ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5554_5558del (p.Thr1852fs)
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.5554_5558del (p.Thr1852fs)
Variation ID: 825825 Accession: VCV000825825.6
- Type and length
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Deletion, 5 bp
- Location
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Cytogenetic: 17q21.31 17: 43045712-43045716 (GRCh38) [ NCBI UCSC ] 17: 41197729-41197733 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 16, 2020 May 1, 2024 Jan 30, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5554_5558del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Thr1852fs frameshift NM_001407571.1:c.5341_5345delACCTA NP_001394500.1:p.Thr1781Profs frameshift NM_001407581.1:c.5620_5624delACCTA NP_001394510.1:p.Thr1874Profs frameshift NM_001407582.1:c.5620_5624delACCTA NP_001394511.1:p.Thr1874Profs frameshift NM_001407583.1:c.5617_5621delACCTA NP_001394512.1:p.Thr1873Profs frameshift NM_001407585.1:c.5617_5621delACCTA NP_001394514.1:p.Thr1873Profs frameshift NM_001407587.1:c.5617_5621delACCTA NP_001394516.1:p.Thr1873Profs frameshift NM_001407590.1:c.5614_5618delACCTA NP_001394519.1:p.Thr1872Profs frameshift NM_001407591.1:c.5614_5618delACCTA NP_001394520.1:p.Thr1872Profs frameshift NM_001407593.1:c.5554_5558delACCTA NP_001394522.1:p.Thr1852Profs frameshift NM_001407594.1:c.5554_5558delACCTA NP_001394523.1:p.Thr1852Profs frameshift NM_001407596.1:c.5554_5558delACCTA NP_001394525.1:p.Thr1852Profs frameshift NM_001407597.1:c.5554_5558delACCTA NP_001394526.1:p.Thr1852Profs frameshift NM_001407598.1:c.5554_5558delACCTA NP_001394527.1:p.Thr1852Profs frameshift NM_001407602.1:c.5554_5558delACCTA NP_001394531.1:p.Thr1852Profs frameshift NM_001407603.1:c.5554_5558delACCTA NP_001394532.1:p.Thr1852Profs frameshift NM_001407605.1:c.5554_5558delACCTA NP_001394534.1:p.Thr1852Profs frameshift NM_001407610.1:c.5551_5555delACCTA NP_001394539.1:p.Thr1851Profs frameshift NM_001407611.1:c.5551_5555delACCTA NP_001394540.1:p.Thr1851Profs frameshift NM_001407612.1:c.5551_5555delACCTA NP_001394541.1:p.Thr1851Profs frameshift NM_001407613.1:c.5551_5555delACCTA NP_001394542.1:p.Thr1851Profs frameshift NM_001407614.1:c.5551_5555delACCTA NP_001394543.1:p.Thr1851Profs frameshift NM_001407615.1:c.5551_5555delACCTA NP_001394544.1:p.Thr1851Profs frameshift NM_001407616.1:c.5551_5555delACCTA NP_001394545.1:p.Thr1851Profs frameshift NM_001407617.1:c.5551_5555delACCTA NP_001394546.1:p.Thr1851Profs frameshift NM_001407618.1:c.5551_5555delACCTA NP_001394547.1:p.Thr1851Profs frameshift NM_001407619.1:c.5551_5555delACCTA NP_001394548.1:p.Thr1851Profs frameshift NM_001407620.1:c.5551_5555delACCTA NP_001394549.1:p.Thr1851Profs frameshift NM_001407621.1:c.5551_5555delACCTA NP_001394550.1:p.Thr1851Profs frameshift NM_001407622.1:c.5551_5555delACCTA NP_001394551.1:p.Thr1851Profs frameshift NM_001407623.1:c.5551_5555delACCTA NP_001394552.1:p.Thr1851Profs frameshift NM_001407624.1:c.5551_5555delACCTA NP_001394553.1:p.Thr1851Profs frameshift NM_001407625.1:c.5551_5555delACCTA NP_001394554.1:p.Thr1851Profs frameshift NM_001407626.1:c.5551_5555delACCTA NP_001394555.1:p.Thr1851Profs frameshift NM_001407627.1:c.5548_5552delACCTA NP_001394556.1:p.Thr1850Profs frameshift NM_001407628.1:c.5548_5552delACCTA NP_001394557.1:p.Thr1850Profs frameshift NM_001407629.1:c.5548_5552delACCTA NP_001394558.1:p.Thr1850Profs frameshift NM_001407630.1:c.5548_5552delACCTA NP_001394559.1:p.Thr1850Profs frameshift NM_001407631.1:c.5548_5552delACCTA NP_001394560.1:p.Thr1850Profs frameshift NM_001407632.1:c.5548_5552delACCTA NP_001394561.1:p.Thr1850Profs frameshift NM_001407633.1:c.5548_5552delACCTA NP_001394562.1:p.Thr1850Profs frameshift NM_001407634.1:c.5548_5552delACCTA NP_001394563.1:p.Thr1850Profs frameshift NM_001407635.1:c.5548_5552delACCTA NP_001394564.1:p.Thr1850Profs frameshift NM_001407636.1:c.5548_5552delACCTA NP_001394565.1:p.Thr1850Profs frameshift NM_001407637.1:c.5548_5552delACCTA NP_001394566.1:p.Thr1850Profs frameshift NM_001407638.1:c.5548_5552delACCTA NP_001394567.1:p.Thr1850Profs frameshift NM_001407639.1:c.5548_5552delACCTA NP_001394568.1:p.Thr1850Profs frameshift NM_001407640.1:c.5548_5552delACCTA NP_001394569.1:p.Thr1850Profs frameshift NM_001407641.1:c.5548_5552delACCTA NP_001394570.1:p.Thr1850Profs frameshift NM_001407642.1:c.5548_5552delACCTA NP_001394571.1:p.Thr1850Profs frameshift NM_001407644.1:c.5545_5549delACCTA NP_001394573.1:p.Thr1849Profs frameshift NM_001407645.1:c.5545_5549delACCTA NP_001394574.1:p.Thr1849Profs frameshift NM_001407646.1:c.5542_5546delACCTA NP_001394575.1:p.Thr1848Profs frameshift NM_001407647.1:c.5539_5543delACCTA NP_001394576.1:p.Thr1847Profs frameshift NM_001407648.1:c.5497_5501delACCTA NP_001394577.1:p.Thr1833Profs frameshift NM_001407649.1:c.5494_5498delACCTA NP_001394578.1:p.Thr1832Profs frameshift NM_001407652.1:c.5476_5480delACCTA NP_001394581.1:p.Thr1826Profs frameshift NM_001407653.1:c.5476_5480delACCTA NP_001394582.1:p.Thr1826Profs frameshift NM_001407654.1:c.5476_5480delACCTA NP_001394583.1:p.Thr1826Profs frameshift NM_001407655.1:c.5476_5480delACCTA NP_001394584.1:p.Thr1826Profs frameshift NM_001407656.1:c.5473_5477delACCTA NP_001394585.1:p.Thr1825Profs frameshift NM_001407657.1:c.5473_5477delACCTA NP_001394586.1:p.Thr1825Profs frameshift NM_001407658.1:c.5473_5477delACCTA NP_001394587.1:p.Thr1825Profs frameshift NM_001407659.1:c.5470_5474delACCTA NP_001394588.1:p.Thr1824Profs frameshift NM_001407660.1:c.5470_5474delACCTA NP_001394589.1:p.Thr1824Profs frameshift NM_001407661.1:c.5470_5474delACCTA NP_001394590.1:p.Thr1824Profs frameshift NM_001407662.1:c.5470_5474delACCTA NP_001394591.1:p.Thr1824Profs frameshift NM_001407663.1:c.5470_5474delACCTA NP_001394592.1:p.Thr1824Profs frameshift NM_001407664.1:c.5431_5435delACCTA NP_001394593.1:p.Thr1811Profs frameshift NM_001407665.1:c.5431_5435delACCTA NP_001394594.1:p.Thr1811Profs frameshift NM_001407666.1:c.5431_5435delACCTA NP_001394595.1:p.Thr1811Profs frameshift NM_001407667.1:c.5431_5435delACCTA NP_001394596.1:p.Thr1811Profs frameshift NM_001407668.1:c.5431_5435delACCTA NP_001394597.1:p.Thr1811Profs frameshift NM_001407669.1:c.5431_5435delACCTA NP_001394598.1:p.Thr1811Profs frameshift NM_001407670.1:c.5428_5432delACCTA NP_001394599.1:p.Thr1810Profs frameshift NM_001407671.1:c.5428_5432delACCTA NP_001394600.1:p.Thr1810Profs frameshift NM_001407672.1:c.5428_5432delACCTA NP_001394601.1:p.Thr1810Profs frameshift NM_001407673.1:c.5428_5432delACCTA NP_001394602.1:p.Thr1810Profs frameshift NM_001407674.1:c.5428_5432delACCTA NP_001394603.1:p.Thr1810Profs frameshift NM_001407675.1:c.5428_5432delACCTA NP_001394604.1:p.Thr1810Profs frameshift NM_001407676.1:c.5428_5432delACCTA NP_001394605.1:p.Thr1810Profs frameshift NM_001407677.1:c.5428_5432delACCTA NP_001394606.1:p.Thr1810Profs frameshift NM_001407678.1:c.5428_5432delACCTA NP_001394607.1:p.Thr1810Profs frameshift NM_001407679.1:c.5428_5432delACCTA NP_001394608.1:p.Thr1810Profs frameshift NM_001407680.1:c.5428_5432delACCTA NP_001394609.1:p.Thr1810Profs frameshift NM_001407681.1:c.5425_5429delACCTA NP_001394610.1:p.Thr1809Profs frameshift NM_001407682.1:c.5425_5429delACCTA NP_001394611.1:p.Thr1809Profs frameshift NM_001407683.1:c.5425_5429delACCTA NP_001394612.1:p.Thr1809Profs frameshift NM_001407684.1:c.5425_5429delACCTA NP_001394613.1:p.Thr1809Profs frameshift NM_001407685.1:c.5425_5429delACCTA NP_001394614.1:p.Thr1809Profs frameshift NM_001407686.1:c.5425_5429delACCTA NP_001394615.1:p.Thr1809Profs frameshift NM_001407687.1:c.5425_5429delACCTA NP_001394616.1:p.Thr1809Profs frameshift NM_001407688.1:c.5425_5429delACCTA NP_001394617.1:p.Thr1809Profs frameshift NM_001407689.1:c.5425_5429delACCTA NP_001394618.1:p.Thr1809Profs frameshift NM_001407690.1:c.5422_5426delACCTA NP_001394619.1:p.Thr1808Profs frameshift NM_001407691.1:c.5422_5426delACCTA NP_001394620.1:p.Thr1808Profs frameshift NM_001407692.1:c.5413_5417delACCTA NP_001394621.1:p.Thr1805Profs frameshift NM_001407694.1:c.5413_5417delACCTA NP_001394623.1:p.Thr1805Profs frameshift NM_001407695.1:c.5413_5417delACCTA NP_001394624.1:p.Thr1805Profs frameshift NM_001407696.1:c.5413_5417delACCTA NP_001394625.1:p.Thr1805Profs frameshift NM_001407697.1:c.5413_5417delACCTA NP_001394626.1:p.Thr1805Profs frameshift NM_001407698.1:c.5413_5417delACCTA NP_001394627.1:p.Thr1805Profs frameshift NM_001407724.1:c.5413_5417delACCTA NP_001394653.1:p.Thr1805Profs frameshift NM_001407725.1:c.5413_5417delACCTA NP_001394654.1:p.Thr1805Profs frameshift NM_001407726.1:c.5413_5417delACCTA NP_001394655.1:p.Thr1805Profs frameshift NM_001407727.1:c.5413_5417delACCTA NP_001394656.1:p.Thr1805Profs frameshift NM_001407728.1:c.5413_5417delACCTA NP_001394657.1:p.Thr1805Profs frameshift NM_001407729.1:c.5413_5417delACCTA NP_001394658.1:p.Thr1805Profs frameshift NM_001407730.1:c.5413_5417delACCTA NP_001394659.1:p.Thr1805Profs frameshift NM_001407731.1:c.5413_5417delACCTA NP_001394660.1:p.Thr1805Profs frameshift NM_001407732.1:c.5410_5414delACCTA NP_001394661.1:p.Thr1804Profs frameshift NM_001407733.1:c.5410_5414delACCTA NP_001394662.1:p.Thr1804Profs frameshift NM_001407734.1:c.5410_5414delACCTA NP_001394663.1:p.Thr1804Profs frameshift NM_001407735.1:c.5410_5414delACCTA NP_001394664.1:p.Thr1804Profs frameshift NM_001407736.1:c.5410_5414delACCTA NP_001394665.1:p.Thr1804Profs frameshift NM_001407737.1:c.5410_5414delACCTA NP_001394666.1:p.Thr1804Profs frameshift NM_001407738.1:c.5410_5414delACCTA NP_001394667.1:p.Thr1804Profs frameshift NM_001407739.1:c.5410_5414delACCTA NP_001394668.1:p.Thr1804Profs frameshift NM_001407740.1:c.5410_5414delACCTA NP_001394669.1:p.Thr1804Profs frameshift NM_001407741.1:c.5410_5414delACCTA NP_001394670.1:p.Thr1804Profs frameshift NM_001407742.1:c.5410_5414delACCTA NP_001394671.1:p.Thr1804Profs frameshift NM_001407743.1:c.5410_5414delACCTA NP_001394672.1:p.Thr1804Profs frameshift NM_001407744.1:c.5410_5414delACCTA NP_001394673.1:p.Thr1804Profs frameshift NM_001407745.1:c.5410_5414delACCTA NP_001394674.1:p.Thr1804Profs frameshift NM_001407746.1:c.5410_5414delACCTA NP_001394675.1:p.Thr1804Profs frameshift NM_001407747.1:c.5410_5414delACCTA NP_001394676.1:p.Thr1804Profs frameshift NM_001407748.1:c.5410_5414delACCTA NP_001394677.1:p.Thr1804Profs frameshift NM_001407749.1:c.5410_5414delACCTA NP_001394678.1:p.Thr1804Profs frameshift NM_001407750.1:c.5410_5414delACCTA NP_001394679.1:p.Thr1804Profs frameshift NM_001407751.1:c.5410_5414delACCTA NP_001394680.1:p.Thr1804Profs frameshift NM_001407752.1:c.5410_5414delACCTA NP_001394681.1:p.Thr1804Profs frameshift NM_001407838.1:c.5407_5411delACCTA NP_001394767.1:p.Thr1803Profs frameshift NM_001407839.1:c.5407_5411delACCTA NP_001394768.1:p.Thr1803Profs frameshift NM_001407841.1:c.5407_5411delACCTA NP_001394770.1:p.Thr1803Profs frameshift NM_001407842.1:c.5407_5411delACCTA NP_001394771.1:p.Thr1803Profs frameshift NM_001407843.1:c.5407_5411delACCTA NP_001394772.1:p.Thr1803Profs frameshift NM_001407844.1:c.5407_5411delACCTA NP_001394773.1:p.Thr1803Profs frameshift NM_001407845.1:c.5407_5411delACCTA NP_001394774.1:p.Thr1803Profs frameshift NM_001407846.1:c.5407_5411delACCTA NP_001394775.1:p.Thr1803Profs frameshift NM_001407847.1:c.5407_5411delACCTA NP_001394776.1:p.Thr1803Profs frameshift NM_001407848.1:c.5407_5411delACCTA NP_001394777.1:p.Thr1803Profs frameshift NM_001407849.1:c.5407_5411delACCTA NP_001394778.1:p.Thr1803Profs frameshift NM_001407850.1:c.5407_5411delACCTA NP_001394779.1:p.Thr1803Profs frameshift NM_001407851.1:c.5407_5411delACCTA NP_001394780.1:p.Thr1803Profs frameshift NM_001407852.1:c.5407_5411delACCTA NP_001394781.1:p.Thr1803Profs frameshift NM_001407853.1:c.5407_5411delACCTA NP_001394782.1:p.Thr1803Profs frameshift NM_001407854.1:c.*68_*72delACCTA NM_001407858.1:c.*68_*72delACCTA NM_001407859.1:c.*68_*72delACCTA NM_001407860.1:c.*68_*72delACCTA NM_001407861.1:c.*68_*72delACCTA NM_001407862.1:c.5353_5357delACCTA NP_001394791.1:p.Thr1785Profs frameshift NM_001407863.1:c.5350_5354delACCTA NP_001394792.1:p.Thr1784Profs frameshift NM_001407874.1:c.5347_5351delACCTA NP_001394803.1:p.Thr1783Profs frameshift NM_001407875.1:c.5347_5351delACCTA NP_001394804.1:p.Thr1783Profs frameshift NM_001407879.1:c.5344_5348delACCTA NP_001394808.1:p.Thr1782Profs frameshift NM_001407881.1:c.5344_5348delACCTA NP_001394810.1:p.Thr1782Profs frameshift NM_001407882.1:c.5344_5348delACCTA NP_001394811.1:p.Thr1782Profs frameshift NM_001407884.1:c.5344_5348delACCTA NP_001394813.1:p.Thr1782Profs frameshift NM_001407885.1:c.5344_5348delACCTA NP_001394814.1:p.Thr1782Profs frameshift NM_001407886.1:c.5344_5348delACCTA NP_001394815.1:p.Thr1782Profs frameshift NM_001407887.1:c.5344_5348delACCTA NP_001394816.1:p.Thr1782Profs frameshift NM_001407889.1:c.5344_5348delACCTA NP_001394818.1:p.Thr1782Profs frameshift NM_001407894.1:c.5341_5345delACCTA NP_001394823.1:p.Thr1781Profs frameshift NM_001407895.1:c.5341_5345delACCTA NP_001394824.1:p.Thr1781Profs frameshift NM_001407896.1:c.5341_5345delACCTA NP_001394825.1:p.Thr1781Profs frameshift NM_001407897.1:c.5341_5345delACCTA NP_001394826.1:p.Thr1781Profs frameshift NM_001407898.1:c.5341_5345delACCTA NP_001394827.1:p.Thr1781Profs frameshift NM_001407899.1:c.5341_5345delACCTA NP_001394828.1:p.Thr1781Profs frameshift NM_001407900.1:c.5341_5345delACCTA NP_001394829.1:p.Thr1781Profs frameshift NM_001407902.1:c.5341_5345delACCTA NP_001394831.1:p.Thr1781Profs frameshift NM_001407904.1:c.5341_5345delACCTA NP_001394833.1:p.Thr1781Profs frameshift NM_001407906.1:c.5341_5345delACCTA NP_001394835.1:p.Thr1781Profs frameshift NM_001407907.1:c.5341_5345delACCTA NP_001394836.1:p.Thr1781Profs frameshift NM_001407908.1:c.5341_5345delACCTA NP_001394837.1:p.Thr1781Profs frameshift NM_001407909.1:c.5341_5345delACCTA NP_001394838.1:p.Thr1781Profs frameshift NM_001407910.1:c.5341_5345delACCTA NP_001394839.1:p.Thr1781Profs frameshift NM_001407915.1:c.5338_5342delACCTA NP_001394844.1:p.Thr1780Profs frameshift NM_001407916.1:c.5338_5342delACCTA NP_001394845.1:p.Thr1780Profs frameshift NM_001407917.1:c.5338_5342delACCTA NP_001394846.1:p.Thr1780Profs frameshift NM_001407918.1:c.5338_5342delACCTA NP_001394847.1:p.Thr1780Profs frameshift NM_001407919.1:c.5302_5306delACCTA NP_001394848.1:p.Thr1768Profs frameshift NM_001407920.1:c.5290_5294delACCTA NP_001394849.1:p.Thr1764Profs frameshift NM_001407921.1:c.5290_5294delACCTA NP_001394850.1:p.Thr1764Profs frameshift NM_001407922.1:c.5290_5294delACCTA NP_001394851.1:p.Thr1764Profs frameshift NM_001407923.1:c.5290_5294delACCTA NP_001394852.1:p.Thr1764Profs frameshift NM_001407924.1:c.5290_5294delACCTA NP_001394853.1:p.Thr1764Profs frameshift NM_001407925.1:c.5290_5294delACCTA NP_001394854.1:p.Thr1764Profs frameshift NM_001407926.1:c.5290_5294delACCTA NP_001394855.1:p.Thr1764Profs frameshift NM_001407927.1:c.5287_5291delACCTA NP_001394856.1:p.Thr1763Profs frameshift NM_001407928.1:c.5287_5291delACCTA NP_001394857.1:p.Thr1763Profs frameshift NM_001407929.1:c.5287_5291delACCTA NP_001394858.1:p.Thr1763Profs frameshift NM_001407930.1:c.5287_5291delACCTA NP_001394859.1:p.Thr1763Profs frameshift NM_001407931.1:c.5287_5291delACCTA NP_001394860.1:p.Thr1763Profs frameshift NM_001407932.1:c.5287_5291delACCTA NP_001394861.1:p.Thr1763Profs frameshift NM_001407933.1:c.5287_5291delACCTA NP_001394862.1:p.Thr1763Profs frameshift NM_001407934.1:c.5284_5288delACCTA NP_001394863.1:p.Thr1762Profs frameshift NM_001407935.1:c.5284_5288delACCTA NP_001394864.1:p.Thr1762Profs frameshift NM_001407936.1:c.5284_5288delACCTA NP_001394865.1:p.Thr1762Profs frameshift NM_001407937.1:c.*68_*72delACCTA NM_001407938.1:c.*68_*72delACCTA NM_001407939.1:c.*68_*72delACCTA NM_001407940.1:c.*68_*72delACCTA NM_001407941.1:c.*68_*72delACCTA NM_001407942.1:c.*68_*72delACCTA NM_001407943.1:c.*68_*72delACCTA NM_001407944.1:c.*68_*72delACCTA NM_001407945.1:c.*68_*72delACCTA NM_001407946.1:c.5221_5225delACCTA NP_001394875.1:p.Thr1741Profs frameshift NM_001407947.1:c.5221_5225delACCTA NP_001394876.1:p.Thr1741Profs frameshift NM_001407948.1:c.5221_5225delACCTA NP_001394877.1:p.Thr1741Profs frameshift NM_001407949.1:c.5221_5225delACCTA NP_001394878.1:p.Thr1741Profs frameshift NM_001407950.1:c.5218_5222delACCTA NP_001394879.1:p.Thr1740Profs frameshift NM_001407951.1:c.5218_5222delACCTA NP_001394880.1:p.Thr1740Profs frameshift NM_001407952.1:c.5218_5222delACCTA NP_001394881.1:p.Thr1740Profs frameshift NM_001407953.1:c.5218_5222delACCTA NP_001394882.1:p.Thr1740Profs frameshift NM_001407954.1:c.5218_5222delACCTA NP_001394883.1:p.Thr1740Profs frameshift NM_001407955.1:c.5218_5222delACCTA NP_001394884.1:p.Thr1740Profs frameshift NM_001407956.1:c.5215_5219delACCTA NP_001394885.1:p.Thr1739Profs frameshift NM_001407957.1:c.5215_5219delACCTA NP_001394886.1:p.Thr1739Profs frameshift NM_001407958.1:c.5215_5219delACCTA NP_001394887.1:p.Thr1739Profs frameshift NM_001407959.1:c.5173_5177delACCTA NP_001394888.1:p.Thr1725Profs frameshift NM_001407960.1:c.5170_5174delACCTA NP_001394889.1:p.Thr1724Profs frameshift NM_001407962.1:c.5170_5174delACCTA NP_001394891.1:p.Thr1724Profs frameshift NM_001407963.1:c.5167_5171delACCTA NP_001394892.1:p.Thr1723Profs frameshift NM_001407964.1:c.5092_5096delACCTA NP_001394893.1:p.Thr1698Profs frameshift NM_001407965.1:c.5047_5051delACCTA NP_001394894.1:p.Thr1683Profs frameshift NM_001407966.1:c.4666_4670delACCTA NP_001394895.1:p.Thr1556Profs frameshift NM_001407967.1:c.4663_4667delACCTA NP_001394896.1:p.Thr1555Profs frameshift NM_001407968.1:c.2950_2954delACCTA NP_001394897.1:p.Thr984Profs frameshift NM_001407969.1:c.2947_2951delACCTA NP_001394898.1:p.Thr983Profs frameshift NM_001407970.1:c.2311_2315delACCTA NP_001394899.1:p.Thr771Profs frameshift NM_001407971.1:c.2311_2315delACCTA NP_001394900.1:p.Thr771Profs frameshift NM_001407972.1:c.2308_2312delACCTA NP_001394901.1:p.Thr770Profs frameshift NM_001407973.1:c.2245_2249delACCTA NP_001394902.1:p.Thr749Profs frameshift NM_001407974.1:c.2245_2249delACCTA NP_001394903.1:p.Thr749Profs frameshift NM_001407975.1:c.2245_2249delACCTA NP_001394904.1:p.Thr749Profs frameshift NM_001407976.1:c.2245_2249delACCTA NP_001394905.1:p.Thr749Profs frameshift NM_001407977.1:c.2245_2249delACCTA NP_001394906.1:p.Thr749Profs frameshift NM_001407978.1:c.2245_2249delACCTA NP_001394907.1:p.Thr749Profs frameshift NM_001407979.1:c.2242_2246delACCTA NP_001394908.1:p.Thr748Profs frameshift NM_001407980.1:c.2242_2246delACCTA NP_001394909.1:p.Thr748Profs frameshift NM_001407981.1:c.2242_2246delACCTA NP_001394910.1:p.Thr748Profs frameshift NM_001407982.1:c.2242_2246delACCTA NP_001394911.1:p.Thr748Profs frameshift NM_001407983.1:c.2242_2246delACCTA NP_001394912.1:p.Thr748Profs frameshift NM_001407984.1:c.2242_2246delACCTA NP_001394913.1:p.Thr748Profs frameshift NM_001407985.1:c.2242_2246delACCTA NP_001394914.1:p.Thr748Profs frameshift NM_001407986.1:c.2242_2246delACCTA NP_001394915.1:p.Thr748Profs frameshift NM_001407990.1:c.2242_2246delACCTA NP_001394919.1:p.Thr748Profs frameshift NM_001407991.1:c.2242_2246delACCTA NP_001394920.1:p.Thr748Profs frameshift NM_001407992.1:c.2242_2246delACCTA NP_001394921.1:p.Thr748Profs frameshift NM_001407993.1:c.2242_2246delACCTA NP_001394922.1:p.Thr748Profs frameshift NM_001408392.1:c.2239_2243delACCTA NP_001395321.1:p.Thr747Profs frameshift NM_001408396.1:c.2239_2243delACCTA NP_001395325.1:p.Thr747Profs frameshift NM_001408397.1:c.2239_2243delACCTA NP_001395326.1:p.Thr747Profs frameshift NM_001408398.1:c.2239_2243delACCTA NP_001395327.1:p.Thr747Profs frameshift NM_001408399.1:c.2239_2243delACCTA NP_001395328.1:p.Thr747Profs frameshift NM_001408400.1:c.2239_2243delACCTA NP_001395329.1:p.Thr747Profs frameshift NM_001408401.1:c.2239_2243delACCTA NP_001395330.1:p.Thr747Profs frameshift NM_001408402.1:c.2239_2243delACCTA NP_001395331.1:p.Thr747Profs frameshift NM_001408403.1:c.2239_2243delACCTA NP_001395332.1:p.Thr747Profs frameshift NM_001408404.1:c.2239_2243delACCTA NP_001395333.1:p.Thr747Profs frameshift NM_001408406.1:c.2236_2240delACCTA NP_001395335.1:p.Thr746Profs frameshift NM_001408407.1:c.2236_2240delACCTA NP_001395336.1:p.Thr746Profs frameshift NM_001408408.1:c.2236_2240delACCTA NP_001395337.1:p.Thr746Profs frameshift NM_001408409.1:c.2233_2237delACCTA NP_001395338.1:p.Thr745Profs frameshift NM_001408410.1:c.2170_2174delACCTA NP_001395339.1:p.Thr724Profs frameshift NM_001408411.1:c.2167_2171delACCTA NP_001395340.1:p.Thr723Profs frameshift NM_001408412.1:c.2164_2168delACCTA NP_001395341.1:p.Thr722Profs frameshift NM_001408413.1:c.2164_2168delACCTA NP_001395342.1:p.Thr722Profs frameshift NM_001408414.1:c.2164_2168delACCTA NP_001395343.1:p.Thr722Profs frameshift NM_001408415.1:c.2164_2168delACCTA NP_001395344.1:p.Thr722Profs frameshift NM_001408416.1:c.2164_2168delACCTA NP_001395345.1:p.Thr722Profs frameshift NM_001408418.1:c.2128_2132delACCTA NP_001395347.1:p.Thr710Profs frameshift NM_001408419.1:c.2128_2132delACCTA NP_001395348.1:p.Thr710Profs frameshift NM_001408420.1:c.2128_2132delACCTA NP_001395349.1:p.Thr710Profs frameshift NM_001408421.1:c.2125_2129delACCTA NP_001395350.1:p.Thr709Profs frameshift NM_001408422.1:c.2125_2129delACCTA NP_001395351.1:p.Thr709Profs frameshift NM_001408423.1:c.2125_2129delACCTA NP_001395352.1:p.Thr709Profs frameshift NM_001408424.1:c.2125_2129delACCTA NP_001395353.1:p.Thr709Profs frameshift NM_001408425.1:c.2122_2126delACCTA NP_001395354.1:p.Thr708Profs frameshift NM_001408426.1:c.2122_2126delACCTA NP_001395355.1:p.Thr708Profs frameshift NM_001408427.1:c.2122_2126delACCTA NP_001395356.1:p.Thr708Profs frameshift NM_001408428.1:c.2122_2126delACCTA NP_001395357.1:p.Thr708Profs frameshift NM_001408429.1:c.2122_2126delACCTA NP_001395358.1:p.Thr708Profs frameshift NM_001408430.1:c.2122_2126delACCTA NP_001395359.1:p.Thr708Profs frameshift NM_001408431.1:c.2122_2126delACCTA NP_001395360.1:p.Thr708Profs frameshift NM_001408432.1:c.2119_2123delACCTA NP_001395361.1:p.Thr707Profs frameshift NM_001408433.1:c.2119_2123delACCTA NP_001395362.1:p.Thr707Profs frameshift NM_001408434.1:c.2119_2123delACCTA NP_001395363.1:p.Thr707Profs frameshift NM_001408435.1:c.2119_2123delACCTA NP_001395364.1:p.Thr707Profs frameshift NM_001408436.1:c.2119_2123delACCTA NP_001395365.1:p.Thr707Profs frameshift NM_001408437.1:c.2119_2123delACCTA NP_001395366.1:p.Thr707Profs frameshift NM_001408438.1:c.2119_2123delACCTA NP_001395367.1:p.Thr707Profs frameshift NM_001408439.1:c.2119_2123delACCTA NP_001395368.1:p.Thr707Profs frameshift NM_001408440.1:c.2119_2123delACCTA NP_001395369.1:p.Thr707Profs frameshift NM_001408441.1:c.2119_2123delACCTA NP_001395370.1:p.Thr707Profs frameshift NM_001408442.1:c.2119_2123delACCTA NP_001395371.1:p.Thr707Profs frameshift NM_001408443.1:c.2119_2123delACCTA NP_001395372.1:p.Thr707Profs frameshift NM_001408444.1:c.2119_2123delACCTA NP_001395373.1:p.Thr707Profs frameshift NM_001408445.1:c.2116_2120delACCTA NP_001395374.1:p.Thr706Profs frameshift NM_001408446.1:c.2116_2120delACCTA NP_001395375.1:p.Thr706Profs frameshift NM_001408447.1:c.2116_2120delACCTA NP_001395376.1:p.Thr706Profs frameshift NM_001408448.1:c.2116_2120delACCTA NP_001395377.1:p.Thr706Profs frameshift NM_001408450.1:c.2116_2120delACCTA NP_001395379.1:p.Thr706Profs frameshift NM_001408451.1:c.2110_2114delACCTA NP_001395380.1:p.Thr704Profs frameshift NM_001408452.1:c.2104_2108delACCTA NP_001395381.1:p.Thr702Profs frameshift NM_001408453.1:c.2104_2108delACCTA NP_001395382.1:p.Thr702Profs frameshift NM_001408454.1:c.2104_2108delACCTA NP_001395383.1:p.Thr702Profs frameshift NM_001408455.1:c.2104_2108delACCTA NP_001395384.1:p.Thr702Profs frameshift NM_001408456.1:c.2104_2108delACCTA NP_001395385.1:p.Thr702Profs frameshift NM_001408457.1:c.2104_2108delACCTA NP_001395386.1:p.Thr702Profs frameshift NM_001408458.1:c.2101_2105delACCTA NP_001395387.1:p.Thr701Profs frameshift NM_001408459.1:c.2101_2105delACCTA NP_001395388.1:p.Thr701Profs frameshift NM_001408460.1:c.2101_2105delACCTA NP_001395389.1:p.Thr701Profs frameshift NM_001408461.1:c.2101_2105delACCTA NP_001395390.1:p.Thr701Profs frameshift NM_001408462.1:c.2101_2105delACCTA NP_001395391.1:p.Thr701Profs frameshift NM_001408463.1:c.2101_2105delACCTA NP_001395392.1:p.Thr701Profs frameshift NM_001408464.1:c.2101_2105delACCTA NP_001395393.1:p.Thr701Profs frameshift NM_001408465.1:c.2101_2105delACCTA NP_001395394.1:p.Thr701Profs frameshift NM_001408466.1:c.2101_2105delACCTA NP_001395395.1:p.Thr701Profs frameshift NM_001408467.1:c.2101_2105delACCTA NP_001395396.1:p.Thr701Profs frameshift NM_001408468.1:c.2098_2102delACCTA NP_001395397.1:p.Thr700Profs frameshift NM_001408469.1:c.2098_2102delACCTA NP_001395398.1:p.Thr700Profs frameshift NM_001408470.1:c.2098_2102delACCTA NP_001395399.1:p.Thr700Profs frameshift NM_001408472.1:c.*68_*72delACCTA NM_001408473.1:c.*68_*72delACCTA NM_001408474.1:c.2044_2048delACCTA NP_001395403.1:p.Thr682Profs frameshift NM_001408475.1:c.2041_2045delACCTA NP_001395404.1:p.Thr681Profs frameshift NM_001408476.1:c.2041_2045delACCTA NP_001395405.1:p.Thr681Profs frameshift NM_001408478.1:c.2035_2039delACCTA NP_001395407.1:p.Thr679Profs frameshift NM_001408479.1:c.2035_2039delACCTA NP_001395408.1:p.Thr679Profs frameshift NM_001408480.1:c.2035_2039delACCTA NP_001395409.1:p.Thr679Profs frameshift NM_001408481.1:c.2032_2036delACCTA NP_001395410.1:p.Thr678Profs frameshift NM_001408482.1:c.2032_2036delACCTA NP_001395411.1:p.Thr678Profs frameshift NM_001408483.1:c.2032_2036delACCTA NP_001395412.1:p.Thr678Profs frameshift NM_001408484.1:c.2032_2036delACCTA NP_001395413.1:p.Thr678Profs frameshift NM_001408485.1:c.2032_2036delACCTA NP_001395414.1:p.Thr678Profs frameshift NM_001408489.1:c.2032_2036delACCTA NP_001395418.1:p.Thr678Profs frameshift NM_001408490.1:c.2032_2036delACCTA NP_001395419.1:p.Thr678Profs frameshift NM_001408491.1:c.2032_2036delACCTA NP_001395420.1:p.Thr678Profs frameshift NM_001408492.1:c.2029_2033delACCTA NP_001395421.1:p.Thr677Profs frameshift NM_001408493.1:c.2029_2033delACCTA NP_001395422.1:p.Thr677Profs frameshift NM_001408494.1:c.2005_2009delACCTA NP_001395423.1:p.Thr669Profs frameshift NM_001408495.1:c.1999_2003delACCTA NP_001395424.1:p.Thr667Profs frameshift NM_001408496.1:c.1981_1985delACCTA NP_001395425.1:p.Thr661Profs frameshift NM_001408497.1:c.1981_1985delACCTA NP_001395426.1:p.Thr661Profs frameshift NM_001408498.1:c.1981_1985delACCTA NP_001395427.1:p.Thr661Profs frameshift NM_001408499.1:c.1981_1985delACCTA NP_001395428.1:p.Thr661Profs frameshift NM_001408500.1:c.1981_1985delACCTA NP_001395429.1:p.Thr661Profs frameshift NM_001408501.1:c.1981_1985delACCTA NP_001395430.1:p.Thr661Profs frameshift NM_001408502.1:c.1978_1982delACCTA NP_001395431.1:p.Thr660Profs frameshift NM_001408503.1:c.1978_1982delACCTA NP_001395432.1:p.Thr660Profs frameshift NM_001408504.1:c.1978_1982delACCTA NP_001395433.1:p.Thr660Profs frameshift NM_001408505.1:c.1975_1979delACCTA NP_001395434.1:p.Thr659Profs frameshift NM_001408506.1:c.1918_1922delACCTA NP_001395435.1:p.Thr640Profs frameshift NM_001408507.1:c.1915_1919delACCTA NP_001395436.1:p.Thr639Profs frameshift NM_001408508.1:c.1906_1910delACCTA NP_001395437.1:p.Thr636Profs frameshift NM_001408509.1:c.1903_1907delACCTA NP_001395438.1:p.Thr635Profs frameshift NM_001408510.1:c.1864_1868delACCTA NP_001395439.1:p.Thr622Profs frameshift NM_001408511.1:c.1861_1865delACCTA NP_001395440.1:p.Thr621Profs frameshift NM_001408512.1:c.1741_1745delACCTA NP_001395441.1:p.Thr581Profs frameshift NM_001408513.1:c.1714_1718delACCTA NP_001395442.1:p.Thr572Profs frameshift NM_001408514.1:c.1318_1322delACCTA NP_001395443.1:p.Thr440Profs frameshift NM_007297.4:c.5413_5417del NP_009228.2:p.Thr1805fs frameshift NM_007298.4:c.2242_2246delACCTA NP_009229.2:p.Thr748Profs frameshift NM_007299.4:c.*68_*72del 3 prime UTR NM_007300.4:c.5617_5621del NP_009231.2:p.Thr1873fs frameshift NM_007304.2:c.2242_2246delACCTA NP_009235.2:p.Thr748Profs frameshift NR_027676.2:n.5731_5735del non-coding transcript variant NC_000017.11:g.43045712_43045716del NC_000017.10:g.41197729_41197733del NG_005905.2:g.172268_172272del LRG_292:g.172268_172272del LRG_292t1:c.5554_5558del LRG_292p1:p.Thr1852Profs - Protein change
- T1852fs, T1805fs, T1873fs, T748fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045711:TAGGT:
-
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 |
12894 | 14680 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Pathogenic (1) |
criteria provided, single submitter
|
Jan 30, 2023 | RCV001024269.5 |
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
(Jan 30, 2023)
|
criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV001186253.5
First in ClinVar: Mar 16, 2020 Last updated: May 01, 2024 |
Comment:
The c.5554_5558delACCTA pathogenic mutation, located in coding exon 22 of the BRCA1 gene, results from a deletion of 5 nucleotides at nucleotide positions 5554 to … (more)
The c.5554_5558delACCTA pathogenic mutation, located in coding exon 22 of the BRCA1 gene, results from a deletion of 5 nucleotides at nucleotide positions 5554 to 5558, causing a translational frameshift with a predicted alternate stop codon (p.T1852Pfs*26). This alteration occurs at the 3' terminus of the BRCA1 gene, is not expected to trigger nonsense-mediated mRNA decay, and results in the elongation of the protein by 13 amino acids. This frameshift impacts the last 12 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 was non-functional in an assay of transcriptional activation activity (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
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 rs1597796682 ...
HelpRecord last updated May 01, 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.