ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5425_5430del (p.Val1809_Val1810del)
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.5425_5430del (p.Val1809_Val1810del)
Variation ID: 55574 Accession: VCV000055574.13
- Type and length
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Deletion, 6 bp
- Location
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Cytogenetic: 17q21.31 17: 43047680-43047685 (GRCh38) [ NCBI UCSC ] 17: 41199697-41199702 (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 Apr 1, 2014 May 1, 2024 Feb 14, 2019 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5425_5430del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Val1809_Val1810del inframe deletion NM_001407571.1:c.5207_5212delTTGTGG NP_001394500.1:p.Val1738_Val1739del inframe indel NM_001407581.1:c.5486_5491delTTGTGG NP_001394510.1:p.Val1831_Val1832del inframe indel NM_001407582.1:c.5486_5491delTTGTGG NP_001394511.1:p.Val1831_Val1832del inframe indel NM_001407583.1:c.5483_5488delTTGTGG NP_001394512.1:p.Val1830_Val1831del inframe indel NM_001407585.1:c.5483_5488delTTGTGG NP_001394514.1:p.Val1830_Val1831del inframe indel NM_001407587.1:c.5483_5488delTTGTGG NP_001394516.1:p.Val1830_Val1831del inframe indel NM_001407590.1:c.5480_5485delTTGTGG NP_001394519.1:p.Val1829_Val1830del inframe indel NM_001407591.1:c.5480_5485delTTGTGG NP_001394520.1:p.Val1829_Val1830del inframe indel NM_001407593.1:c.5420_5425delTTGTGG NP_001394522.1:p.Val1809_Val1810del inframe indel NM_001407594.1:c.5420_5425delTTGTGG NP_001394523.1:p.Val1809_Val1810del inframe indel NM_001407596.1:c.5420_5425delTTGTGG NP_001394525.1:p.Val1809_Val1810del inframe indel NM_001407597.1:c.5420_5425delTTGTGG NP_001394526.1:p.Val1809_Val1810del inframe indel NM_001407598.1:c.5420_5425delTTGTGG NP_001394527.1:p.Val1809_Val1810del inframe indel NM_001407602.1:c.5420_5425delTTGTGG NP_001394531.1:p.Val1809_Val1810del inframe indel NM_001407603.1:c.5420_5425delTTGTGG NP_001394532.1:p.Val1809_Val1810del inframe indel NM_001407605.1:c.5420_5425delTTGTGG NP_001394534.1:p.Val1809_Val1810del inframe indel NM_001407610.1:c.5417_5422delTTGTGG NP_001394539.1:p.Val1808_Val1809del inframe indel NM_001407611.1:c.5417_5422delTTGTGG NP_001394540.1:p.Val1808_Val1809del inframe indel NM_001407612.1:c.5417_5422delTTGTGG NP_001394541.1:p.Val1808_Val1809del inframe indel NM_001407613.1:c.5417_5422delTTGTGG NP_001394542.1:p.Val1808_Val1809del inframe indel NM_001407614.1:c.5417_5422delTTGTGG NP_001394543.1:p.Val1808_Val1809del inframe indel NM_001407615.1:c.5417_5422delTTGTGG NP_001394544.1:p.Val1808_Val1809del inframe indel NM_001407616.1:c.5417_5422delTTGTGG NP_001394545.1:p.Val1808_Val1809del inframe indel NM_001407617.1:c.5417_5422delTTGTGG NP_001394546.1:p.Val1808_Val1809del inframe indel NM_001407618.1:c.5417_5422delTTGTGG NP_001394547.1:p.Val1808_Val1809del inframe indel NM_001407619.1:c.5417_5422delTTGTGG NP_001394548.1:p.Val1808_Val1809del inframe indel NM_001407620.1:c.5417_5422delTTGTGG NP_001394549.1:p.Val1808_Val1809del inframe indel NM_001407621.1:c.5417_5422delTTGTGG NP_001394550.1:p.Val1808_Val1809del inframe indel NM_001407622.1:c.5417_5422delTTGTGG NP_001394551.1:p.Val1808_Val1809del inframe indel NM_001407623.1:c.5417_5422delTTGTGG NP_001394552.1:p.Val1808_Val1809del inframe indel NM_001407624.1:c.5417_5422delTTGTGG NP_001394553.1:p.Val1808_Val1809del inframe indel NM_001407625.1:c.5417_5422delTTGTGG NP_001394554.1:p.Val1808_Val1809del inframe indel NM_001407626.1:c.5417_5422delTTGTGG NP_001394555.1:p.Val1808_Val1809del inframe indel NM_001407627.1:c.5414_5419delTTGTGG NP_001394556.1:p.Val1807_Val1808del inframe indel NM_001407628.1:c.5414_5419delTTGTGG NP_001394557.1:p.Val1807_Val1808del inframe indel NM_001407629.1:c.5414_5419delTTGTGG NP_001394558.1:p.Val1807_Val1808del inframe indel NM_001407630.1:c.5414_5419delTTGTGG NP_001394559.1:p.Val1807_Val1808del inframe indel NM_001407631.1:c.5414_5419delTTGTGG NP_001394560.1:p.Val1807_Val1808del inframe indel NM_001407632.1:c.5414_5419delTTGTGG NP_001394561.1:p.Val1807_Val1808del inframe indel NM_001407633.1:c.5414_5419delTTGTGG NP_001394562.1:p.Val1807_Val1808del inframe indel NM_001407634.1:c.5414_5419delTTGTGG NP_001394563.1:p.Val1807_Val1808del inframe indel NM_001407635.1:c.5414_5419delTTGTGG NP_001394564.1:p.Val1807_Val1808del inframe indel NM_001407636.1:c.5414_5419delTTGTGG NP_001394565.1:p.Val1807_Val1808del inframe indel NM_001407637.1:c.5414_5419delTTGTGG NP_001394566.1:p.Val1807_Val1808del inframe indel NM_001407638.1:c.5414_5419delTTGTGG NP_001394567.1:p.Val1807_Val1808del inframe indel NM_001407639.1:c.5414_5419delTTGTGG NP_001394568.1:p.Val1807_Val1808del inframe indel NM_001407640.1:c.5414_5419delTTGTGG NP_001394569.1:p.Val1807_Val1808del inframe indel NM_001407641.1:c.5414_5419delTTGTGG NP_001394570.1:p.Val1807_Val1808del inframe indel NM_001407642.1:c.5414_5419delTTGTGG NP_001394571.1:p.Val1807_Val1808del inframe indel NM_001407644.1:c.5411_5416delTTGTGG NP_001394573.1:p.Val1806_Val1807del inframe indel NM_001407645.1:c.5411_5416delTTGTGG NP_001394574.1:p.Val1806_Val1807del inframe indel NM_001407646.1:c.5408_5413delTTGTGG NP_001394575.1:p.Val1805_Val1806del inframe indel NM_001407647.1:c.5405_5410delTTGTGG NP_001394576.1:p.Val1804_Val1805del inframe indel NM_001407648.1:c.5363_5368delTTGTGG NP_001394577.1:p.Val1790_Val1791del inframe indel NM_001407649.1:c.5360_5365delTTGTGG NP_001394578.1:p.Val1789_Val1790del inframe indel NM_001407652.1:c.5342_5347delTTGTGG NP_001394581.1:p.Val1783_Val1784del inframe indel NM_001407653.1:c.5342_5347delTTGTGG NP_001394582.1:p.Val1783_Val1784del inframe indel NM_001407654.1:c.5342_5347delTTGTGG NP_001394583.1:p.Val1783_Val1784del inframe indel NM_001407655.1:c.5342_5347delTTGTGG NP_001394584.1:p.Val1783_Val1784del inframe indel NM_001407656.1:c.5339_5344delTTGTGG NP_001394585.1:p.Val1782_Val1783del inframe indel NM_001407657.1:c.5339_5344delTTGTGG NP_001394586.1:p.Val1782_Val1783del inframe indel NM_001407658.1:c.5339_5344delTTGTGG NP_001394587.1:p.Val1782_Val1783del inframe indel NM_001407659.1:c.5336_5341delTTGTGG NP_001394588.1:p.Val1781_Val1782del inframe indel NM_001407660.1:c.5336_5341delTTGTGG NP_001394589.1:p.Val1781_Val1782del inframe indel NM_001407661.1:c.5336_5341delTTGTGG NP_001394590.1:p.Val1781_Val1782del inframe indel NM_001407662.1:c.5336_5341delTTGTGG NP_001394591.1:p.Val1781_Val1782del inframe indel NM_001407663.1:c.5336_5341delTTGTGG NP_001394592.1:p.Val1781_Val1782del inframe indel NM_001407664.1:c.5297_5302delTTGTGG NP_001394593.1:p.Val1768_Val1769del inframe indel NM_001407665.1:c.5297_5302delTTGTGG NP_001394594.1:p.Val1768_Val1769del inframe indel NM_001407666.1:c.5297_5302delTTGTGG NP_001394595.1:p.Val1768_Val1769del inframe indel NM_001407667.1:c.5297_5302delTTGTGG NP_001394596.1:p.Val1768_Val1769del inframe indel NM_001407668.1:c.5297_5302delTTGTGG NP_001394597.1:p.Val1768_Val1769del inframe indel NM_001407669.1:c.5297_5302delTTGTGG NP_001394598.1:p.Val1768_Val1769del inframe indel NM_001407670.1:c.5294_5299delTTGTGG NP_001394599.1:p.Val1767_Val1768del inframe indel NM_001407671.1:c.5294_5299delTTGTGG NP_001394600.1:p.Val1767_Val1768del inframe indel NM_001407672.1:c.5294_5299delTTGTGG NP_001394601.1:p.Val1767_Val1768del inframe indel NM_001407673.1:c.5294_5299delTTGTGG NP_001394602.1:p.Val1767_Val1768del inframe indel NM_001407674.1:c.5294_5299delTTGTGG NP_001394603.1:p.Val1767_Val1768del inframe indel NM_001407675.1:c.5294_5299delTTGTGG NP_001394604.1:p.Val1767_Val1768del inframe indel NM_001407676.1:c.5294_5299delTTGTGG NP_001394605.1:p.Val1767_Val1768del inframe indel NM_001407677.1:c.5294_5299delTTGTGG NP_001394606.1:p.Val1767_Val1768del inframe indel NM_001407678.1:c.5294_5299delTTGTGG NP_001394607.1:p.Val1767_Val1768del inframe indel NM_001407679.1:c.5294_5299delTTGTGG NP_001394608.1:p.Val1767_Val1768del inframe indel NM_001407680.1:c.5294_5299delTTGTGG NP_001394609.1:p.Val1767_Val1768del inframe indel NM_001407681.1:c.5291_5296delTTGTGG NP_001394610.1:p.Val1766_Val1767del inframe indel NM_001407682.1:c.5291_5296delTTGTGG NP_001394611.1:p.Val1766_Val1767del inframe indel NM_001407683.1:c.5291_5296delTTGTGG NP_001394612.1:p.Val1766_Val1767del inframe indel NM_001407684.1:c.5291_5296delTTGTGG NP_001394613.1:p.Val1766_Val1767del inframe indel NM_001407685.1:c.5291_5296delTTGTGG NP_001394614.1:p.Val1766_Val1767del inframe indel NM_001407686.1:c.5291_5296delTTGTGG NP_001394615.1:p.Val1766_Val1767del inframe indel NM_001407687.1:c.5291_5296delTTGTGG NP_001394616.1:p.Val1766_Val1767del inframe indel NM_001407688.1:c.5291_5296delTTGTGG NP_001394617.1:p.Val1766_Val1767del inframe indel NM_001407689.1:c.5291_5296delTTGTGG NP_001394618.1:p.Val1766_Val1767del inframe indel NM_001407690.1:c.5288_5293delTTGTGG NP_001394619.1:p.Val1765_Val1766del inframe indel NM_001407691.1:c.5288_5293delTTGTGG NP_001394620.1:p.Val1765_Val1766del inframe indel NM_001407692.1:c.5279_5284delTTGTGG NP_001394621.1:p.Val1762_Val1763del inframe indel NM_001407694.1:c.5279_5284delTTGTGG NP_001394623.1:p.Val1762_Val1763del inframe indel NM_001407695.1:c.5279_5284delTTGTGG NP_001394624.1:p.Val1762_Val1763del inframe indel NM_001407696.1:c.5279_5284delTTGTGG NP_001394625.1:p.Val1762_Val1763del inframe indel NM_001407697.1:c.5279_5284delTTGTGG NP_001394626.1:p.Val1762_Val1763del inframe indel NM_001407698.1:c.5279_5284delTTGTGG NP_001394627.1:p.Val1762_Val1763del inframe indel NM_001407724.1:c.5279_5284delTTGTGG NP_001394653.1:p.Val1762_Val1763del inframe indel NM_001407725.1:c.5279_5284delTTGTGG NP_001394654.1:p.Val1762_Val1763del inframe indel NM_001407726.1:c.5279_5284delTTGTGG NP_001394655.1:p.Val1762_Val1763del inframe indel NM_001407727.1:c.5279_5284delTTGTGG NP_001394656.1:p.Val1762_Val1763del inframe indel NM_001407728.1:c.5279_5284delTTGTGG NP_001394657.1:p.Val1762_Val1763del inframe indel NM_001407729.1:c.5279_5284delTTGTGG NP_001394658.1:p.Val1762_Val1763del inframe indel NM_001407730.1:c.5279_5284delTTGTGG NP_001394659.1:p.Val1762_Val1763del inframe indel NM_001407731.1:c.5279_5284delTTGTGG NP_001394660.1:p.Val1762_Val1763del inframe indel NM_001407732.1:c.5276_5281delTTGTGG NP_001394661.1:p.Val1761_Val1762del inframe indel NM_001407733.1:c.5276_5281delTTGTGG NP_001394662.1:p.Val1761_Val1762del inframe indel NM_001407734.1:c.5276_5281delTTGTGG NP_001394663.1:p.Val1761_Val1762del inframe indel NM_001407735.1:c.5276_5281delTTGTGG NP_001394664.1:p.Val1761_Val1762del inframe indel NM_001407736.1:c.5276_5281delTTGTGG NP_001394665.1:p.Val1761_Val1762del inframe indel NM_001407737.1:c.5276_5281delTTGTGG NP_001394666.1:p.Val1761_Val1762del inframe indel NM_001407738.1:c.5276_5281delTTGTGG NP_001394667.1:p.Val1761_Val1762del inframe indel NM_001407739.1:c.5276_5281delTTGTGG NP_001394668.1:p.Val1761_Val1762del inframe indel NM_001407740.1:c.5276_5281delTTGTGG NP_001394669.1:p.Val1761_Val1762del inframe indel NM_001407741.1:c.5276_5281delTTGTGG NP_001394670.1:p.Val1761_Val1762del inframe indel NM_001407742.1:c.5276_5281delTTGTGG NP_001394671.1:p.Val1761_Val1762del inframe indel NM_001407743.1:c.5276_5281delTTGTGG NP_001394672.1:p.Val1761_Val1762del inframe indel NM_001407744.1:c.5276_5281delTTGTGG NP_001394673.1:p.Val1761_Val1762del inframe indel NM_001407745.1:c.5276_5281delTTGTGG NP_001394674.1:p.Val1761_Val1762del inframe indel NM_001407746.1:c.5276_5281delTTGTGG NP_001394675.1:p.Val1761_Val1762del inframe indel NM_001407747.1:c.5276_5281delTTGTGG NP_001394676.1:p.Val1761_Val1762del inframe indel NM_001407748.1:c.5276_5281delTTGTGG NP_001394677.1:p.Val1761_Val1762del inframe indel NM_001407749.1:c.5276_5281delTTGTGG NP_001394678.1:p.Val1761_Val1762del inframe indel NM_001407750.1:c.5276_5281delTTGTGG NP_001394679.1:p.Val1761_Val1762del inframe indel NM_001407751.1:c.5276_5281delTTGTGG NP_001394680.1:p.Val1761_Val1762del inframe indel NM_001407752.1:c.5276_5281delTTGTGG NP_001394681.1:p.Val1761_Val1762del inframe indel NM_001407838.1:c.5273_5278delTTGTGG NP_001394767.1:p.Val1760_Val1761del inframe indel NM_001407839.1:c.5273_5278delTTGTGG NP_001394768.1:p.Val1760_Val1761del inframe indel NM_001407841.1:c.5273_5278delTTGTGG NP_001394770.1:p.Val1760_Val1761del inframe indel NM_001407842.1:c.5273_5278delTTGTGG NP_001394771.1:p.Val1760_Val1761del inframe indel NM_001407843.1:c.5273_5278delTTGTGG NP_001394772.1:p.Val1760_Val1761del inframe indel NM_001407844.1:c.5273_5278delTTGTGG NP_001394773.1:p.Val1760_Val1761del inframe indel NM_001407845.1:c.5273_5278delTTGTGG NP_001394774.1:p.Val1760_Val1761del inframe indel NM_001407846.1:c.5273_5278delTTGTGG NP_001394775.1:p.Val1760_Val1761del inframe indel NM_001407847.1:c.5273_5278delTTGTGG NP_001394776.1:p.Val1760_Val1761del inframe indel NM_001407848.1:c.5273_5278delTTGTGG NP_001394777.1:p.Val1760_Val1761del inframe indel NM_001407849.1:c.5273_5278delTTGTGG NP_001394778.1:p.Val1760_Val1761del inframe indel NM_001407850.1:c.5273_5278delTTGTGG NP_001394779.1:p.Val1760_Val1761del inframe indel NM_001407851.1:c.5273_5278delTTGTGG NP_001394780.1:p.Val1760_Val1761del inframe indel NM_001407852.1:c.5273_5278delTTGTGG NP_001394781.1:p.Val1760_Val1761del inframe indel NM_001407853.1:c.5273_5278delTTGTGG NP_001394782.1:p.Val1760_Val1761del inframe indel NM_001407854.1:c.5346_5351delTTGTGG NP_001394783.1:p.Gly1784_Cys1785del inframe indel NM_001407858.1:c.5343_5348delTTGTGG NP_001394787.1:p.Gly1783_Cys1784del inframe indel NM_001407859.1:c.5343_5348delTTGTGG NP_001394788.1:p.Gly1783_Cys1784del inframe indel NM_001407860.1:c.5343_5348delTTGTGG NP_001394789.1:p.Gly1783_Cys1784del inframe indel NM_001407861.1:c.5340_5345delTTGTGG NP_001394790.1:p.Gly1782_Cys1783del inframe indel NM_001407862.1:c.5219_5224delTTGTGG NP_001394791.1:p.Val1742_Val1743del inframe indel NM_001407863.1:c.5216_5221delTTGTGG NP_001394792.1:p.Val1741_Val1742del inframe indel NM_001407874.1:c.5213_5218delTTGTGG NP_001394803.1:p.Val1740_Val1741del inframe indel NM_001407875.1:c.5213_5218delTTGTGG NP_001394804.1:p.Val1740_Val1741del inframe indel NM_001407879.1:c.5210_5215delTTGTGG NP_001394808.1:p.Val1739_Val1740del inframe indel NM_001407881.1:c.5210_5215delTTGTGG NP_001394810.1:p.Val1739_Val1740del inframe indel NM_001407882.1:c.5210_5215delTTGTGG NP_001394811.1:p.Val1739_Val1740del inframe indel NM_001407884.1:c.5210_5215delTTGTGG NP_001394813.1:p.Val1739_Val1740del inframe indel NM_001407885.1:c.5210_5215delTTGTGG NP_001394814.1:p.Val1739_Val1740del inframe indel NM_001407886.1:c.5210_5215delTTGTGG NP_001394815.1:p.Val1739_Val1740del inframe indel NM_001407887.1:c.5210_5215delTTGTGG NP_001394816.1:p.Val1739_Val1740del inframe indel NM_001407889.1:c.5210_5215delTTGTGG NP_001394818.1:p.Val1739_Val1740del inframe indel NM_001407894.1:c.5207_5212delTTGTGG NP_001394823.1:p.Val1738_Val1739del inframe indel NM_001407895.1:c.5207_5212delTTGTGG NP_001394824.1:p.Val1738_Val1739del inframe indel NM_001407896.1:c.5207_5212delTTGTGG NP_001394825.1:p.Val1738_Val1739del inframe indel NM_001407897.1:c.5207_5212delTTGTGG NP_001394826.1:p.Val1738_Val1739del inframe indel NM_001407898.1:c.5207_5212delTTGTGG NP_001394827.1:p.Val1738_Val1739del inframe indel NM_001407899.1:c.5207_5212delTTGTGG NP_001394828.1:p.Val1738_Val1739del inframe indel NM_001407900.1:c.5207_5212delTTGTGG NP_001394829.1:p.Val1738_Val1739del inframe indel NM_001407902.1:c.5207_5212delTTGTGG NP_001394831.1:p.Val1738_Val1739del inframe indel NM_001407904.1:c.5207_5212delTTGTGG NP_001394833.1:p.Val1738_Val1739del inframe indel NM_001407906.1:c.5207_5212delTTGTGG NP_001394835.1:p.Val1738_Val1739del inframe indel NM_001407907.1:c.5207_5212delTTGTGG NP_001394836.1:p.Val1738_Val1739del inframe indel NM_001407908.1:c.5207_5212delTTGTGG NP_001394837.1:p.Val1738_Val1739del inframe indel NM_001407909.1:c.5207_5212delTTGTGG NP_001394838.1:p.Val1738_Val1739del inframe indel NM_001407910.1:c.5207_5212delTTGTGG NP_001394839.1:p.Val1738_Val1739del inframe indel NM_001407915.1:c.5204_5209delTTGTGG NP_001394844.1:p.Val1737_Val1738del inframe indel NM_001407916.1:c.5204_5209delTTGTGG NP_001394845.1:p.Val1737_Val1738del inframe indel NM_001407917.1:c.5204_5209delTTGTGG NP_001394846.1:p.Val1737_Val1738del inframe indel NM_001407918.1:c.5204_5209delTTGTGG NP_001394847.1:p.Val1737_Val1738del inframe indel NM_001407919.1:c.5168_5173delTTGTGG NP_001394848.1:p.Val1725_Val1726del inframe indel NM_001407920.1:c.5156_5161delTTGTGG NP_001394849.1:p.Val1721_Val1722del inframe indel NM_001407921.1:c.5156_5161delTTGTGG NP_001394850.1:p.Val1721_Val1722del inframe indel NM_001407922.1:c.5156_5161delTTGTGG NP_001394851.1:p.Val1721_Val1722del inframe indel NM_001407923.1:c.5156_5161delTTGTGG NP_001394852.1:p.Val1721_Val1722del inframe indel NM_001407924.1:c.5156_5161delTTGTGG NP_001394853.1:p.Val1721_Val1722del inframe indel NM_001407925.1:c.5156_5161delTTGTGG NP_001394854.1:p.Val1721_Val1722del inframe indel NM_001407926.1:c.5156_5161delTTGTGG NP_001394855.1:p.Val1721_Val1722del inframe indel NM_001407927.1:c.5153_5158delTTGTGG NP_001394856.1:p.Val1720_Val1721del inframe indel NM_001407928.1:c.5153_5158delTTGTGG NP_001394857.1:p.Val1720_Val1721del inframe indel NM_001407929.1:c.5153_5158delTTGTGG NP_001394858.1:p.Val1720_Val1721del inframe indel NM_001407930.1:c.5153_5158delTTGTGG NP_001394859.1:p.Val1720_Val1721del inframe indel NM_001407931.1:c.5153_5158delTTGTGG NP_001394860.1:p.Val1720_Val1721del inframe indel NM_001407932.1:c.5153_5158delTTGTGG NP_001394861.1:p.Val1720_Val1721del inframe indel NM_001407933.1:c.5153_5158delTTGTGG NP_001394862.1:p.Val1720_Val1721del inframe indel NM_001407934.1:c.5150_5155delTTGTGG NP_001394863.1:p.Val1719_Val1720del inframe indel NM_001407935.1:c.5150_5155delTTGTGG NP_001394864.1:p.Val1719_Val1720del inframe indel NM_001407936.1:c.5150_5155delTTGTGG NP_001394865.1:p.Val1719_Val1720del inframe indel NM_001407937.1:c.5223_5228delTTGTGG NP_001394866.1:p.Gly1743_Cys1744del inframe indel NM_001407938.1:c.5223_5228delTTGTGG NP_001394867.1:p.Gly1743_Cys1744del inframe indel NM_001407939.1:c.5220_5225delTTGTGG NP_001394868.1:p.Gly1742_Cys1743del inframe indel NM_001407940.1:c.5220_5225delTTGTGG NP_001394869.1:p.Gly1742_Cys1743del inframe indel NM_001407941.1:c.5217_5222delTTGTGG NP_001394870.1:p.Gly1741_Cys1742del inframe indel NM_001407942.1:c.5205_5210delTTGTGG NP_001394871.1:p.Gly1737_Cys1738del inframe indel NM_001407943.1:c.5202_5207delTTGTGG NP_001394872.1:p.Gly1736_Cys1737del inframe indel NM_001407944.1:c.5202_5207delTTGTGG NP_001394873.1:p.Gly1736_Cys1737del inframe indel NM_001407945.1:c.5202_5207delTTGTGG NP_001394874.1:p.Gly1736_Cys1737del inframe indel NM_001407946.1:c.5087_5092delTTGTGG NP_001394875.1:p.Val1698_Val1699del inframe indel NM_001407947.1:c.5087_5092delTTGTGG NP_001394876.1:p.Val1698_Val1699del inframe indel NM_001407948.1:c.5087_5092delTTGTGG NP_001394877.1:p.Val1698_Val1699del inframe indel NM_001407949.1:c.5087_5092delTTGTGG NP_001394878.1:p.Val1698_Val1699del inframe indel NM_001407950.1:c.5084_5089delTTGTGG NP_001394879.1:p.Val1697_Val1698del inframe indel NM_001407951.1:c.5084_5089delTTGTGG NP_001394880.1:p.Val1697_Val1698del inframe indel NM_001407952.1:c.5084_5089delTTGTGG NP_001394881.1:p.Val1697_Val1698del inframe indel NM_001407953.1:c.5084_5089delTTGTGG NP_001394882.1:p.Val1697_Val1698del inframe indel NM_001407954.1:c.5084_5089delTTGTGG NP_001394883.1:p.Val1697_Val1698del inframe indel NM_001407955.1:c.5084_5089delTTGTGG NP_001394884.1:p.Val1697_Val1698del inframe indel NM_001407956.1:c.5081_5086delTTGTGG NP_001394885.1:p.Val1696_Val1697del inframe indel NM_001407957.1:c.5081_5086delTTGTGG NP_001394886.1:p.Val1696_Val1697del inframe indel NM_001407958.1:c.5081_5086delTTGTGG NP_001394887.1:p.Val1696_Val1697del inframe indel NM_001407959.1:c.5039_5044delTTGTGG NP_001394888.1:p.Val1682_Val1683del inframe indel NM_001407960.1:c.5036_5041delTTGTGG NP_001394889.1:p.Val1681_Val1682del inframe indel NM_001407962.1:c.5036_5041delTTGTGG NP_001394891.1:p.Val1681_Val1682del inframe indel NM_001407963.1:c.5033_5038delTTGTGG NP_001394892.1:p.Val1680_Val1681del inframe indel NM_001407964.1:c.4958_4963delTTGTGG NP_001394893.1:p.Val1655_Val1656del inframe indel NM_001407965.1:c.4913_4918delTTGTGG NP_001394894.1:p.Val1640_Val1641del inframe indel NM_001407966.1:c.4532_4537delTTGTGG NP_001394895.1:p.Val1513_Val1514del inframe indel NM_001407967.1:c.4529_4534delTTGTGG NP_001394896.1:p.Val1512_Val1513del inframe indel NM_001407968.1:c.2816_2821delTTGTGG NP_001394897.1:p.Val941_Val942del inframe indel NM_001407969.1:c.2813_2818delTTGTGG NP_001394898.1:p.Val940_Val941del inframe indel NM_001407970.1:c.2177_2182delTTGTGG NP_001394899.1:p.Val728_Val729del inframe indel NM_001407971.1:c.2177_2182delTTGTGG NP_001394900.1:p.Val728_Val729del inframe indel NM_001407972.1:c.2174_2179delTTGTGG NP_001394901.1:p.Val727_Val728del inframe indel NM_001407973.1:c.2111_2116delTTGTGG NP_001394902.1:p.Val706_Val707del inframe indel NM_001407974.1:c.2111_2116delTTGTGG NP_001394903.1:p.Val706_Val707del inframe indel NM_001407975.1:c.2111_2116delTTGTGG NP_001394904.1:p.Val706_Val707del inframe indel NM_001407976.1:c.2111_2116delTTGTGG NP_001394905.1:p.Val706_Val707del inframe indel NM_001407977.1:c.2111_2116delTTGTGG NP_001394906.1:p.Val706_Val707del inframe indel NM_001407978.1:c.2111_2116delTTGTGG NP_001394907.1:p.Val706_Val707del inframe indel NM_001407979.1:c.2108_2113delTTGTGG NP_001394908.1:p.Val705_Val706del inframe indel NM_001407980.1:c.2108_2113delTTGTGG NP_001394909.1:p.Val705_Val706del inframe indel NM_001407981.1:c.2108_2113delTTGTGG NP_001394910.1:p.Val705_Val706del inframe indel NM_001407982.1:c.2108_2113delTTGTGG NP_001394911.1:p.Val705_Val706del inframe indel NM_001407983.1:c.2108_2113delTTGTGG NP_001394912.1:p.Val705_Val706del inframe indel NM_001407984.1:c.2108_2113delTTGTGG NP_001394913.1:p.Val705_Val706del inframe indel NM_001407985.1:c.2108_2113delTTGTGG NP_001394914.1:p.Val705_Val706del inframe indel NM_001407986.1:c.2108_2113delTTGTGG NP_001394915.1:p.Val705_Val706del inframe indel NM_001407990.1:c.2108_2113delTTGTGG NP_001394919.1:p.Val705_Val706del inframe indel NM_001407991.1:c.2108_2113delTTGTGG NP_001394920.1:p.Val705_Val706del inframe indel NM_001407992.1:c.2108_2113delTTGTGG NP_001394921.1:p.Val705_Val706del inframe indel NM_001407993.1:c.2108_2113delTTGTGG NP_001394922.1:p.Val705_Val706del inframe indel NM_001408392.1:c.2105_2110delTTGTGG NP_001395321.1:p.Val704_Val705del inframe indel NM_001408396.1:c.2105_2110delTTGTGG NP_001395325.1:p.Val704_Val705del inframe indel NM_001408397.1:c.2105_2110delTTGTGG NP_001395326.1:p.Val704_Val705del inframe indel NM_001408398.1:c.2105_2110delTTGTGG NP_001395327.1:p.Val704_Val705del inframe indel NM_001408399.1:c.2105_2110delTTGTGG NP_001395328.1:p.Val704_Val705del inframe indel NM_001408400.1:c.2105_2110delTTGTGG NP_001395329.1:p.Val704_Val705del inframe indel NM_001408401.1:c.2105_2110delTTGTGG NP_001395330.1:p.Val704_Val705del inframe indel NM_001408402.1:c.2105_2110delTTGTGG NP_001395331.1:p.Val704_Val705del inframe indel NM_001408403.1:c.2105_2110delTTGTGG NP_001395332.1:p.Val704_Val705del inframe indel NM_001408404.1:c.2105_2110delTTGTGG NP_001395333.1:p.Val704_Val705del inframe indel NM_001408406.1:c.2102_2107delTTGTGG NP_001395335.1:p.Val703_Val704del inframe indel NM_001408407.1:c.2102_2107delTTGTGG NP_001395336.1:p.Val703_Val704del inframe indel NM_001408408.1:c.2102_2107delTTGTGG NP_001395337.1:p.Val703_Val704del inframe indel NM_001408409.1:c.2099_2104delTTGTGG NP_001395338.1:p.Val702_Val703del inframe indel NM_001408410.1:c.2036_2041delTTGTGG NP_001395339.1:p.Val681_Val682del inframe indel NM_001408411.1:c.2033_2038delTTGTGG NP_001395340.1:p.Val680_Val681del inframe indel NM_001408412.1:c.2030_2035delTTGTGG NP_001395341.1:p.Val679_Val680del inframe indel NM_001408413.1:c.2030_2035delTTGTGG NP_001395342.1:p.Val679_Val680del inframe indel NM_001408414.1:c.2030_2035delTTGTGG NP_001395343.1:p.Val679_Val680del inframe indel NM_001408415.1:c.2030_2035delTTGTGG NP_001395344.1:p.Val679_Val680del inframe indel NM_001408416.1:c.2030_2035delTTGTGG NP_001395345.1:p.Val679_Val680del inframe indel NM_001408418.1:c.1994_1999delTTGTGG NP_001395347.1:p.Val667_Val668del inframe indel NM_001408419.1:c.1994_1999delTTGTGG NP_001395348.1:p.Val667_Val668del inframe indel NM_001408420.1:c.1994_1999delTTGTGG NP_001395349.1:p.Val667_Val668del inframe indel NM_001408421.1:c.1991_1996delTTGTGG NP_001395350.1:p.Val666_Val667del inframe indel NM_001408422.1:c.1991_1996delTTGTGG NP_001395351.1:p.Val666_Val667del inframe indel NM_001408423.1:c.1991_1996delTTGTGG NP_001395352.1:p.Val666_Val667del inframe indel NM_001408424.1:c.1991_1996delTTGTGG NP_001395353.1:p.Val666_Val667del inframe indel NM_001408425.1:c.1988_1993delTTGTGG NP_001395354.1:p.Val665_Val666del inframe indel NM_001408426.1:c.1988_1993delTTGTGG NP_001395355.1:p.Val665_Val666del inframe indel NM_001408427.1:c.1988_1993delTTGTGG NP_001395356.1:p.Val665_Val666del inframe indel NM_001408428.1:c.1988_1993delTTGTGG NP_001395357.1:p.Val665_Val666del inframe indel NM_001408429.1:c.1988_1993delTTGTGG NP_001395358.1:p.Val665_Val666del inframe indel NM_001408430.1:c.1988_1993delTTGTGG NP_001395359.1:p.Val665_Val666del inframe indel NM_001408431.1:c.1988_1993delTTGTGG NP_001395360.1:p.Val665_Val666del inframe indel NM_001408432.1:c.1985_1990delTTGTGG NP_001395361.1:p.Val664_Val665del inframe indel NM_001408433.1:c.1985_1990delTTGTGG NP_001395362.1:p.Val664_Val665del inframe indel NM_001408434.1:c.1985_1990delTTGTGG NP_001395363.1:p.Val664_Val665del inframe indel NM_001408435.1:c.1985_1990delTTGTGG NP_001395364.1:p.Val664_Val665del inframe indel NM_001408436.1:c.1985_1990delTTGTGG NP_001395365.1:p.Val664_Val665del inframe indel NM_001408437.1:c.1985_1990delTTGTGG NP_001395366.1:p.Val664_Val665del inframe indel NM_001408438.1:c.1985_1990delTTGTGG NP_001395367.1:p.Val664_Val665del inframe indel NM_001408439.1:c.1985_1990delTTGTGG NP_001395368.1:p.Val664_Val665del inframe indel NM_001408440.1:c.1985_1990delTTGTGG NP_001395369.1:p.Val664_Val665del inframe indel NM_001408441.1:c.1985_1990delTTGTGG NP_001395370.1:p.Val664_Val665del inframe indel NM_001408442.1:c.1985_1990delTTGTGG NP_001395371.1:p.Val664_Val665del inframe indel NM_001408443.1:c.1985_1990delTTGTGG NP_001395372.1:p.Val664_Val665del inframe indel NM_001408444.1:c.1985_1990delTTGTGG NP_001395373.1:p.Val664_Val665del inframe indel NM_001408445.1:c.1982_1987delTTGTGG NP_001395374.1:p.Val663_Val664del inframe indel NM_001408446.1:c.1982_1987delTTGTGG NP_001395375.1:p.Val663_Val664del inframe indel NM_001408447.1:c.1982_1987delTTGTGG NP_001395376.1:p.Val663_Val664del inframe indel NM_001408448.1:c.1982_1987delTTGTGG NP_001395377.1:p.Val663_Val664del inframe indel NM_001408450.1:c.1982_1987delTTGTGG NP_001395379.1:p.Val663_Val664del inframe indel NM_001408451.1:c.1976_1981delTTGTGG NP_001395380.1:p.Val661_Val662del inframe indel NM_001408452.1:c.1970_1975delTTGTGG NP_001395381.1:p.Val659_Val660del inframe indel NM_001408453.1:c.1970_1975delTTGTGG NP_001395382.1:p.Val659_Val660del inframe indel NM_001408454.1:c.1970_1975delTTGTGG NP_001395383.1:p.Val659_Val660del inframe indel NM_001408455.1:c.1970_1975delTTGTGG NP_001395384.1:p.Val659_Val660del inframe indel NM_001408456.1:c.1970_1975delTTGTGG NP_001395385.1:p.Val659_Val660del inframe indel NM_001408457.1:c.1970_1975delTTGTGG NP_001395386.1:p.Val659_Val660del inframe indel NM_001408458.1:c.1967_1972delTTGTGG NP_001395387.1:p.Val658_Val659del inframe indel NM_001408459.1:c.1967_1972delTTGTGG NP_001395388.1:p.Val658_Val659del inframe indel NM_001408460.1:c.1967_1972delTTGTGG NP_001395389.1:p.Val658_Val659del inframe indel NM_001408461.1:c.1967_1972delTTGTGG NP_001395390.1:p.Val658_Val659del inframe indel NM_001408462.1:c.1967_1972delTTGTGG NP_001395391.1:p.Val658_Val659del inframe indel NM_001408463.1:c.1967_1972delTTGTGG NP_001395392.1:p.Val658_Val659del inframe indel NM_001408464.1:c.1967_1972delTTGTGG NP_001395393.1:p.Val658_Val659del inframe indel NM_001408465.1:c.1967_1972delTTGTGG NP_001395394.1:p.Val658_Val659del inframe indel NM_001408466.1:c.1967_1972delTTGTGG NP_001395395.1:p.Val658_Val659del inframe indel NM_001408467.1:c.1967_1972delTTGTGG NP_001395396.1:p.Val658_Val659del inframe indel NM_001408468.1:c.1964_1969delTTGTGG NP_001395397.1:p.Val657_Val658del inframe indel NM_001408469.1:c.1964_1969delTTGTGG NP_001395398.1:p.Val657_Val658del inframe indel NM_001408470.1:c.1964_1969delTTGTGG NP_001395399.1:p.Val657_Val658del inframe indel NM_001408472.1:c.2034_2039delTTGTGG NP_001395401.1:p.Gly680_Cys681del inframe indel NM_001408473.1:c.2031_2036delTTGTGG NP_001395402.1:p.Gly679_Cys680del inframe indel NM_001408474.1:c.1910_1915delTTGTGG NP_001395403.1:p.Val639_Val640del inframe indel NM_001408475.1:c.1907_1912delTTGTGG NP_001395404.1:p.Val638_Val639del inframe indel NM_001408476.1:c.1907_1912delTTGTGG NP_001395405.1:p.Val638_Val639del inframe indel NM_001408478.1:c.1901_1906delTTGTGG NP_001395407.1:p.Val636_Val637del inframe indel NM_001408479.1:c.1901_1906delTTGTGG NP_001395408.1:p.Val636_Val637del inframe indel NM_001408480.1:c.1901_1906delTTGTGG NP_001395409.1:p.Val636_Val637del inframe indel NM_001408481.1:c.1898_1903delTTGTGG NP_001395410.1:p.Val635_Val636del inframe indel NM_001408482.1:c.1898_1903delTTGTGG NP_001395411.1:p.Val635_Val636del inframe indel NM_001408483.1:c.1898_1903delTTGTGG NP_001395412.1:p.Val635_Val636del inframe indel NM_001408484.1:c.1898_1903delTTGTGG NP_001395413.1:p.Val635_Val636del inframe indel NM_001408485.1:c.1898_1903delTTGTGG NP_001395414.1:p.Val635_Val636del inframe indel NM_001408489.1:c.1898_1903delTTGTGG NP_001395418.1:p.Val635_Val636del inframe indel NM_001408490.1:c.1898_1903delTTGTGG NP_001395419.1:p.Val635_Val636del inframe indel NM_001408491.1:c.1898_1903delTTGTGG NP_001395420.1:p.Val635_Val636del inframe indel NM_001408492.1:c.1895_1900delTTGTGG NP_001395421.1:p.Val634_Val635del inframe indel NM_001408493.1:c.1895_1900delTTGTGG NP_001395422.1:p.Val634_Val635del inframe indel NM_001408494.1:c.1871_1876delTTGTGG NP_001395423.1:p.Val626_Val627del inframe indel NM_001408495.1:c.1865_1870delTTGTGG NP_001395424.1:p.Val624_Val625del inframe indel NM_001408496.1:c.1847_1852delTTGTGG NP_001395425.1:p.Val618_Val619del inframe indel NM_001408497.1:c.1847_1852delTTGTGG NP_001395426.1:p.Val618_Val619del inframe indel NM_001408498.1:c.1847_1852delTTGTGG NP_001395427.1:p.Val618_Val619del inframe indel NM_001408499.1:c.1847_1852delTTGTGG NP_001395428.1:p.Val618_Val619del inframe indel NM_001408500.1:c.1847_1852delTTGTGG NP_001395429.1:p.Val618_Val619del inframe indel NM_001408501.1:c.1847_1852delTTGTGG NP_001395430.1:p.Val618_Val619del inframe indel NM_001408502.1:c.1844_1849delTTGTGG NP_001395431.1:p.Val617_Val618del inframe indel NM_001408503.1:c.1844_1849delTTGTGG NP_001395432.1:p.Val617_Val618del inframe indel NM_001408504.1:c.1844_1849delTTGTGG NP_001395433.1:p.Val617_Val618del inframe indel NM_001408505.1:c.1841_1846delTTGTGG NP_001395434.1:p.Val616_Val617del inframe indel NM_001408506.1:c.1784_1789delTTGTGG NP_001395435.1:p.Val597_Val598del inframe indel NM_001408507.1:c.1781_1786delTTGTGG NP_001395436.1:p.Val596_Val597del inframe indel NM_001408508.1:c.1772_1777delTTGTGG NP_001395437.1:p.Val593_Val594del inframe indel NM_001408509.1:c.1769_1774delTTGTGG NP_001395438.1:p.Val592_Val593del inframe indel NM_001408510.1:c.1730_1735delTTGTGG NP_001395439.1:p.Val579_Val580del inframe indel NM_001408511.1:c.1727_1732delTTGTGG NP_001395440.1:p.Val578_Val579del inframe indel NM_001408512.1:c.1607_1612delTTGTGG NP_001395441.1:p.Val538_Val539del inframe indel NM_001408513.1:c.1580_1585delTTGTGG NP_001395442.1:p.Val529_Val530del inframe indel NM_001408514.1:c.1184_1189delTTGTGG NP_001395443.1:p.Val397_Val398del inframe indel NM_007294.3:c.5425_5430delGTTGTG inframe indel NM_007297.4:c.5284_5289del NP_009228.2:p.Val1762_Val1763del inframe deletion NM_007298.4:c.2108_2113delTTGTGG NP_009229.2:p.Val705_Val706del inframe indel NM_007299.4:c.2039_2044del NP_009230.2:p.Gly680_Cys681del inframe deletion NM_007300.4:c.5488_5493del NP_009231.2:p.Val1830_Val1831del inframe deletion NM_007304.2:c.2108_2113delTTGTGG NP_009235.2:p.Val705_Val706del inframe indel NR_027676.2:n.5602_5607del non-coding transcript variant NC_000017.11:g.43047685_43047690del NC_000017.10:g.41199702_41199707del NG_005905.2:g.170299_170304del LRG_292:g.170299_170304del LRG_292t1:c.5420_5425del LRG_292p1:p.Val1809_Val1810del U14680.1:n.5544_5549delGTTGTG - Protein change
- Other names
- VV1809del
- 5544del6
- Canonical SPDI
- NC_000017.11:43047679:CACAACCACAA:CACAA
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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 |
13019 | 14822 |
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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Uncertain significance (2) |
no assertion criteria provided
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Mar 2, 2012 | RCV000112652.3 | |
Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
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Jul 2, 2018 | RCV000709464.10 | |
Uncertain significance (1) |
criteria provided, single submitter
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Feb 14, 2019 | RCV002345351.2 |
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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Uncertain significance
(Feb 27, 2018)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV001570926.4
First in ClinVar: Apr 13, 2021 Last updated: Feb 14, 2024 |
Comment:
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant … (more)
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant, c.5425_5430delGTTGTG, results in the deletion of 2 amino acids of the BRCA1 protein (p.Val1809_Val1810del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Breast Cancer Information Core database (PMID: 10923033). ClinVar contains an entry for this variant (Variation ID: 55574). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. (less)
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Uncertain significance
(Feb 14, 2019)
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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
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Ambry Genetics
Accession: SCV002647937.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.5425_5430delGTTGTG variant (also known as p.V1809_V1810del) is located in coding exon 21 of the BRCA1 gene. This variant results from an in-frame deletion of … (more)
The c.5425_5430delGTTGTG variant (also known as p.V1809_V1810del) is located in coding exon 21 of the BRCA1 gene. This variant results from an in-frame deletion of 6 nucleotides at positions 5425 to 5430. This results in the deletion of 2 amino acids between codons 1809 to 1810. This variant was identified in multiple breast cancer cohorts (Fernandes GC et al. Oncotarget, 2016 Dec;7:80465-80481; Sobol H et al. Cancer Res., 1996 Jul;56:3216-9; Eisinger F et al. Cancer Res., 1998 Apr;58:1588-92). These nucleotide positions are well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
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Uncertain significance
(Jul 02, 2018)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast and ovarian cancer syndrome
Affected status: unknown
Allele origin:
unknown
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Mendelics
Accession: SCV000839209.2
First in ClinVar: Oct 10, 2018 Last updated: Dec 11, 2022 |
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Uncertain significance
(Apr 06, 1999)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145510.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 3
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Uncertain significance
(Mar 02, 2012)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
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Sharing Clinical Reports Project (SCRP)
Accession: SCV000297620.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry. | Fernandes GC | Oncotarget | 2016 | PMID: 27741520 |
The breast cancer information core: database design, structure, and scope. | Szabo C | Human mutation | 2000 | PMID: 10923033 |
Mutations at BRCA1: the medullary breast carcinoma revisited. | Eisinger F | Cancer research | 1998 | PMID: 9563465 |
Truncation at conserved terminal regions of BRCA1 protein is associated with highly proliferating hereditary breast cancers. | Sobol H | Cancer research | 1996 | PMID: 8764110 |
Text-mined citations for rs80358348 ...
HelpRecord last updated Jul 15, 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.