ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5500_5526delinsCACTGGTAGAGT (p.Thr1834_Val1842delinsHisTrpTer)
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.5500_5526delinsCACTGGTAGAGT (p.Thr1834_Val1842delinsHisTrpTer)
Variation ID: 1450624 Accession: VCV001450624.5
- Type and length
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Indel, 27 bp
- Location
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Cytogenetic: 17q21.31 17: 43045744-43045770 (GRCh38) [ NCBI UCSC ] 17: 41197761-41197787 (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 28, 2022 Feb 20, 2024 Aug 20, 2021 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5500_5526delinsCACTGGTAGAGT MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Thr1834_Val1842delinsHisTrpTer nonsense NM_001407571.1:c.5287_5313del27insCACTGGTAGAGT NP_001394500.1:p.Thr1763_Tyr1792delinsHisTrp inframe indel NM_001407581.1:c.5566_5592del27insCACTGGTAGAGT NP_001394510.1:p.Thr1856_Tyr1885delinsHisTrp inframe indel NM_001407582.1:c.5566_5592del27insCACTGGTAGAGT NP_001394511.1:p.Thr1856_Tyr1885delinsHisTrp inframe indel NM_001407583.1:c.5563_5589del27insCACTGGTAGAGT NP_001394512.1:p.Thr1855_Tyr1884delinsHisTrp inframe indel NM_001407585.1:c.5563_5589del27insCACTGGTAGAGT NP_001394514.1:p.Thr1855_Tyr1884delinsHisTrp inframe indel NM_001407587.1:c.5563_5589del27insCACTGGTAGAGT NP_001394516.1:p.Thr1855_Tyr1884delinsHisTrp inframe indel NM_001407590.1:c.5560_5586del27insCACTGGTAGAGT NP_001394519.1:p.Thr1854_Tyr1883delinsHisTrp inframe indel NM_001407591.1:c.5560_5586del27insCACTGGTAGAGT NP_001394520.1:p.Thr1854_Tyr1883delinsHisTrp inframe indel NM_001407593.1:c.5500_5526del27insCACTGGTAGAGT NP_001394522.1:p.Thr1834_Tyr1863delinsHisTrp inframe indel NM_001407594.1:c.5500_5526del27insCACTGGTAGAGT NP_001394523.1:p.Thr1834_Tyr1863delinsHisTrp inframe indel NM_001407596.1:c.5500_5526del27insCACTGGTAGAGT NP_001394525.1:p.Thr1834_Tyr1863delinsHisTrp inframe indel NM_001407597.1:c.5500_5526del27insCACTGGTAGAGT NP_001394526.1:p.Thr1834_Tyr1863delinsHisTrp inframe indel NM_001407598.1:c.5500_5526del27insCACTGGTAGAGT NP_001394527.1:p.Thr1834_Tyr1863delinsHisTrp inframe indel NM_001407602.1:c.5500_5526del27insCACTGGTAGAGT NP_001394531.1:p.Thr1834_Tyr1863delinsHisTrp inframe indel NM_001407603.1:c.5500_5526del27insCACTGGTAGAGT NP_001394532.1:p.Thr1834_Tyr1863delinsHisTrp inframe indel NM_001407605.1:c.5500_5526del27insCACTGGTAGAGT NP_001394534.1:p.Thr1834_Tyr1863delinsHisTrp inframe indel NM_001407610.1:c.5497_5523del27insCACTGGTAGAGT NP_001394539.1:p.Thr1833_Tyr1862delinsHisTrp inframe indel NM_001407611.1:c.5497_5523del27insCACTGGTAGAGT NP_001394540.1:p.Thr1833_Tyr1862delinsHisTrp inframe indel NM_001407612.1:c.5497_5523del27insCACTGGTAGAGT NP_001394541.1:p.Thr1833_Tyr1862delinsHisTrp inframe indel NM_001407613.1:c.5497_5523del27insCACTGGTAGAGT NP_001394542.1:p.Thr1833_Tyr1862delinsHisTrp inframe indel NM_001407614.1:c.5497_5523del27insCACTGGTAGAGT NP_001394543.1:p.Thr1833_Tyr1862delinsHisTrp inframe indel NM_001407615.1:c.5497_5523del27insCACTGGTAGAGT NP_001394544.1:p.Thr1833_Tyr1862delinsHisTrp inframe indel NM_001407616.1:c.5497_5523del27insCACTGGTAGAGT NP_001394545.1:p.Thr1833_Tyr1862delinsHisTrp inframe indel NM_001407617.1:c.5497_5523del27insCACTGGTAGAGT NP_001394546.1:p.Thr1833_Tyr1862delinsHisTrp inframe indel NM_001407618.1:c.5497_5523del27insCACTGGTAGAGT NP_001394547.1:p.Thr1833_Tyr1862delinsHisTrp inframe indel NM_001407619.1:c.5497_5523del27insCACTGGTAGAGT NP_001394548.1:p.Thr1833_Tyr1862delinsHisTrp inframe indel NM_001407620.1:c.5497_5523del27insCACTGGTAGAGT NP_001394549.1:p.Thr1833_Tyr1862delinsHisTrp inframe indel NM_001407621.1:c.5497_5523del27insCACTGGTAGAGT NP_001394550.1:p.Thr1833_Tyr1862delinsHisTrp inframe indel NM_001407622.1:c.5497_5523del27insCACTGGTAGAGT NP_001394551.1:p.Thr1833_Tyr1862delinsHisTrp inframe indel NM_001407623.1:c.5497_5523del27insCACTGGTAGAGT NP_001394552.1:p.Thr1833_Tyr1862delinsHisTrp inframe indel NM_001407624.1:c.5497_5523del27insCACTGGTAGAGT NP_001394553.1:p.Thr1833_Tyr1862delinsHisTrp inframe indel NM_001407625.1:c.5497_5523del27insCACTGGTAGAGT NP_001394554.1:p.Thr1833_Tyr1862delinsHisTrp inframe indel NM_001407626.1:c.5497_5523del27insCACTGGTAGAGT NP_001394555.1:p.Thr1833_Tyr1862delinsHisTrp inframe indel NM_001407627.1:c.5494_5520del27insCACTGGTAGAGT NP_001394556.1:p.Thr1832_Tyr1861delinsHisTrp inframe indel NM_001407628.1:c.5494_5520del27insCACTGGTAGAGT NP_001394557.1:p.Thr1832_Tyr1861delinsHisTrp inframe indel NM_001407629.1:c.5494_5520del27insCACTGGTAGAGT NP_001394558.1:p.Thr1832_Tyr1861delinsHisTrp inframe indel NM_001407630.1:c.5494_5520del27insCACTGGTAGAGT NP_001394559.1:p.Thr1832_Tyr1861delinsHisTrp inframe indel NM_001407631.1:c.5494_5520del27insCACTGGTAGAGT NP_001394560.1:p.Thr1832_Tyr1861delinsHisTrp inframe indel NM_001407632.1:c.5494_5520del27insCACTGGTAGAGT NP_001394561.1:p.Thr1832_Tyr1861delinsHisTrp inframe indel NM_001407633.1:c.5494_5520del27insCACTGGTAGAGT NP_001394562.1:p.Thr1832_Tyr1861delinsHisTrp inframe indel NM_001407634.1:c.5494_5520del27insCACTGGTAGAGT NP_001394563.1:p.Thr1832_Tyr1861delinsHisTrp inframe indel NM_001407635.1:c.5494_5520del27insCACTGGTAGAGT NP_001394564.1:p.Thr1832_Tyr1861delinsHisTrp inframe indel NM_001407636.1:c.5494_5520del27insCACTGGTAGAGT NP_001394565.1:p.Thr1832_Tyr1861delinsHisTrp inframe indel NM_001407637.1:c.5494_5520del27insCACTGGTAGAGT NP_001394566.1:p.Thr1832_Tyr1861delinsHisTrp inframe indel NM_001407638.1:c.5494_5520del27insCACTGGTAGAGT NP_001394567.1:p.Thr1832_Tyr1861delinsHisTrp inframe indel NM_001407639.1:c.5494_5520del27insCACTGGTAGAGT NP_001394568.1:p.Thr1832_Tyr1861delinsHisTrp inframe indel NM_001407640.1:c.5494_5520del27insCACTGGTAGAGT NP_001394569.1:p.Thr1832_Tyr1861delinsHisTrp inframe indel NM_001407641.1:c.5494_5520del27insCACTGGTAGAGT NP_001394570.1:p.Thr1832_Tyr1861delinsHisTrp inframe indel NM_001407642.1:c.5494_5520del27insCACTGGTAGAGT NP_001394571.1:p.Thr1832_Tyr1861delinsHisTrp inframe indel NM_001407644.1:c.5491_5517del27insCACTGGTAGAGT NP_001394573.1:p.Thr1831_Tyr1860delinsHisTrp inframe indel NM_001407645.1:c.5491_5517del27insCACTGGTAGAGT NP_001394574.1:p.Thr1831_Tyr1860delinsHisTrp inframe indel NM_001407646.1:c.5488_5514del27insCACTGGTAGAGT NP_001394575.1:p.Thr1830_Tyr1859delinsHisTrp inframe indel NM_001407647.1:c.5485_5511del27insCACTGGTAGAGT NP_001394576.1:p.Thr1829_Tyr1858delinsHisTrp inframe indel NM_001407648.1:c.5443_5469del27insCACTGGTAGAGT NP_001394577.1:p.Thr1815_Tyr1844delinsHisTrp inframe indel NM_001407649.1:c.5440_5466del27insCACTGGTAGAGT NP_001394578.1:p.Thr1814_Tyr1843delinsHisTrp inframe indel NM_001407652.1:c.5422_5448del27insCACTGGTAGAGT NP_001394581.1:p.Thr1808_Tyr1837delinsHisTrp inframe indel NM_001407653.1:c.5422_5448del27insCACTGGTAGAGT NP_001394582.1:p.Thr1808_Tyr1837delinsHisTrp inframe indel NM_001407654.1:c.5422_5448del27insCACTGGTAGAGT NP_001394583.1:p.Thr1808_Tyr1837delinsHisTrp inframe indel NM_001407655.1:c.5422_5448del27insCACTGGTAGAGT NP_001394584.1:p.Thr1808_Tyr1837delinsHisTrp inframe indel NM_001407656.1:c.5419_5445del27insCACTGGTAGAGT NP_001394585.1:p.Thr1807_Tyr1836delinsHisTrp inframe indel NM_001407657.1:c.5419_5445del27insCACTGGTAGAGT NP_001394586.1:p.Thr1807_Tyr1836delinsHisTrp inframe indel NM_001407658.1:c.5419_5445del27insCACTGGTAGAGT NP_001394587.1:p.Thr1807_Tyr1836delinsHisTrp inframe indel NM_001407659.1:c.5416_5442del27insCACTGGTAGAGT NP_001394588.1:p.Thr1806_Tyr1835delinsHisTrp inframe indel NM_001407660.1:c.5416_5442del27insCACTGGTAGAGT NP_001394589.1:p.Thr1806_Tyr1835delinsHisTrp inframe indel NM_001407661.1:c.5416_5442del27insCACTGGTAGAGT NP_001394590.1:p.Thr1806_Tyr1835delinsHisTrp inframe indel NM_001407662.1:c.5416_5442del27insCACTGGTAGAGT NP_001394591.1:p.Thr1806_Tyr1835delinsHisTrp inframe indel NM_001407663.1:c.5416_5442del27insCACTGGTAGAGT NP_001394592.1:p.Thr1806_Tyr1835delinsHisTrp inframe indel NM_001407664.1:c.5377_5403del27insCACTGGTAGAGT NP_001394593.1:p.Thr1793_Tyr1822delinsHisTrp inframe indel NM_001407665.1:c.5377_5403del27insCACTGGTAGAGT NP_001394594.1:p.Thr1793_Tyr1822delinsHisTrp inframe indel NM_001407666.1:c.5377_5403del27insCACTGGTAGAGT NP_001394595.1:p.Thr1793_Tyr1822delinsHisTrp inframe indel NM_001407667.1:c.5377_5403del27insCACTGGTAGAGT NP_001394596.1:p.Thr1793_Tyr1822delinsHisTrp inframe indel NM_001407668.1:c.5377_5403del27insCACTGGTAGAGT NP_001394597.1:p.Thr1793_Tyr1822delinsHisTrp inframe indel NM_001407669.1:c.5377_5403del27insCACTGGTAGAGT NP_001394598.1:p.Thr1793_Tyr1822delinsHisTrp inframe indel NM_001407670.1:c.5374_5400del27insCACTGGTAGAGT NP_001394599.1:p.Thr1792_Tyr1821delinsHisTrp inframe indel NM_001407671.1:c.5374_5400del27insCACTGGTAGAGT NP_001394600.1:p.Thr1792_Tyr1821delinsHisTrp inframe indel NM_001407672.1:c.5374_5400del27insCACTGGTAGAGT NP_001394601.1:p.Thr1792_Tyr1821delinsHisTrp inframe indel NM_001407673.1:c.5374_5400del27insCACTGGTAGAGT NP_001394602.1:p.Thr1792_Tyr1821delinsHisTrp inframe indel NM_001407674.1:c.5374_5400del27insCACTGGTAGAGT NP_001394603.1:p.Thr1792_Tyr1821delinsHisTrp inframe indel NM_001407675.1:c.5374_5400del27insCACTGGTAGAGT NP_001394604.1:p.Thr1792_Tyr1821delinsHisTrp inframe indel NM_001407676.1:c.5374_5400del27insCACTGGTAGAGT NP_001394605.1:p.Thr1792_Tyr1821delinsHisTrp inframe indel NM_001407677.1:c.5374_5400del27insCACTGGTAGAGT NP_001394606.1:p.Thr1792_Tyr1821delinsHisTrp inframe indel NM_001407678.1:c.5374_5400del27insCACTGGTAGAGT NP_001394607.1:p.Thr1792_Tyr1821delinsHisTrp inframe indel NM_001407679.1:c.5374_5400del27insCACTGGTAGAGT NP_001394608.1:p.Thr1792_Tyr1821delinsHisTrp inframe indel NM_001407680.1:c.5374_5400del27insCACTGGTAGAGT NP_001394609.1:p.Thr1792_Tyr1821delinsHisTrp inframe indel NM_001407681.1:c.5371_5397del27insCACTGGTAGAGT NP_001394610.1:p.Thr1791_Tyr1820delinsHisTrp inframe indel NM_001407682.1:c.5371_5397del27insCACTGGTAGAGT NP_001394611.1:p.Thr1791_Tyr1820delinsHisTrp inframe indel NM_001407683.1:c.5371_5397del27insCACTGGTAGAGT NP_001394612.1:p.Thr1791_Tyr1820delinsHisTrp inframe indel NM_001407684.1:c.5371_5397del27insCACTGGTAGAGT NP_001394613.1:p.Thr1791_Tyr1820delinsHisTrp inframe indel NM_001407685.1:c.5371_5397del27insCACTGGTAGAGT NP_001394614.1:p.Thr1791_Tyr1820delinsHisTrp inframe indel NM_001407686.1:c.5371_5397del27insCACTGGTAGAGT NP_001394615.1:p.Thr1791_Tyr1820delinsHisTrp inframe indel NM_001407687.1:c.5371_5397del27insCACTGGTAGAGT NP_001394616.1:p.Thr1791_Tyr1820delinsHisTrp inframe indel NM_001407688.1:c.5371_5397del27insCACTGGTAGAGT NP_001394617.1:p.Thr1791_Tyr1820delinsHisTrp inframe indel NM_001407689.1:c.5371_5397del27insCACTGGTAGAGT NP_001394618.1:p.Thr1791_Tyr1820delinsHisTrp inframe indel NM_001407690.1:c.5368_5394del27insCACTGGTAGAGT NP_001394619.1:p.Thr1790_Tyr1819delinsHisTrp inframe indel NM_001407691.1:c.5368_5394del27insCACTGGTAGAGT NP_001394620.1:p.Thr1790_Tyr1819delinsHisTrp inframe indel NM_001407692.1:c.5359_5385del27insCACTGGTAGAGT NP_001394621.1:p.Thr1787_Tyr1816delinsHisTrp inframe indel NM_001407694.1:c.5359_5385del27insCACTGGTAGAGT NP_001394623.1:p.Thr1787_Tyr1816delinsHisTrp inframe indel NM_001407695.1:c.5359_5385del27insCACTGGTAGAGT NP_001394624.1:p.Thr1787_Tyr1816delinsHisTrp inframe indel NM_001407696.1:c.5359_5385del27insCACTGGTAGAGT NP_001394625.1:p.Thr1787_Tyr1816delinsHisTrp inframe indel NM_001407697.1:c.5359_5385del27insCACTGGTAGAGT NP_001394626.1:p.Thr1787_Tyr1816delinsHisTrp inframe indel NM_001407698.1:c.5359_5385del27insCACTGGTAGAGT NP_001394627.1:p.Thr1787_Tyr1816delinsHisTrp inframe indel NM_001407724.1:c.5359_5385del27insCACTGGTAGAGT NP_001394653.1:p.Thr1787_Tyr1816delinsHisTrp inframe indel NM_001407725.1:c.5359_5385del27insCACTGGTAGAGT NP_001394654.1:p.Thr1787_Tyr1816delinsHisTrp inframe indel NM_001407726.1:c.5359_5385del27insCACTGGTAGAGT NP_001394655.1:p.Thr1787_Tyr1816delinsHisTrp inframe indel NM_001407727.1:c.5359_5385del27insCACTGGTAGAGT NP_001394656.1:p.Thr1787_Tyr1816delinsHisTrp inframe indel NM_001407728.1:c.5359_5385del27insCACTGGTAGAGT NP_001394657.1:p.Thr1787_Tyr1816delinsHisTrp inframe indel NM_001407729.1:c.5359_5385del27insCACTGGTAGAGT NP_001394658.1:p.Thr1787_Tyr1816delinsHisTrp inframe indel NM_001407730.1:c.5359_5385del27insCACTGGTAGAGT NP_001394659.1:p.Thr1787_Tyr1816delinsHisTrp inframe indel NM_001407731.1:c.5359_5385del27insCACTGGTAGAGT NP_001394660.1:p.Thr1787_Tyr1816delinsHisTrp inframe indel NM_001407732.1:c.5356_5382del27insCACTGGTAGAGT NP_001394661.1:p.Thr1786_Tyr1815delinsHisTrp inframe indel NM_001407733.1:c.5356_5382del27insCACTGGTAGAGT NP_001394662.1:p.Thr1786_Tyr1815delinsHisTrp inframe indel NM_001407734.1:c.5356_5382del27insCACTGGTAGAGT NP_001394663.1:p.Thr1786_Tyr1815delinsHisTrp inframe indel NM_001407735.1:c.5356_5382del27insCACTGGTAGAGT NP_001394664.1:p.Thr1786_Tyr1815delinsHisTrp inframe indel NM_001407736.1:c.5356_5382del27insCACTGGTAGAGT NP_001394665.1:p.Thr1786_Tyr1815delinsHisTrp inframe indel NM_001407737.1:c.5356_5382del27insCACTGGTAGAGT NP_001394666.1:p.Thr1786_Tyr1815delinsHisTrp inframe indel NM_001407738.1:c.5356_5382del27insCACTGGTAGAGT NP_001394667.1:p.Thr1786_Tyr1815delinsHisTrp inframe indel NM_001407739.1:c.5356_5382del27insCACTGGTAGAGT NP_001394668.1:p.Thr1786_Tyr1815delinsHisTrp inframe indel NM_001407740.1:c.5356_5382del27insCACTGGTAGAGT NP_001394669.1:p.Thr1786_Tyr1815delinsHisTrp inframe indel NM_001407741.1:c.5356_5382del27insCACTGGTAGAGT NP_001394670.1:p.Thr1786_Tyr1815delinsHisTrp inframe indel NM_001407742.1:c.5356_5382del27insCACTGGTAGAGT NP_001394671.1:p.Thr1786_Tyr1815delinsHisTrp inframe indel NM_001407743.1:c.5356_5382del27insCACTGGTAGAGT NP_001394672.1:p.Thr1786_Tyr1815delinsHisTrp inframe indel NM_001407744.1:c.5356_5382del27insCACTGGTAGAGT NP_001394673.1:p.Thr1786_Tyr1815delinsHisTrp inframe indel NM_001407745.1:c.5356_5382del27insCACTGGTAGAGT NP_001394674.1:p.Thr1786_Tyr1815delinsHisTrp inframe indel NM_001407746.1:c.5356_5382del27insCACTGGTAGAGT NP_001394675.1:p.Thr1786_Tyr1815delinsHisTrp inframe indel NM_001407747.1:c.5356_5382del27insCACTGGTAGAGT NP_001394676.1:p.Thr1786_Tyr1815delinsHisTrp inframe indel NM_001407748.1:c.5356_5382del27insCACTGGTAGAGT NP_001394677.1:p.Thr1786_Tyr1815delinsHisTrp inframe indel NM_001407749.1:c.5356_5382del27insCACTGGTAGAGT NP_001394678.1:p.Thr1786_Tyr1815delinsHisTrp inframe indel NM_001407750.1:c.5356_5382del27insCACTGGTAGAGT NP_001394679.1:p.Thr1786_Tyr1815delinsHisTrp inframe indel NM_001407751.1:c.5356_5382del27insCACTGGTAGAGT NP_001394680.1:p.Thr1786_Tyr1815delinsHisTrp inframe indel NM_001407752.1:c.5356_5382del27insCACTGGTAGAGT NP_001394681.1:p.Thr1786_Tyr1815delinsHisTrp inframe indel NM_001407838.1:c.5353_5379del27insCACTGGTAGAGT NP_001394767.1:p.Thr1785_Tyr1814delinsHisTrp inframe indel NM_001407839.1:c.5353_5379del27insCACTGGTAGAGT NP_001394768.1:p.Thr1785_Tyr1814delinsHisTrp inframe indel NM_001407841.1:c.5353_5379del27insCACTGGTAGAGT NP_001394770.1:p.Thr1785_Tyr1814delinsHisTrp inframe indel NM_001407842.1:c.5353_5379del27insCACTGGTAGAGT NP_001394771.1:p.Thr1785_Tyr1814delinsHisTrp inframe indel NM_001407843.1:c.5353_5379del27insCACTGGTAGAGT NP_001394772.1:p.Thr1785_Tyr1814delinsHisTrp inframe indel NM_001407844.1:c.5353_5379del27insCACTGGTAGAGT NP_001394773.1:p.Thr1785_Tyr1814delinsHisTrp inframe indel NM_001407845.1:c.5353_5379del27insCACTGGTAGAGT NP_001394774.1:p.Thr1785_Tyr1814delinsHisTrp inframe indel NM_001407846.1:c.5353_5379del27insCACTGGTAGAGT NP_001394775.1:p.Thr1785_Tyr1814delinsHisTrp inframe indel NM_001407847.1:c.5353_5379del27insCACTGGTAGAGT NP_001394776.1:p.Thr1785_Tyr1814delinsHisTrp inframe indel NM_001407848.1:c.5353_5379del27insCACTGGTAGAGT NP_001394777.1:p.Thr1785_Tyr1814delinsHisTrp inframe indel NM_001407849.1:c.5353_5379del27insCACTGGTAGAGT NP_001394778.1:p.Thr1785_Tyr1814delinsHisTrp inframe indel NM_001407850.1:c.5353_5379del27insCACTGGTAGAGT NP_001394779.1:p.Thr1785_Tyr1814delinsHisTrp inframe indel NM_001407851.1:c.5353_5379del27insCACTGGTAGAGT NP_001394780.1:p.Thr1785_Tyr1814delinsHisTrp inframe indel NM_001407852.1:c.5353_5379del27insCACTGGTAGAGT NP_001394781.1:p.Thr1785_Tyr1814delinsHisTrp inframe indel NM_001407853.1:c.5353_5379del27insCACTGGTAGAGT NP_001394782.1:p.Thr1785_Tyr1814delinsHisTrp inframe indel NM_001407854.1:c.*14_*40del27insCACTGGTAGAGT NM_001407858.1:c.*14_*40del27insCACTGGTAGAGT NM_001407859.1:c.*14_*40del27insCACTGGTAGAGT NM_001407860.1:c.*14_*40del27insCACTGGTAGAGT NM_001407861.1:c.*14_*40del27insCACTGGTAGAGT NM_001407862.1:c.5299_5325del27insCACTGGTAGAGT NP_001394791.1:p.Thr1767_Tyr1796delinsHisTrp inframe indel NM_001407863.1:c.5296_5322del27insCACTGGTAGAGT NP_001394792.1:p.Thr1766_Tyr1795delinsHisTrp inframe indel NM_001407874.1:c.5293_5319del27insCACTGGTAGAGT NP_001394803.1:p.Thr1765_Tyr1794delinsHisTrp inframe indel NM_001407875.1:c.5293_5319del27insCACTGGTAGAGT NP_001394804.1:p.Thr1765_Tyr1794delinsHisTrp inframe indel NM_001407879.1:c.5290_5316del27insCACTGGTAGAGT NP_001394808.1:p.Thr1764_Tyr1793delinsHisTrp inframe indel NM_001407881.1:c.5290_5316del27insCACTGGTAGAGT NP_001394810.1:p.Thr1764_Tyr1793delinsHisTrp inframe indel NM_001407882.1:c.5290_5316del27insCACTGGTAGAGT NP_001394811.1:p.Thr1764_Tyr1793delinsHisTrp inframe indel NM_001407884.1:c.5290_5316del27insCACTGGTAGAGT NP_001394813.1:p.Thr1764_Tyr1793delinsHisTrp inframe indel NM_001407885.1:c.5290_5316del27insCACTGGTAGAGT NP_001394814.1:p.Thr1764_Tyr1793delinsHisTrp inframe indel NM_001407886.1:c.5290_5316del27insCACTGGTAGAGT NP_001394815.1:p.Thr1764_Tyr1793delinsHisTrp inframe indel NM_001407887.1:c.5290_5316del27insCACTGGTAGAGT NP_001394816.1:p.Thr1764_Tyr1793delinsHisTrp inframe indel NM_001407889.1:c.5290_5316del27insCACTGGTAGAGT NP_001394818.1:p.Thr1764_Tyr1793delinsHisTrp inframe indel NM_001407894.1:c.5287_5313del27insCACTGGTAGAGT NP_001394823.1:p.Thr1763_Tyr1792delinsHisTrp inframe indel NM_001407895.1:c.5287_5313del27insCACTGGTAGAGT NP_001394824.1:p.Thr1763_Tyr1792delinsHisTrp inframe indel NM_001407896.1:c.5287_5313del27insCACTGGTAGAGT NP_001394825.1:p.Thr1763_Tyr1792delinsHisTrp inframe indel NM_001407897.1:c.5287_5313del27insCACTGGTAGAGT NP_001394826.1:p.Thr1763_Tyr1792delinsHisTrp inframe indel NM_001407898.1:c.5287_5313del27insCACTGGTAGAGT NP_001394827.1:p.Thr1763_Tyr1792delinsHisTrp inframe indel NM_001407899.1:c.5287_5313del27insCACTGGTAGAGT NP_001394828.1:p.Thr1763_Tyr1792delinsHisTrp inframe indel NM_001407900.1:c.5287_5313del27insCACTGGTAGAGT NP_001394829.1:p.Thr1763_Tyr1792delinsHisTrp inframe indel NM_001407902.1:c.5287_5313del27insCACTGGTAGAGT NP_001394831.1:p.Thr1763_Tyr1792delinsHisTrp inframe indel NM_001407904.1:c.5287_5313del27insCACTGGTAGAGT NP_001394833.1:p.Thr1763_Tyr1792delinsHisTrp inframe indel NM_001407906.1:c.5287_5313del27insCACTGGTAGAGT NP_001394835.1:p.Thr1763_Tyr1792delinsHisTrp inframe indel NM_001407907.1:c.5287_5313del27insCACTGGTAGAGT NP_001394836.1:p.Thr1763_Tyr1792delinsHisTrp inframe indel NM_001407908.1:c.5287_5313del27insCACTGGTAGAGT NP_001394837.1:p.Thr1763_Tyr1792delinsHisTrp inframe indel NM_001407909.1:c.5287_5313del27insCACTGGTAGAGT NP_001394838.1:p.Thr1763_Tyr1792delinsHisTrp inframe indel NM_001407910.1:c.5287_5313del27insCACTGGTAGAGT NP_001394839.1:p.Thr1763_Tyr1792delinsHisTrp inframe indel NM_001407915.1:c.5284_5310del27insCACTGGTAGAGT NP_001394844.1:p.Thr1762_Tyr1791delinsHisTrp inframe indel NM_001407916.1:c.5284_5310del27insCACTGGTAGAGT NP_001394845.1:p.Thr1762_Tyr1791delinsHisTrp inframe indel NM_001407917.1:c.5284_5310del27insCACTGGTAGAGT NP_001394846.1:p.Thr1762_Tyr1791delinsHisTrp inframe indel NM_001407918.1:c.5284_5310del27insCACTGGTAGAGT NP_001394847.1:p.Thr1762_Tyr1791delinsHisTrp inframe indel NM_001407919.1:c.5248_5274del27insCACTGGTAGAGT NP_001394848.1:p.Thr1750_Tyr1779delinsHisTrp inframe indel NM_001407920.1:c.5236_5262del27insCACTGGTAGAGT NP_001394849.1:p.Thr1746_Tyr1775delinsHisTrp inframe indel NM_001407921.1:c.5236_5262del27insCACTGGTAGAGT NP_001394850.1:p.Thr1746_Tyr1775delinsHisTrp inframe indel NM_001407922.1:c.5236_5262del27insCACTGGTAGAGT NP_001394851.1:p.Thr1746_Tyr1775delinsHisTrp inframe indel NM_001407923.1:c.5236_5262del27insCACTGGTAGAGT NP_001394852.1:p.Thr1746_Tyr1775delinsHisTrp inframe indel NM_001407924.1:c.5236_5262del27insCACTGGTAGAGT NP_001394853.1:p.Thr1746_Tyr1775delinsHisTrp inframe indel NM_001407925.1:c.5236_5262del27insCACTGGTAGAGT NP_001394854.1:p.Thr1746_Tyr1775delinsHisTrp inframe indel NM_001407926.1:c.5236_5262del27insCACTGGTAGAGT NP_001394855.1:p.Thr1746_Tyr1775delinsHisTrp inframe indel NM_001407927.1:c.5233_5259del27insCACTGGTAGAGT NP_001394856.1:p.Thr1745_Tyr1774delinsHisTrp inframe indel NM_001407928.1:c.5233_5259del27insCACTGGTAGAGT NP_001394857.1:p.Thr1745_Tyr1774delinsHisTrp inframe indel NM_001407929.1:c.5233_5259del27insCACTGGTAGAGT NP_001394858.1:p.Thr1745_Tyr1774delinsHisTrp inframe indel NM_001407930.1:c.5233_5259del27insCACTGGTAGAGT NP_001394859.1:p.Thr1745_Tyr1774delinsHisTrp inframe indel NM_001407931.1:c.5233_5259del27insCACTGGTAGAGT NP_001394860.1:p.Thr1745_Tyr1774delinsHisTrp inframe indel NM_001407932.1:c.5233_5259del27insCACTGGTAGAGT NP_001394861.1:p.Thr1745_Tyr1774delinsHisTrp inframe indel NM_001407933.1:c.5233_5259del27insCACTGGTAGAGT NP_001394862.1:p.Thr1745_Tyr1774delinsHisTrp inframe indel NM_001407934.1:c.5230_5256del27insCACTGGTAGAGT NP_001394863.1:p.Thr1744_Tyr1773delinsHisTrp inframe indel NM_001407935.1:c.5230_5256del27insCACTGGTAGAGT NP_001394864.1:p.Thr1744_Tyr1773delinsHisTrp inframe indel NM_001407936.1:c.5230_5256del27insCACTGGTAGAGT NP_001394865.1:p.Thr1744_Tyr1773delinsHisTrp inframe indel NM_001407937.1:c.*14_*40del27insCACTGGTAGAGT NM_001407938.1:c.*14_*40del27insCACTGGTAGAGT NM_001407939.1:c.*14_*40del27insCACTGGTAGAGT NM_001407940.1:c.*14_*40del27insCACTGGTAGAGT NM_001407941.1:c.*14_*40del27insCACTGGTAGAGT NM_001407942.1:c.*14_*40del27insCACTGGTAGAGT NM_001407943.1:c.*14_*40del27insCACTGGTAGAGT NM_001407944.1:c.*14_*40del27insCACTGGTAGAGT NM_001407945.1:c.*14_*40del27insCACTGGTAGAGT NM_001407946.1:c.5167_5193del27insCACTGGTAGAGT NP_001394875.1:p.Thr1723_Tyr1752delinsHisTrp inframe indel NM_001407947.1:c.5167_5193del27insCACTGGTAGAGT NP_001394876.1:p.Thr1723_Tyr1752delinsHisTrp inframe indel NM_001407948.1:c.5167_5193del27insCACTGGTAGAGT NP_001394877.1:p.Thr1723_Tyr1752delinsHisTrp inframe indel NM_001407949.1:c.5167_5193del27insCACTGGTAGAGT NP_001394878.1:p.Thr1723_Tyr1752delinsHisTrp inframe indel NM_001407950.1:c.5164_5190del27insCACTGGTAGAGT NP_001394879.1:p.Thr1722_Tyr1751delinsHisTrp inframe indel NM_001407951.1:c.5164_5190del27insCACTGGTAGAGT NP_001394880.1:p.Thr1722_Tyr1751delinsHisTrp inframe indel NM_001407952.1:c.5164_5190del27insCACTGGTAGAGT NP_001394881.1:p.Thr1722_Tyr1751delinsHisTrp inframe indel NM_001407953.1:c.5164_5190del27insCACTGGTAGAGT NP_001394882.1:p.Thr1722_Tyr1751delinsHisTrp inframe indel NM_001407954.1:c.5164_5190del27insCACTGGTAGAGT NP_001394883.1:p.Thr1722_Tyr1751delinsHisTrp inframe indel NM_001407955.1:c.5164_5190del27insCACTGGTAGAGT NP_001394884.1:p.Thr1722_Tyr1751delinsHisTrp inframe indel NM_001407956.1:c.5161_5187del27insCACTGGTAGAGT NP_001394885.1:p.Thr1721_Tyr1750delinsHisTrp inframe indel NM_001407957.1:c.5161_5187del27insCACTGGTAGAGT NP_001394886.1:p.Thr1721_Tyr1750delinsHisTrp inframe indel NM_001407958.1:c.5161_5187del27insCACTGGTAGAGT NP_001394887.1:p.Thr1721_Tyr1750delinsHisTrp inframe indel NM_001407959.1:c.5119_5145del27insCACTGGTAGAGT NP_001394888.1:p.Thr1707_Tyr1736delinsHisTrp inframe indel NM_001407960.1:c.5116_5142del27insCACTGGTAGAGT NP_001394889.1:p.Thr1706_Tyr1735delinsHisTrp inframe indel NM_001407962.1:c.5116_5142del27insCACTGGTAGAGT NP_001394891.1:p.Thr1706_Tyr1735delinsHisTrp inframe indel NM_001407963.1:c.5113_5139del27insCACTGGTAGAGT NP_001394892.1:p.Thr1705_Tyr1734delinsHisTrp inframe indel NM_001407964.1:c.5038_5064del27insCACTGGTAGAGT NP_001394893.1:p.Thr1680_Tyr1709delinsHisTrp inframe indel NM_001407965.1:c.4993_5019del27insCACTGGTAGAGT NP_001394894.1:p.Thr1665_Tyr1694delinsHisTrp inframe indel NM_001407966.1:c.4612_4638del27insCACTGGTAGAGT NP_001394895.1:p.Thr1538_Tyr1567delinsHisTrp inframe indel NM_001407967.1:c.4609_4635del27insCACTGGTAGAGT NP_001394896.1:p.Thr1537_Tyr1566delinsHisTrp inframe indel NM_001407968.1:c.2896_2922del27insCACTGGTAGAGT NP_001394897.1:p.Thr966_Tyr995delinsHisTrp inframe indel NM_001407969.1:c.2893_2919del27insCACTGGTAGAGT NP_001394898.1:p.Thr965_Tyr994delinsHisTrp inframe indel NM_001407970.1:c.2257_2283del27insCACTGGTAGAGT NP_001394899.1:p.Thr753_Tyr782delinsHisTrp inframe indel NM_001407971.1:c.2257_2283del27insCACTGGTAGAGT NP_001394900.1:p.Thr753_Tyr782delinsHisTrp inframe indel NM_001407972.1:c.2254_2280del27insCACTGGTAGAGT NP_001394901.1:p.Thr752_Tyr781delinsHisTrp inframe indel NM_001407973.1:c.2191_2217del27insCACTGGTAGAGT NP_001394902.1:p.Thr731_Tyr760delinsHisTrp inframe indel NM_001407974.1:c.2191_2217del27insCACTGGTAGAGT NP_001394903.1:p.Thr731_Tyr760delinsHisTrp inframe indel NM_001407975.1:c.2191_2217del27insCACTGGTAGAGT NP_001394904.1:p.Thr731_Tyr760delinsHisTrp inframe indel NM_001407976.1:c.2191_2217del27insCACTGGTAGAGT NP_001394905.1:p.Thr731_Tyr760delinsHisTrp inframe indel NM_001407977.1:c.2191_2217del27insCACTGGTAGAGT NP_001394906.1:p.Thr731_Tyr760delinsHisTrp inframe indel NM_001407978.1:c.2191_2217del27insCACTGGTAGAGT NP_001394907.1:p.Thr731_Tyr760delinsHisTrp inframe indel NM_001407979.1:c.2188_2214del27insCACTGGTAGAGT NP_001394908.1:p.Thr730_Tyr759delinsHisTrp inframe indel NM_001407980.1:c.2188_2214del27insCACTGGTAGAGT NP_001394909.1:p.Thr730_Tyr759delinsHisTrp inframe indel NM_001407981.1:c.2188_2214del27insCACTGGTAGAGT NP_001394910.1:p.Thr730_Tyr759delinsHisTrp inframe indel NM_001407982.1:c.2188_2214del27insCACTGGTAGAGT NP_001394911.1:p.Thr730_Tyr759delinsHisTrp inframe indel NM_001407983.1:c.2188_2214del27insCACTGGTAGAGT NP_001394912.1:p.Thr730_Tyr759delinsHisTrp inframe indel NM_001407984.1:c.2188_2214del27insCACTGGTAGAGT NP_001394913.1:p.Thr730_Tyr759delinsHisTrp inframe indel NM_001407985.1:c.2188_2214del27insCACTGGTAGAGT NP_001394914.1:p.Thr730_Tyr759delinsHisTrp inframe indel NM_001407986.1:c.2188_2214del27insCACTGGTAGAGT NP_001394915.1:p.Thr730_Tyr759delinsHisTrp inframe indel NM_001407990.1:c.2188_2214del27insCACTGGTAGAGT NP_001394919.1:p.Thr730_Tyr759delinsHisTrp inframe indel NM_001407991.1:c.2188_2214del27insCACTGGTAGAGT NP_001394920.1:p.Thr730_Tyr759delinsHisTrp inframe indel NM_001407992.1:c.2188_2214del27insCACTGGTAGAGT NP_001394921.1:p.Thr730_Tyr759delinsHisTrp inframe indel NM_001407993.1:c.2188_2214del27insCACTGGTAGAGT NP_001394922.1:p.Thr730_Tyr759delinsHisTrp inframe indel NM_001408392.1:c.2185_2211del27insCACTGGTAGAGT NP_001395321.1:p.Thr729_Tyr758delinsHisTrp inframe indel NM_001408396.1:c.2185_2211del27insCACTGGTAGAGT NP_001395325.1:p.Thr729_Tyr758delinsHisTrp inframe indel NM_001408397.1:c.2185_2211del27insCACTGGTAGAGT NP_001395326.1:p.Thr729_Tyr758delinsHisTrp inframe indel NM_001408398.1:c.2185_2211del27insCACTGGTAGAGT NP_001395327.1:p.Thr729_Tyr758delinsHisTrp inframe indel NM_001408399.1:c.2185_2211del27insCACTGGTAGAGT NP_001395328.1:p.Thr729_Tyr758delinsHisTrp inframe indel NM_001408400.1:c.2185_2211del27insCACTGGTAGAGT NP_001395329.1:p.Thr729_Tyr758delinsHisTrp inframe indel NM_001408401.1:c.2185_2211del27insCACTGGTAGAGT NP_001395330.1:p.Thr729_Tyr758delinsHisTrp inframe indel NM_001408402.1:c.2185_2211del27insCACTGGTAGAGT NP_001395331.1:p.Thr729_Tyr758delinsHisTrp inframe indel NM_001408403.1:c.2185_2211del27insCACTGGTAGAGT NP_001395332.1:p.Thr729_Tyr758delinsHisTrp inframe indel NM_001408404.1:c.2185_2211del27insCACTGGTAGAGT NP_001395333.1:p.Thr729_Tyr758delinsHisTrp inframe indel NM_001408406.1:c.2182_2208del27insCACTGGTAGAGT NP_001395335.1:p.Thr728_Tyr757delinsHisTrp inframe indel NM_001408407.1:c.2182_2208del27insCACTGGTAGAGT NP_001395336.1:p.Thr728_Tyr757delinsHisTrp inframe indel NM_001408408.1:c.2182_2208del27insCACTGGTAGAGT NP_001395337.1:p.Thr728_Tyr757delinsHisTrp inframe indel NM_001408409.1:c.2179_2205del27insCACTGGTAGAGT NP_001395338.1:p.Thr727_Tyr756delinsHisTrp inframe indel NM_001408410.1:c.2116_2142del27insCACTGGTAGAGT NP_001395339.1:p.Thr706_Tyr735delinsHisTrp inframe indel NM_001408411.1:c.2113_2139del27insCACTGGTAGAGT NP_001395340.1:p.Thr705_Tyr734delinsHisTrp inframe indel NM_001408412.1:c.2110_2136del27insCACTGGTAGAGT NP_001395341.1:p.Thr704_Tyr733delinsHisTrp inframe indel NM_001408413.1:c.2110_2136del27insCACTGGTAGAGT NP_001395342.1:p.Thr704_Tyr733delinsHisTrp inframe indel NM_001408414.1:c.2110_2136del27insCACTGGTAGAGT NP_001395343.1:p.Thr704_Tyr733delinsHisTrp inframe indel NM_001408415.1:c.2110_2136del27insCACTGGTAGAGT NP_001395344.1:p.Thr704_Tyr733delinsHisTrp inframe indel NM_001408416.1:c.2110_2136del27insCACTGGTAGAGT NP_001395345.1:p.Thr704_Tyr733delinsHisTrp inframe indel NM_001408418.1:c.2074_2100del27insCACTGGTAGAGT NP_001395347.1:p.Thr692_Tyr721delinsHisTrp inframe indel NM_001408419.1:c.2074_2100del27insCACTGGTAGAGT NP_001395348.1:p.Thr692_Tyr721delinsHisTrp inframe indel NM_001408420.1:c.2074_2100del27insCACTGGTAGAGT NP_001395349.1:p.Thr692_Tyr721delinsHisTrp inframe indel NM_001408421.1:c.2071_2097del27insCACTGGTAGAGT NP_001395350.1:p.Thr691_Tyr720delinsHisTrp inframe indel NM_001408422.1:c.2071_2097del27insCACTGGTAGAGT NP_001395351.1:p.Thr691_Tyr720delinsHisTrp inframe indel NM_001408423.1:c.2071_2097del27insCACTGGTAGAGT NP_001395352.1:p.Thr691_Tyr720delinsHisTrp inframe indel NM_001408424.1:c.2071_2097del27insCACTGGTAGAGT NP_001395353.1:p.Thr691_Tyr720delinsHisTrp inframe indel NM_001408425.1:c.2068_2094del27insCACTGGTAGAGT NP_001395354.1:p.Thr690_Tyr719delinsHisTrp inframe indel NM_001408426.1:c.2068_2094del27insCACTGGTAGAGT NP_001395355.1:p.Thr690_Tyr719delinsHisTrp inframe indel NM_001408427.1:c.2068_2094del27insCACTGGTAGAGT NP_001395356.1:p.Thr690_Tyr719delinsHisTrp inframe indel NM_001408428.1:c.2068_2094del27insCACTGGTAGAGT NP_001395357.1:p.Thr690_Tyr719delinsHisTrp inframe indel NM_001408429.1:c.2068_2094del27insCACTGGTAGAGT NP_001395358.1:p.Thr690_Tyr719delinsHisTrp inframe indel NM_001408430.1:c.2068_2094del27insCACTGGTAGAGT NP_001395359.1:p.Thr690_Tyr719delinsHisTrp inframe indel NM_001408431.1:c.2068_2094del27insCACTGGTAGAGT NP_001395360.1:p.Thr690_Tyr719delinsHisTrp inframe indel NM_001408432.1:c.2065_2091del27insCACTGGTAGAGT NP_001395361.1:p.Thr689_Tyr718delinsHisTrp inframe indel NM_001408433.1:c.2065_2091del27insCACTGGTAGAGT NP_001395362.1:p.Thr689_Tyr718delinsHisTrp inframe indel NM_001408434.1:c.2065_2091del27insCACTGGTAGAGT NP_001395363.1:p.Thr689_Tyr718delinsHisTrp inframe indel NM_001408435.1:c.2065_2091del27insCACTGGTAGAGT NP_001395364.1:p.Thr689_Tyr718delinsHisTrp inframe indel NM_001408436.1:c.2065_2091del27insCACTGGTAGAGT NP_001395365.1:p.Thr689_Tyr718delinsHisTrp inframe indel NM_001408437.1:c.2065_2091del27insCACTGGTAGAGT NP_001395366.1:p.Thr689_Tyr718delinsHisTrp inframe indel NM_001408438.1:c.2065_2091del27insCACTGGTAGAGT NP_001395367.1:p.Thr689_Tyr718delinsHisTrp inframe indel NM_001408439.1:c.2065_2091del27insCACTGGTAGAGT NP_001395368.1:p.Thr689_Tyr718delinsHisTrp inframe indel NM_001408440.1:c.2065_2091del27insCACTGGTAGAGT NP_001395369.1:p.Thr689_Tyr718delinsHisTrp inframe indel NM_001408441.1:c.2065_2091del27insCACTGGTAGAGT NP_001395370.1:p.Thr689_Tyr718delinsHisTrp inframe indel NM_001408442.1:c.2065_2091del27insCACTGGTAGAGT NP_001395371.1:p.Thr689_Tyr718delinsHisTrp inframe indel NM_001408443.1:c.2065_2091del27insCACTGGTAGAGT NP_001395372.1:p.Thr689_Tyr718delinsHisTrp inframe indel NM_001408444.1:c.2065_2091del27insCACTGGTAGAGT NP_001395373.1:p.Thr689_Tyr718delinsHisTrp inframe indel NM_001408445.1:c.2062_2088del27insCACTGGTAGAGT NP_001395374.1:p.Thr688_Tyr717delinsHisTrp inframe indel NM_001408446.1:c.2062_2088del27insCACTGGTAGAGT NP_001395375.1:p.Thr688_Tyr717delinsHisTrp inframe indel NM_001408447.1:c.2062_2088del27insCACTGGTAGAGT NP_001395376.1:p.Thr688_Tyr717delinsHisTrp inframe indel NM_001408448.1:c.2062_2088del27insCACTGGTAGAGT NP_001395377.1:p.Thr688_Tyr717delinsHisTrp inframe indel NM_001408450.1:c.2062_2088del27insCACTGGTAGAGT NP_001395379.1:p.Thr688_Tyr717delinsHisTrp inframe indel NM_001408451.1:c.2056_2082del27insCACTGGTAGAGT NP_001395380.1:p.Thr686_Tyr715delinsHisTrp inframe indel NM_001408452.1:c.2050_2076del27insCACTGGTAGAGT NP_001395381.1:p.Thr684_Tyr713delinsHisTrp inframe indel NM_001408453.1:c.2050_2076del27insCACTGGTAGAGT NP_001395382.1:p.Thr684_Tyr713delinsHisTrp inframe indel NM_001408454.1:c.2050_2076del27insCACTGGTAGAGT NP_001395383.1:p.Thr684_Tyr713delinsHisTrp inframe indel NM_001408455.1:c.2050_2076del27insCACTGGTAGAGT NP_001395384.1:p.Thr684_Tyr713delinsHisTrp inframe indel NM_001408456.1:c.2050_2076del27insCACTGGTAGAGT NP_001395385.1:p.Thr684_Tyr713delinsHisTrp inframe indel NM_001408457.1:c.2050_2076del27insCACTGGTAGAGT NP_001395386.1:p.Thr684_Tyr713delinsHisTrp inframe indel NM_001408458.1:c.2047_2073del27insCACTGGTAGAGT NP_001395387.1:p.Thr683_Tyr712delinsHisTrp inframe indel NM_001408459.1:c.2047_2073del27insCACTGGTAGAGT NP_001395388.1:p.Thr683_Tyr712delinsHisTrp inframe indel NM_001408460.1:c.2047_2073del27insCACTGGTAGAGT NP_001395389.1:p.Thr683_Tyr712delinsHisTrp inframe indel NM_001408461.1:c.2047_2073del27insCACTGGTAGAGT NP_001395390.1:p.Thr683_Tyr712delinsHisTrp inframe indel NM_001408462.1:c.2047_2073del27insCACTGGTAGAGT NP_001395391.1:p.Thr683_Tyr712delinsHisTrp inframe indel NM_001408463.1:c.2047_2073del27insCACTGGTAGAGT NP_001395392.1:p.Thr683_Tyr712delinsHisTrp inframe indel NM_001408464.1:c.2047_2073del27insCACTGGTAGAGT NP_001395393.1:p.Thr683_Tyr712delinsHisTrp inframe indel NM_001408465.1:c.2047_2073del27insCACTGGTAGAGT NP_001395394.1:p.Thr683_Tyr712delinsHisTrp inframe indel NM_001408466.1:c.2047_2073del27insCACTGGTAGAGT NP_001395395.1:p.Thr683_Tyr712delinsHisTrp inframe indel NM_001408467.1:c.2047_2073del27insCACTGGTAGAGT NP_001395396.1:p.Thr683_Tyr712delinsHisTrp inframe indel NM_001408468.1:c.2044_2070del27insCACTGGTAGAGT NP_001395397.1:p.Thr682_Tyr711delinsHisTrp inframe indel NM_001408469.1:c.2044_2070del27insCACTGGTAGAGT NP_001395398.1:p.Thr682_Tyr711delinsHisTrp inframe indel NM_001408470.1:c.2044_2070del27insCACTGGTAGAGT NP_001395399.1:p.Thr682_Tyr711delinsHisTrp inframe indel NM_001408472.1:c.*14_*40del27insCACTGGTAGAGT NM_001408473.1:c.*14_*40del27insCACTGGTAGAGT NM_001408474.1:c.1990_2016del27insCACTGGTAGAGT NP_001395403.1:p.Thr664_Tyr693delinsHisTrp inframe indel NM_001408475.1:c.1987_2013del27insCACTGGTAGAGT NP_001395404.1:p.Thr663_Tyr692delinsHisTrp inframe indel NM_001408476.1:c.1987_2013del27insCACTGGTAGAGT NP_001395405.1:p.Thr663_Tyr692delinsHisTrp inframe indel NM_001408478.1:c.1981_2007del27insCACTGGTAGAGT NP_001395407.1:p.Thr661_Tyr690delinsHisTrp inframe indel NM_001408479.1:c.1981_2007del27insCACTGGTAGAGT NP_001395408.1:p.Thr661_Tyr690delinsHisTrp inframe indel NM_001408480.1:c.1981_2007del27insCACTGGTAGAGT NP_001395409.1:p.Thr661_Tyr690delinsHisTrp inframe indel NM_001408481.1:c.1978_2004del27insCACTGGTAGAGT NP_001395410.1:p.Thr660_Tyr689delinsHisTrp inframe indel NM_001408482.1:c.1978_2004del27insCACTGGTAGAGT NP_001395411.1:p.Thr660_Tyr689delinsHisTrp inframe indel NM_001408483.1:c.1978_2004del27insCACTGGTAGAGT NP_001395412.1:p.Thr660_Tyr689delinsHisTrp inframe indel NM_001408484.1:c.1978_2004del27insCACTGGTAGAGT NP_001395413.1:p.Thr660_Tyr689delinsHisTrp inframe indel NM_001408485.1:c.1978_2004del27insCACTGGTAGAGT NP_001395414.1:p.Thr660_Tyr689delinsHisTrp inframe indel NM_001408489.1:c.1978_2004del27insCACTGGTAGAGT NP_001395418.1:p.Thr660_Tyr689delinsHisTrp inframe indel NM_001408490.1:c.1978_2004del27insCACTGGTAGAGT NP_001395419.1:p.Thr660_Tyr689delinsHisTrp inframe indel NM_001408491.1:c.1978_2004del27insCACTGGTAGAGT NP_001395420.1:p.Thr660_Tyr689delinsHisTrp inframe indel NM_001408492.1:c.1975_2001del27insCACTGGTAGAGT NP_001395421.1:p.Thr659_Tyr688delinsHisTrp inframe indel NM_001408493.1:c.1975_2001del27insCACTGGTAGAGT NP_001395422.1:p.Thr659_Tyr688delinsHisTrp inframe indel NM_001408494.1:c.1951_1977del27insCACTGGTAGAGT NP_001395423.1:p.Thr651_Tyr680delinsHisTrp inframe indel NM_001408495.1:c.1945_1971del27insCACTGGTAGAGT NP_001395424.1:p.Thr649_Tyr678delinsHisTrp inframe indel NM_001408496.1:c.1927_1953del27insCACTGGTAGAGT NP_001395425.1:p.Thr643_Tyr672delinsHisTrp inframe indel NM_001408497.1:c.1927_1953del27insCACTGGTAGAGT NP_001395426.1:p.Thr643_Tyr672delinsHisTrp inframe indel NM_001408498.1:c.1927_1953del27insCACTGGTAGAGT NP_001395427.1:p.Thr643_Tyr672delinsHisTrp inframe indel NM_001408499.1:c.1927_1953del27insCACTGGTAGAGT NP_001395428.1:p.Thr643_Tyr672delinsHisTrp inframe indel NM_001408500.1:c.1927_1953del27insCACTGGTAGAGT NP_001395429.1:p.Thr643_Tyr672delinsHisTrp inframe indel NM_001408501.1:c.1927_1953del27insCACTGGTAGAGT NP_001395430.1:p.Thr643_Tyr672delinsHisTrp inframe indel NM_001408502.1:c.1924_1950del27insCACTGGTAGAGT NP_001395431.1:p.Thr642_Tyr671delinsHisTrp inframe indel NM_001408503.1:c.1924_1950del27insCACTGGTAGAGT NP_001395432.1:p.Thr642_Tyr671delinsHisTrp inframe indel NM_001408504.1:c.1924_1950del27insCACTGGTAGAGT NP_001395433.1:p.Thr642_Tyr671delinsHisTrp inframe indel NM_001408505.1:c.1921_1947del27insCACTGGTAGAGT NP_001395434.1:p.Thr641_Tyr670delinsHisTrp inframe indel NM_001408506.1:c.1864_1890del27insCACTGGTAGAGT NP_001395435.1:p.Thr622_Tyr651delinsHisTrp inframe indel NM_001408507.1:c.1861_1887del27insCACTGGTAGAGT NP_001395436.1:p.Thr621_Tyr650delinsHisTrp inframe indel NM_001408508.1:c.1852_1878del27insCACTGGTAGAGT NP_001395437.1:p.Thr618_Tyr647delinsHisTrp inframe indel NM_001408509.1:c.1849_1875del27insCACTGGTAGAGT NP_001395438.1:p.Thr617_Tyr646delinsHisTrp inframe indel NM_001408510.1:c.1810_1836del27insCACTGGTAGAGT NP_001395439.1:p.Thr604_Tyr633delinsHisTrp inframe indel NM_001408511.1:c.1807_1833del27insCACTGGTAGAGT NP_001395440.1:p.Thr603_Tyr632delinsHisTrp inframe indel NM_001408512.1:c.1687_1713del27insCACTGGTAGAGT NP_001395441.1:p.Thr563_Tyr592delinsHisTrp inframe indel NM_001408513.1:c.1660_1686del27insCACTGGTAGAGT NP_001395442.1:p.Thr554_Tyr583delinsHisTrp inframe indel NM_001408514.1:c.1264_1290del27insCACTGGTAGAGT NP_001395443.1:p.Thr422_Tyr451delinsHisTrp inframe indel NM_007297.4:c.5359_5385delinsCACTGGTAGAGT NP_009228.2:p.Thr1787_Val1795delinsHisTrpTer nonsense NM_007298.4:c.2188_2214del27insCACTGGTAGAGT NP_009229.2:p.Thr730_Tyr759delinsHisTrp inframe indel NM_007299.4:c.*14_*40delinsCACTGGTAGAGT 3 prime UTR NM_007300.4:c.5563_5589delinsCACTGGTAGAGT NP_009231.2:p.Thr1855_Val1863delinsHisTrpTer nonsense NM_007304.2:c.2188_2214del27insCACTGGTAGAGT NP_009235.2:p.Thr730_Tyr759delinsHisTrp inframe indel NR_027676.2:n.5677_5703delinsCACTGGTAGAGT non-coding transcript variant NC_000017.11:g.43045744_43045770delinsACTCTACCAGTG NC_000017.10:g.41197761_41197787delinsACTCTACCAGTG NG_005905.2:g.172214_172240delinsCACTGGTAGAGT LRG_292:g.172214_172240delinsCACTGGTAGAGT LRG_292t1:c.5500_5526del27insCACTGGTAGAGT LRG_292p1:p.Thr1834_Tyr1863delinsHisTrp - Protein change
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045743:TACACTGTCCAACACCCACTCTCGGGT:ACTCTACCAGTG
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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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- 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 | ||
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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 |
12752 | 14513 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (1) |
criteria provided, single submitter
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Aug 20, 2021 | RCV001990228.4 |
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
(Aug 20, 2021)
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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: SCV002227604.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 20, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Thr1834_Glu1836delinsHisTrp*) in the BRCA1 gene. While this is not anticipated to result in nonsense mediated decay, … (more)
This sequence change creates a premature translational stop signal (p.Thr1834_Glu1836delinsHisTrp*) in the BRCA1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 30 amino acid(s) of the BRCA1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminal end of the BRCA1 protein partially including the BRCT domain (residues 1646-1859), which is important for DNA repair activity (PMID: 11573086, 14576433, 15133503, 25652403). While functional studies have not been performed to directly test the effect on BRCA1 protein function, this suggests that disruption of the C-terminal portion of the protein is functionally important. A different truncation (p.Tyr1853*) that lies downstream of this variant has been determined to be pathogenic (PMID: 21922593, 10811118, 11739404, 12400015, 7894493, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. (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
HelpTitle | Author | Journal | Year | Link |
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Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway. | Loke J | Human molecular genetics | 2015 | PMID: 25652403 |
Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast. | Millot GA | Human mutation | 2011 | PMID: 21922593 |
Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1. | Williams RS | Nature structural & molecular biology | 2004 | PMID: 15133503 |
The BRCT domain is a phospho-protein binding domain. | Yu X | Science (New York, N.Y.) | 2003 | PMID: 14576433 |
Direct interaction between BRCA1 and the estrogen receptor regulates vascular endothelial growth factor (VEGF) transcription and secretion in breast cancer cells. | Kawai H | Oncogene | 2002 | PMID: 12400015 |
BRCA1-induced large-scale chromatin unfolding and allele-specific effects of cancer-predisposing mutations. | Ye Q | The Journal of cell biology | 2001 | PMID: 11739404 |
Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1. | Williams RS | Nature structural biology | 2001 | PMID: 11573086 |
Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation. | Hayes F | Cancer research | 2000 | PMID: 10811118 |
Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. | Friedman LS | Nature genetics | 1994 | PMID: 7894493 |
Text-mined citations for rs2152535126 ...
HelpRecord last updated Feb 20, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.