ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5557del (p.Tyr1853fs)
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.5557del (p.Tyr1853fs)
Variation ID: 2431328 Accession: VCV002431328.1
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045713 (GRCh38) [ NCBI UCSC ] 17: 41197730 (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 Mar 5, 2023 Mar 4, 2023 Feb 3, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5557del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Tyr1853fs frameshift NM_001407571.1:c.5344delT NP_001394500.1:p.Tyr1782Thrfs frameshift NM_001407581.1:c.5623delT NP_001394510.1:p.Tyr1875Thrfs frameshift NM_001407582.1:c.5623delT NP_001394511.1:p.Tyr1875Thrfs frameshift NM_001407583.1:c.5620delT NP_001394512.1:p.Tyr1874Thrfs frameshift NM_001407585.1:c.5620delT NP_001394514.1:p.Tyr1874Thrfs frameshift NM_001407587.1:c.5620delT NP_001394516.1:p.Tyr1874Thrfs frameshift NM_001407590.1:c.5617delT NP_001394519.1:p.Tyr1873Thrfs frameshift NM_001407591.1:c.5617delT NP_001394520.1:p.Tyr1873Thrfs frameshift NM_001407593.1:c.5557delT NP_001394522.1:p.Tyr1853Thrfs frameshift NM_001407594.1:c.5557delT NP_001394523.1:p.Tyr1853Thrfs frameshift NM_001407596.1:c.5557delT NP_001394525.1:p.Tyr1853Thrfs frameshift NM_001407597.1:c.5557delT NP_001394526.1:p.Tyr1853Thrfs frameshift NM_001407598.1:c.5557delT NP_001394527.1:p.Tyr1853Thrfs frameshift NM_001407602.1:c.5557delT NP_001394531.1:p.Tyr1853Thrfs frameshift NM_001407603.1:c.5557delT NP_001394532.1:p.Tyr1853Thrfs frameshift NM_001407605.1:c.5557delT NP_001394534.1:p.Tyr1853Thrfs frameshift NM_001407610.1:c.5554delT NP_001394539.1:p.Tyr1852Thrfs frameshift NM_001407611.1:c.5554delT NP_001394540.1:p.Tyr1852Thrfs frameshift NM_001407612.1:c.5554delT NP_001394541.1:p.Tyr1852Thrfs frameshift NM_001407613.1:c.5554delT NP_001394542.1:p.Tyr1852Thrfs frameshift NM_001407614.1:c.5554delT NP_001394543.1:p.Tyr1852Thrfs frameshift NM_001407615.1:c.5554delT NP_001394544.1:p.Tyr1852Thrfs frameshift NM_001407616.1:c.5554delT NP_001394545.1:p.Tyr1852Thrfs frameshift NM_001407617.1:c.5554delT NP_001394546.1:p.Tyr1852Thrfs frameshift NM_001407618.1:c.5554delT NP_001394547.1:p.Tyr1852Thrfs frameshift NM_001407619.1:c.5554delT NP_001394548.1:p.Tyr1852Thrfs frameshift NM_001407620.1:c.5554delT NP_001394549.1:p.Tyr1852Thrfs frameshift NM_001407621.1:c.5554delT NP_001394550.1:p.Tyr1852Thrfs frameshift NM_001407622.1:c.5554delT NP_001394551.1:p.Tyr1852Thrfs frameshift NM_001407623.1:c.5554delT NP_001394552.1:p.Tyr1852Thrfs frameshift NM_001407624.1:c.5554delT NP_001394553.1:p.Tyr1852Thrfs frameshift NM_001407625.1:c.5554delT NP_001394554.1:p.Tyr1852Thrfs frameshift NM_001407626.1:c.5554delT NP_001394555.1:p.Tyr1852Thrfs frameshift NM_001407627.1:c.5551delT NP_001394556.1:p.Tyr1851Thrfs frameshift NM_001407628.1:c.5551delT NP_001394557.1:p.Tyr1851Thrfs frameshift NM_001407629.1:c.5551delT NP_001394558.1:p.Tyr1851Thrfs frameshift NM_001407630.1:c.5551delT NP_001394559.1:p.Tyr1851Thrfs frameshift NM_001407631.1:c.5551delT NP_001394560.1:p.Tyr1851Thrfs frameshift NM_001407632.1:c.5551delT NP_001394561.1:p.Tyr1851Thrfs frameshift NM_001407633.1:c.5551delT NP_001394562.1:p.Tyr1851Thrfs frameshift NM_001407634.1:c.5551delT NP_001394563.1:p.Tyr1851Thrfs frameshift NM_001407635.1:c.5551delT NP_001394564.1:p.Tyr1851Thrfs frameshift NM_001407636.1:c.5551delT NP_001394565.1:p.Tyr1851Thrfs frameshift NM_001407637.1:c.5551delT NP_001394566.1:p.Tyr1851Thrfs frameshift NM_001407638.1:c.5551delT NP_001394567.1:p.Tyr1851Thrfs frameshift NM_001407639.1:c.5551delT NP_001394568.1:p.Tyr1851Thrfs frameshift NM_001407640.1:c.5551delT NP_001394569.1:p.Tyr1851Thrfs frameshift NM_001407641.1:c.5551delT NP_001394570.1:p.Tyr1851Thrfs frameshift NM_001407642.1:c.5551delT NP_001394571.1:p.Tyr1851Thrfs frameshift NM_001407644.1:c.5548delT NP_001394573.1:p.Tyr1850Thrfs frameshift NM_001407645.1:c.5548delT NP_001394574.1:p.Tyr1850Thrfs frameshift NM_001407646.1:c.5545delT NP_001394575.1:p.Tyr1849Thrfs frameshift NM_001407647.1:c.5542delT NP_001394576.1:p.Tyr1848Thrfs frameshift NM_001407648.1:c.5500delT NP_001394577.1:p.Tyr1834Thrfs frameshift NM_001407649.1:c.5497delT NP_001394578.1:p.Tyr1833Thrfs frameshift NM_001407652.1:c.5479delT NP_001394581.1:p.Tyr1827Thrfs frameshift NM_001407653.1:c.5479delT NP_001394582.1:p.Tyr1827Thrfs frameshift NM_001407654.1:c.5479delT NP_001394583.1:p.Tyr1827Thrfs frameshift NM_001407655.1:c.5479delT NP_001394584.1:p.Tyr1827Thrfs frameshift NM_001407656.1:c.5476delT NP_001394585.1:p.Tyr1826Thrfs frameshift NM_001407657.1:c.5476delT NP_001394586.1:p.Tyr1826Thrfs frameshift NM_001407658.1:c.5476delT NP_001394587.1:p.Tyr1826Thrfs frameshift NM_001407659.1:c.5473delT NP_001394588.1:p.Tyr1825Thrfs frameshift NM_001407660.1:c.5473delT NP_001394589.1:p.Tyr1825Thrfs frameshift NM_001407661.1:c.5473delT NP_001394590.1:p.Tyr1825Thrfs frameshift NM_001407662.1:c.5473delT NP_001394591.1:p.Tyr1825Thrfs frameshift NM_001407663.1:c.5473delT NP_001394592.1:p.Tyr1825Thrfs frameshift NM_001407664.1:c.5434delT NP_001394593.1:p.Tyr1812Thrfs frameshift NM_001407665.1:c.5434delT NP_001394594.1:p.Tyr1812Thrfs frameshift NM_001407666.1:c.5434delT NP_001394595.1:p.Tyr1812Thrfs frameshift NM_001407667.1:c.5434delT NP_001394596.1:p.Tyr1812Thrfs frameshift NM_001407668.1:c.5434delT NP_001394597.1:p.Tyr1812Thrfs frameshift NM_001407669.1:c.5434delT NP_001394598.1:p.Tyr1812Thrfs frameshift NM_001407670.1:c.5431delT NP_001394599.1:p.Tyr1811Thrfs frameshift NM_001407671.1:c.5431delT NP_001394600.1:p.Tyr1811Thrfs frameshift NM_001407672.1:c.5431delT NP_001394601.1:p.Tyr1811Thrfs frameshift NM_001407673.1:c.5431delT NP_001394602.1:p.Tyr1811Thrfs frameshift NM_001407674.1:c.5431delT NP_001394603.1:p.Tyr1811Thrfs frameshift NM_001407675.1:c.5431delT NP_001394604.1:p.Tyr1811Thrfs frameshift NM_001407676.1:c.5431delT NP_001394605.1:p.Tyr1811Thrfs frameshift NM_001407677.1:c.5431delT NP_001394606.1:p.Tyr1811Thrfs frameshift NM_001407678.1:c.5431delT NP_001394607.1:p.Tyr1811Thrfs frameshift NM_001407679.1:c.5431delT NP_001394608.1:p.Tyr1811Thrfs frameshift NM_001407680.1:c.5431delT NP_001394609.1:p.Tyr1811Thrfs frameshift NM_001407681.1:c.5428delT NP_001394610.1:p.Tyr1810Thrfs frameshift NM_001407682.1:c.5428delT NP_001394611.1:p.Tyr1810Thrfs frameshift NM_001407683.1:c.5428delT NP_001394612.1:p.Tyr1810Thrfs frameshift NM_001407684.1:c.5428delT NP_001394613.1:p.Tyr1810Thrfs frameshift NM_001407685.1:c.5428delT NP_001394614.1:p.Tyr1810Thrfs frameshift NM_001407686.1:c.5428delT NP_001394615.1:p.Tyr1810Thrfs frameshift NM_001407687.1:c.5428delT NP_001394616.1:p.Tyr1810Thrfs frameshift NM_001407688.1:c.5428delT NP_001394617.1:p.Tyr1810Thrfs frameshift NM_001407689.1:c.5428delT NP_001394618.1:p.Tyr1810Thrfs frameshift NM_001407690.1:c.5425delT NP_001394619.1:p.Tyr1809Thrfs frameshift NM_001407691.1:c.5425delT NP_001394620.1:p.Tyr1809Thrfs frameshift NM_001407692.1:c.5416delT NP_001394621.1:p.Tyr1806Thrfs frameshift NM_001407694.1:c.5416delT NP_001394623.1:p.Tyr1806Thrfs frameshift NM_001407695.1:c.5416delT NP_001394624.1:p.Tyr1806Thrfs frameshift NM_001407696.1:c.5416delT NP_001394625.1:p.Tyr1806Thrfs frameshift NM_001407697.1:c.5416delT NP_001394626.1:p.Tyr1806Thrfs frameshift NM_001407698.1:c.5416delT NP_001394627.1:p.Tyr1806Thrfs frameshift NM_001407724.1:c.5416delT NP_001394653.1:p.Tyr1806Thrfs frameshift NM_001407725.1:c.5416delT NP_001394654.1:p.Tyr1806Thrfs frameshift NM_001407726.1:c.5416delT NP_001394655.1:p.Tyr1806Thrfs frameshift NM_001407727.1:c.5416delT NP_001394656.1:p.Tyr1806Thrfs frameshift NM_001407728.1:c.5416delT NP_001394657.1:p.Tyr1806Thrfs frameshift NM_001407729.1:c.5416delT NP_001394658.1:p.Tyr1806Thrfs frameshift NM_001407730.1:c.5416delT NP_001394659.1:p.Tyr1806Thrfs frameshift NM_001407731.1:c.5416delT NP_001394660.1:p.Tyr1806Thrfs frameshift NM_001407732.1:c.5413delT NP_001394661.1:p.Tyr1805Thrfs frameshift NM_001407733.1:c.5413delT NP_001394662.1:p.Tyr1805Thrfs frameshift NM_001407734.1:c.5413delT NP_001394663.1:p.Tyr1805Thrfs frameshift NM_001407735.1:c.5413delT NP_001394664.1:p.Tyr1805Thrfs frameshift NM_001407736.1:c.5413delT NP_001394665.1:p.Tyr1805Thrfs frameshift NM_001407737.1:c.5413delT NP_001394666.1:p.Tyr1805Thrfs frameshift NM_001407738.1:c.5413delT NP_001394667.1:p.Tyr1805Thrfs frameshift NM_001407739.1:c.5413delT NP_001394668.1:p.Tyr1805Thrfs frameshift NM_001407740.1:c.5413delT NP_001394669.1:p.Tyr1805Thrfs frameshift NM_001407741.1:c.5413delT NP_001394670.1:p.Tyr1805Thrfs frameshift NM_001407742.1:c.5413delT NP_001394671.1:p.Tyr1805Thrfs frameshift NM_001407743.1:c.5413delT NP_001394672.1:p.Tyr1805Thrfs frameshift NM_001407744.1:c.5413delT NP_001394673.1:p.Tyr1805Thrfs frameshift NM_001407745.1:c.5413delT NP_001394674.1:p.Tyr1805Thrfs frameshift NM_001407746.1:c.5413delT NP_001394675.1:p.Tyr1805Thrfs frameshift NM_001407747.1:c.5413delT NP_001394676.1:p.Tyr1805Thrfs frameshift NM_001407748.1:c.5413delT NP_001394677.1:p.Tyr1805Thrfs frameshift NM_001407749.1:c.5413delT NP_001394678.1:p.Tyr1805Thrfs frameshift NM_001407750.1:c.5413delT NP_001394679.1:p.Tyr1805Thrfs frameshift NM_001407751.1:c.5413delT NP_001394680.1:p.Tyr1805Thrfs frameshift NM_001407752.1:c.5413delT NP_001394681.1:p.Tyr1805Thrfs frameshift NM_001407838.1:c.5410delT NP_001394767.1:p.Tyr1804Thrfs frameshift NM_001407839.1:c.5410delT NP_001394768.1:p.Tyr1804Thrfs frameshift NM_001407841.1:c.5410delT NP_001394770.1:p.Tyr1804Thrfs frameshift NM_001407842.1:c.5410delT NP_001394771.1:p.Tyr1804Thrfs frameshift NM_001407843.1:c.5410delT NP_001394772.1:p.Tyr1804Thrfs frameshift NM_001407844.1:c.5410delT NP_001394773.1:p.Tyr1804Thrfs frameshift NM_001407845.1:c.5410delT NP_001394774.1:p.Tyr1804Thrfs frameshift NM_001407846.1:c.5410delT NP_001394775.1:p.Tyr1804Thrfs frameshift NM_001407847.1:c.5410delT NP_001394776.1:p.Tyr1804Thrfs frameshift NM_001407848.1:c.5410delT NP_001394777.1:p.Tyr1804Thrfs frameshift NM_001407849.1:c.5410delT NP_001394778.1:p.Tyr1804Thrfs frameshift NM_001407850.1:c.5410delT NP_001394779.1:p.Tyr1804Thrfs frameshift NM_001407851.1:c.5410delT NP_001394780.1:p.Tyr1804Thrfs frameshift NM_001407852.1:c.5410delT NP_001394781.1:p.Tyr1804Thrfs frameshift NM_001407853.1:c.5410delT NP_001394782.1:p.Tyr1804Thrfs frameshift NM_001407854.1:c.*71delT NM_001407858.1:c.*71delT NM_001407859.1:c.*71delT NM_001407860.1:c.*71delT NM_001407861.1:c.*71delT NM_001407862.1:c.5356delT NP_001394791.1:p.Tyr1786Thrfs frameshift NM_001407863.1:c.5353delT NP_001394792.1:p.Tyr1785Thrfs frameshift NM_001407874.1:c.5350delT NP_001394803.1:p.Tyr1784Thrfs frameshift NM_001407875.1:c.5350delT NP_001394804.1:p.Tyr1784Thrfs frameshift NM_001407879.1:c.5347delT NP_001394808.1:p.Tyr1783Thrfs frameshift NM_001407881.1:c.5347delT NP_001394810.1:p.Tyr1783Thrfs frameshift NM_001407882.1:c.5347delT NP_001394811.1:p.Tyr1783Thrfs frameshift NM_001407884.1:c.5347delT NP_001394813.1:p.Tyr1783Thrfs frameshift NM_001407885.1:c.5347delT NP_001394814.1:p.Tyr1783Thrfs frameshift NM_001407886.1:c.5347delT NP_001394815.1:p.Tyr1783Thrfs frameshift NM_001407887.1:c.5347delT NP_001394816.1:p.Tyr1783Thrfs frameshift NM_001407889.1:c.5347delT NP_001394818.1:p.Tyr1783Thrfs frameshift NM_001407894.1:c.5344delT NP_001394823.1:p.Tyr1782Thrfs frameshift NM_001407895.1:c.5344delT NP_001394824.1:p.Tyr1782Thrfs frameshift NM_001407896.1:c.5344delT NP_001394825.1:p.Tyr1782Thrfs frameshift NM_001407897.1:c.5344delT NP_001394826.1:p.Tyr1782Thrfs frameshift NM_001407898.1:c.5344delT NP_001394827.1:p.Tyr1782Thrfs frameshift NM_001407899.1:c.5344delT NP_001394828.1:p.Tyr1782Thrfs frameshift NM_001407900.1:c.5344delT NP_001394829.1:p.Tyr1782Thrfs frameshift NM_001407902.1:c.5344delT NP_001394831.1:p.Tyr1782Thrfs frameshift NM_001407904.1:c.5344delT NP_001394833.1:p.Tyr1782Thrfs frameshift NM_001407906.1:c.5344delT NP_001394835.1:p.Tyr1782Thrfs frameshift NM_001407907.1:c.5344delT NP_001394836.1:p.Tyr1782Thrfs frameshift NM_001407908.1:c.5344delT NP_001394837.1:p.Tyr1782Thrfs frameshift NM_001407909.1:c.5344delT NP_001394838.1:p.Tyr1782Thrfs frameshift NM_001407910.1:c.5344delT NP_001394839.1:p.Tyr1782Thrfs frameshift NM_001407915.1:c.5341delT NP_001394844.1:p.Tyr1781Thrfs frameshift NM_001407916.1:c.5341delT NP_001394845.1:p.Tyr1781Thrfs frameshift NM_001407917.1:c.5341delT NP_001394846.1:p.Tyr1781Thrfs frameshift NM_001407918.1:c.5341delT NP_001394847.1:p.Tyr1781Thrfs frameshift NM_001407919.1:c.5305delT NP_001394848.1:p.Tyr1769Thrfs frameshift NM_001407920.1:c.5293delT NP_001394849.1:p.Tyr1765Thrfs frameshift NM_001407921.1:c.5293delT NP_001394850.1:p.Tyr1765Thrfs frameshift NM_001407922.1:c.5293delT NP_001394851.1:p.Tyr1765Thrfs frameshift NM_001407923.1:c.5293delT NP_001394852.1:p.Tyr1765Thrfs frameshift NM_001407924.1:c.5293delT NP_001394853.1:p.Tyr1765Thrfs frameshift NM_001407925.1:c.5293delT NP_001394854.1:p.Tyr1765Thrfs frameshift NM_001407926.1:c.5293delT NP_001394855.1:p.Tyr1765Thrfs frameshift NM_001407927.1:c.5290delT NP_001394856.1:p.Tyr1764Thrfs frameshift NM_001407928.1:c.5290delT NP_001394857.1:p.Tyr1764Thrfs frameshift NM_001407929.1:c.5290delT NP_001394858.1:p.Tyr1764Thrfs frameshift NM_001407930.1:c.5290delT NP_001394859.1:p.Tyr1764Thrfs frameshift NM_001407931.1:c.5290delT NP_001394860.1:p.Tyr1764Thrfs frameshift NM_001407932.1:c.5290delT NP_001394861.1:p.Tyr1764Thrfs frameshift NM_001407933.1:c.5290delT NP_001394862.1:p.Tyr1764Thrfs frameshift NM_001407934.1:c.5287delT NP_001394863.1:p.Tyr1763Thrfs frameshift NM_001407935.1:c.5287delT NP_001394864.1:p.Tyr1763Thrfs frameshift NM_001407936.1:c.5287delT NP_001394865.1:p.Tyr1763Thrfs frameshift NM_001407937.1:c.*71delT NM_001407938.1:c.*71delT NM_001407939.1:c.*71delT NM_001407940.1:c.*71delT NM_001407941.1:c.*71delT NM_001407942.1:c.*71delT NM_001407943.1:c.*71delT NM_001407944.1:c.*71delT NM_001407945.1:c.*71delT NM_001407946.1:c.5224delT NP_001394875.1:p.Tyr1742Thrfs frameshift NM_001407947.1:c.5224delT NP_001394876.1:p.Tyr1742Thrfs frameshift NM_001407948.1:c.5224delT NP_001394877.1:p.Tyr1742Thrfs frameshift NM_001407949.1:c.5224delT NP_001394878.1:p.Tyr1742Thrfs frameshift NM_001407950.1:c.5221delT NP_001394879.1:p.Tyr1741Thrfs frameshift NM_001407951.1:c.5221delT NP_001394880.1:p.Tyr1741Thrfs frameshift NM_001407952.1:c.5221delT NP_001394881.1:p.Tyr1741Thrfs frameshift NM_001407953.1:c.5221delT NP_001394882.1:p.Tyr1741Thrfs frameshift NM_001407954.1:c.5221delT NP_001394883.1:p.Tyr1741Thrfs frameshift NM_001407955.1:c.5221delT NP_001394884.1:p.Tyr1741Thrfs frameshift NM_001407956.1:c.5218delT NP_001394885.1:p.Tyr1740Thrfs frameshift NM_001407957.1:c.5218delT NP_001394886.1:p.Tyr1740Thrfs frameshift NM_001407958.1:c.5218delT NP_001394887.1:p.Tyr1740Thrfs frameshift NM_001407959.1:c.5176delT NP_001394888.1:p.Tyr1726Thrfs frameshift NM_001407960.1:c.5173delT NP_001394889.1:p.Tyr1725Thrfs frameshift NM_001407962.1:c.5173delT NP_001394891.1:p.Tyr1725Thrfs frameshift NM_001407963.1:c.5170delT NP_001394892.1:p.Tyr1724Thrfs frameshift NM_001407964.1:c.5095delT NP_001394893.1:p.Tyr1699Thrfs frameshift NM_001407965.1:c.5050delT NP_001394894.1:p.Tyr1684Thrfs frameshift NM_001407966.1:c.4669delT NP_001394895.1:p.Tyr1557Thrfs frameshift NM_001407967.1:c.4666delT NP_001394896.1:p.Tyr1556Thrfs frameshift NM_001407968.1:c.2953delT NP_001394897.1:p.Tyr985Thrfs frameshift NM_001407969.1:c.2950delT NP_001394898.1:p.Tyr984Thrfs frameshift NM_001407970.1:c.2314delT NP_001394899.1:p.Tyr772Thrfs frameshift NM_001407971.1:c.2314delT NP_001394900.1:p.Tyr772Thrfs frameshift NM_001407972.1:c.2311delT NP_001394901.1:p.Tyr771Thrfs frameshift NM_001407973.1:c.2248delT NP_001394902.1:p.Tyr750Thrfs frameshift NM_001407974.1:c.2248delT NP_001394903.1:p.Tyr750Thrfs frameshift NM_001407975.1:c.2248delT NP_001394904.1:p.Tyr750Thrfs frameshift NM_001407976.1:c.2248delT NP_001394905.1:p.Tyr750Thrfs frameshift NM_001407977.1:c.2248delT NP_001394906.1:p.Tyr750Thrfs frameshift NM_001407978.1:c.2248delT NP_001394907.1:p.Tyr750Thrfs frameshift NM_001407979.1:c.2245delT NP_001394908.1:p.Tyr749Thrfs frameshift NM_001407980.1:c.2245delT NP_001394909.1:p.Tyr749Thrfs frameshift NM_001407981.1:c.2245delT NP_001394910.1:p.Tyr749Thrfs frameshift NM_001407982.1:c.2245delT NP_001394911.1:p.Tyr749Thrfs frameshift NM_001407983.1:c.2245delT NP_001394912.1:p.Tyr749Thrfs frameshift NM_001407984.1:c.2245delT NP_001394913.1:p.Tyr749Thrfs frameshift NM_001407985.1:c.2245delT NP_001394914.1:p.Tyr749Thrfs frameshift NM_001407986.1:c.2245delT NP_001394915.1:p.Tyr749Thrfs frameshift NM_001407990.1:c.2245delT NP_001394919.1:p.Tyr749Thrfs frameshift NM_001407991.1:c.2245delT NP_001394920.1:p.Tyr749Thrfs frameshift NM_001407992.1:c.2245delT NP_001394921.1:p.Tyr749Thrfs frameshift NM_001407993.1:c.2245delT NP_001394922.1:p.Tyr749Thrfs frameshift NM_001408392.1:c.2242delT NP_001395321.1:p.Tyr748Thrfs frameshift NM_001408396.1:c.2242delT NP_001395325.1:p.Tyr748Thrfs frameshift NM_001408397.1:c.2242delT NP_001395326.1:p.Tyr748Thrfs frameshift NM_001408398.1:c.2242delT NP_001395327.1:p.Tyr748Thrfs frameshift NM_001408399.1:c.2242delT NP_001395328.1:p.Tyr748Thrfs frameshift NM_001408400.1:c.2242delT NP_001395329.1:p.Tyr748Thrfs frameshift NM_001408401.1:c.2242delT NP_001395330.1:p.Tyr748Thrfs frameshift NM_001408402.1:c.2242delT NP_001395331.1:p.Tyr748Thrfs frameshift NM_001408403.1:c.2242delT NP_001395332.1:p.Tyr748Thrfs frameshift NM_001408404.1:c.2242delT NP_001395333.1:p.Tyr748Thrfs frameshift NM_001408406.1:c.2239delT NP_001395335.1:p.Tyr747Thrfs frameshift NM_001408407.1:c.2239delT NP_001395336.1:p.Tyr747Thrfs frameshift NM_001408408.1:c.2239delT NP_001395337.1:p.Tyr747Thrfs frameshift NM_001408409.1:c.2236delT NP_001395338.1:p.Tyr746Thrfs frameshift NM_001408410.1:c.2173delT NP_001395339.1:p.Tyr725Thrfs frameshift NM_001408411.1:c.2170delT NP_001395340.1:p.Tyr724Thrfs frameshift NM_001408412.1:c.2167delT NP_001395341.1:p.Tyr723Thrfs frameshift NM_001408413.1:c.2167delT NP_001395342.1:p.Tyr723Thrfs frameshift NM_001408414.1:c.2167delT NP_001395343.1:p.Tyr723Thrfs frameshift NM_001408415.1:c.2167delT NP_001395344.1:p.Tyr723Thrfs frameshift NM_001408416.1:c.2167delT NP_001395345.1:p.Tyr723Thrfs frameshift NM_001408418.1:c.2131delT NP_001395347.1:p.Tyr711Thrfs frameshift NM_001408419.1:c.2131delT NP_001395348.1:p.Tyr711Thrfs frameshift NM_001408420.1:c.2131delT NP_001395349.1:p.Tyr711Thrfs frameshift NM_001408421.1:c.2128delT NP_001395350.1:p.Tyr710Thrfs frameshift NM_001408422.1:c.2128delT NP_001395351.1:p.Tyr710Thrfs frameshift NM_001408423.1:c.2128delT NP_001395352.1:p.Tyr710Thrfs frameshift NM_001408424.1:c.2128delT NP_001395353.1:p.Tyr710Thrfs frameshift NM_001408425.1:c.2125delT NP_001395354.1:p.Tyr709Thrfs frameshift NM_001408426.1:c.2125delT NP_001395355.1:p.Tyr709Thrfs frameshift NM_001408427.1:c.2125delT NP_001395356.1:p.Tyr709Thrfs frameshift NM_001408428.1:c.2125delT NP_001395357.1:p.Tyr709Thrfs frameshift NM_001408429.1:c.2125delT NP_001395358.1:p.Tyr709Thrfs frameshift NM_001408430.1:c.2125delT NP_001395359.1:p.Tyr709Thrfs frameshift NM_001408431.1:c.2125delT NP_001395360.1:p.Tyr709Thrfs frameshift NM_001408432.1:c.2122delT NP_001395361.1:p.Tyr708Thrfs frameshift NM_001408433.1:c.2122delT NP_001395362.1:p.Tyr708Thrfs frameshift NM_001408434.1:c.2122delT NP_001395363.1:p.Tyr708Thrfs frameshift NM_001408435.1:c.2122delT NP_001395364.1:p.Tyr708Thrfs frameshift NM_001408436.1:c.2122delT NP_001395365.1:p.Tyr708Thrfs frameshift NM_001408437.1:c.2122delT NP_001395366.1:p.Tyr708Thrfs frameshift NM_001408438.1:c.2122delT NP_001395367.1:p.Tyr708Thrfs frameshift NM_001408439.1:c.2122delT NP_001395368.1:p.Tyr708Thrfs frameshift NM_001408440.1:c.2122delT NP_001395369.1:p.Tyr708Thrfs frameshift NM_001408441.1:c.2122delT NP_001395370.1:p.Tyr708Thrfs frameshift NM_001408442.1:c.2122delT NP_001395371.1:p.Tyr708Thrfs frameshift NM_001408443.1:c.2122delT NP_001395372.1:p.Tyr708Thrfs frameshift NM_001408444.1:c.2122delT NP_001395373.1:p.Tyr708Thrfs frameshift NM_001408445.1:c.2119delT NP_001395374.1:p.Tyr707Thrfs frameshift NM_001408446.1:c.2119delT NP_001395375.1:p.Tyr707Thrfs frameshift NM_001408447.1:c.2119delT NP_001395376.1:p.Tyr707Thrfs frameshift NM_001408448.1:c.2119delT NP_001395377.1:p.Tyr707Thrfs frameshift NM_001408450.1:c.2119delT NP_001395379.1:p.Tyr707Thrfs frameshift NM_001408451.1:c.2113delT NP_001395380.1:p.Tyr705Thrfs frameshift NM_001408452.1:c.2107delT NP_001395381.1:p.Tyr703Thrfs frameshift NM_001408453.1:c.2107delT NP_001395382.1:p.Tyr703Thrfs frameshift NM_001408454.1:c.2107delT NP_001395383.1:p.Tyr703Thrfs frameshift NM_001408455.1:c.2107delT NP_001395384.1:p.Tyr703Thrfs frameshift NM_001408456.1:c.2107delT NP_001395385.1:p.Tyr703Thrfs frameshift NM_001408457.1:c.2107delT NP_001395386.1:p.Tyr703Thrfs frameshift NM_001408458.1:c.2104delT NP_001395387.1:p.Tyr702Thrfs frameshift NM_001408459.1:c.2104delT NP_001395388.1:p.Tyr702Thrfs frameshift NM_001408460.1:c.2104delT NP_001395389.1:p.Tyr702Thrfs frameshift NM_001408461.1:c.2104delT NP_001395390.1:p.Tyr702Thrfs frameshift NM_001408462.1:c.2104delT NP_001395391.1:p.Tyr702Thrfs frameshift NM_001408463.1:c.2104delT NP_001395392.1:p.Tyr702Thrfs frameshift NM_001408464.1:c.2104delT NP_001395393.1:p.Tyr702Thrfs frameshift NM_001408465.1:c.2104delT NP_001395394.1:p.Tyr702Thrfs frameshift NM_001408466.1:c.2104delT NP_001395395.1:p.Tyr702Thrfs frameshift NM_001408467.1:c.2104delT NP_001395396.1:p.Tyr702Thrfs frameshift NM_001408468.1:c.2101delT NP_001395397.1:p.Tyr701Thrfs frameshift NM_001408469.1:c.2101delT NP_001395398.1:p.Tyr701Thrfs frameshift NM_001408470.1:c.2101delT NP_001395399.1:p.Tyr701Thrfs frameshift NM_001408472.1:c.*71delT NM_001408473.1:c.*71delT NM_001408474.1:c.2047delT NP_001395403.1:p.Tyr683Thrfs frameshift NM_001408475.1:c.2044delT NP_001395404.1:p.Tyr682Thrfs frameshift NM_001408476.1:c.2044delT NP_001395405.1:p.Tyr682Thrfs frameshift NM_001408478.1:c.2038delT NP_001395407.1:p.Tyr680Thrfs frameshift NM_001408479.1:c.2038delT NP_001395408.1:p.Tyr680Thrfs frameshift NM_001408480.1:c.2038delT NP_001395409.1:p.Tyr680Thrfs frameshift NM_001408481.1:c.2035delT NP_001395410.1:p.Tyr679Thrfs frameshift NM_001408482.1:c.2035delT NP_001395411.1:p.Tyr679Thrfs frameshift NM_001408483.1:c.2035delT NP_001395412.1:p.Tyr679Thrfs frameshift NM_001408484.1:c.2035delT NP_001395413.1:p.Tyr679Thrfs frameshift NM_001408485.1:c.2035delT NP_001395414.1:p.Tyr679Thrfs frameshift NM_001408489.1:c.2035delT NP_001395418.1:p.Tyr679Thrfs frameshift NM_001408490.1:c.2035delT NP_001395419.1:p.Tyr679Thrfs frameshift NM_001408491.1:c.2035delT NP_001395420.1:p.Tyr679Thrfs frameshift NM_001408492.1:c.2032delT NP_001395421.1:p.Tyr678Thrfs frameshift NM_001408493.1:c.2032delT NP_001395422.1:p.Tyr678Thrfs frameshift NM_001408494.1:c.2008delT NP_001395423.1:p.Tyr670Thrfs frameshift NM_001408495.1:c.2002delT NP_001395424.1:p.Tyr668Thrfs frameshift NM_001408496.1:c.1984delT NP_001395425.1:p.Tyr662Thrfs frameshift NM_001408497.1:c.1984delT NP_001395426.1:p.Tyr662Thrfs frameshift NM_001408498.1:c.1984delT NP_001395427.1:p.Tyr662Thrfs frameshift NM_001408499.1:c.1984delT NP_001395428.1:p.Tyr662Thrfs frameshift NM_001408500.1:c.1984delT NP_001395429.1:p.Tyr662Thrfs frameshift NM_001408501.1:c.1984delT NP_001395430.1:p.Tyr662Thrfs frameshift NM_001408502.1:c.1981delT NP_001395431.1:p.Tyr661Thrfs frameshift NM_001408503.1:c.1981delT NP_001395432.1:p.Tyr661Thrfs frameshift NM_001408504.1:c.1981delT NP_001395433.1:p.Tyr661Thrfs frameshift NM_001408505.1:c.1978delT NP_001395434.1:p.Tyr660Thrfs frameshift NM_001408506.1:c.1921delT NP_001395435.1:p.Tyr641Thrfs frameshift NM_001408507.1:c.1918delT NP_001395436.1:p.Tyr640Thrfs frameshift NM_001408508.1:c.1909delT NP_001395437.1:p.Tyr637Thrfs frameshift NM_001408509.1:c.1906delT NP_001395438.1:p.Tyr636Thrfs frameshift NM_001408510.1:c.1867delT NP_001395439.1:p.Tyr623Thrfs frameshift NM_001408511.1:c.1864delT NP_001395440.1:p.Tyr622Thrfs frameshift NM_001408512.1:c.1744delT NP_001395441.1:p.Tyr582Thrfs frameshift NM_001408513.1:c.1717delT NP_001395442.1:p.Tyr573Thrfs frameshift NM_001408514.1:c.1321delT NP_001395443.1:p.Tyr441Thrfs frameshift NM_007297.4:c.5416del NP_009228.2:p.Tyr1806fs frameshift NM_007298.4:c.2245delT NP_009229.2:p.Tyr749Thrfs frameshift NM_007299.4:c.*71del 3 prime UTR NM_007300.4:c.5620del NP_009231.2:p.Tyr1874fs frameshift NM_007304.2:c.2245delT NP_009235.2:p.Tyr749Thrfs frameshift NR_027676.2:n.5734del non-coding transcript variant NC_000017.11:g.43045713del NC_000017.10:g.41197730del NG_005905.2:g.172271del LRG_292:g.172271del LRG_292t1:c.5557del LRG_292p1:p.Tyr1853Thrfs - Protein change
- Y1806fs, Y1853fs, Y1874fs, Y749fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045712:A:
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12795 | 14565 |
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. |
---|---|---|---|---|
Likely pathogenic (1) |
criteria provided, single submitter
|
Feb 3, 2023 | RCV003140388.1 |
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. |
|
---|---|---|---|---|---|
Likely pathogenic
(Feb 03, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Myriad Genetics, Inc.
Accession: SCV003806674.1
First in ClinVar: Mar 04, 2023 Last updated: Mar 04, 2023 |
Comment:
This variant is considered likely pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
|
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 this variant ...
HelpRecord last updated Mar 30, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.