located in coding exon 22 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 5569, causing a … (more)
The c.5569delC variant, located in coding exon 22 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 5569, causing a translational frameshift, with a predicted alternate stop codon (p.Q1857Rfs*65). This alteration occurs at the 3' terminus of theBRCA1 gene, is not expected to trigger nonsense-mediated mRNAdecay and results in the elongation of the protein by 57 amino acids. This frameshift impacts the last 7 amino acids of the native protein. However, frameshifts are typically deleterious in nature and the impacted region is critical for protein function (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the majority of available evidence to date, this variant is likely to be pathogenic. (less)
Number of individuals with the variant: 1
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Likely pathogenic
(May 10, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000549427.9
First in ClinVar: Apr 17, 2017 Last updated: Feb 20, 2024 |
Comment:
This sequence change results in a frameshift in the BRCA1 gene (p.Gln1857Argfs*65). While this is not anticipated to result in nonsense mediated decay, it is … (more)
This sequence change results in a frameshift in the BRCA1 gene (p.Gln1857Argfs*65). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 7 amino acid(s) of the BRCA1 protein and extend the protein by 57 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This frameshift has been observed in individual(s) with BRCA1-related disease (PMID: 21520333; Invitae). ClinVar contains an entry for this variant (Variation ID: 265622). 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. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. (less)
|
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 |
LOVD v.2.0: the next generation in gene variant databases. | Fokkema IF | Human mutation | 2011 | PMID: 21520333 |
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 |
Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1. | Williams RS | Nature structural biology | 2001 | PMID: 11573086 |
Text-mined citations for rs886039675 ...
HelpRecord last updated Feb 20, 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.