This variant replaces 7 nucleotides in exon 15 of the BRCA1 gene with a c.G nucleotide, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in an individual affected with hereditary breast and/or ovarian cancer (PMID: 29907814). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4688_4694delinsG (p.Tyr1563_Glu1565delinsTer)
Germline
Classification
Help
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.
(1)
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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.
Pathogenic
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4688_4694delinsG (p.Tyr1563_Glu1565delinsTer)
Variation ID: 491085 Accession: VCV000491085.5
- Type and length
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Indel, 7 bp
- Location
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Cytogenetic: 17q21.31 17: 43071220-43071226 (GRCh38) [ NCBI UCSC ] 17: 41223237-41223243 (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 Feb 19, 2018 Jan 8, 2022 Apr 12, 2021 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4688_4694delinsG MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Tyr1563_Glu1565delinsTer nonsense NM_001407571.1:c.4475_4481delACCTGGAinsG NP_001394500.1:p.Tyr1492_Tyr1792del inframe indel NM_001407581.1:c.4754_4760delACCTGGAinsG NP_001394510.1:p.Tyr1585_Tyr1885del inframe indel NM_001407582.1:c.4754_4760delACCTGGAinsG NP_001394511.1:p.Tyr1585_Tyr1885del inframe indel NM_001407583.1:c.4751_4757delACCTGGAinsG NP_001394512.1:p.Tyr1584_Tyr1884del inframe indel NM_001407585.1:c.4751_4757delACCTGGAinsG NP_001394514.1:p.Tyr1584_Tyr1884del inframe indel NM_001407587.1:c.4751_4757delACCTGGAinsG NP_001394516.1:p.Tyr1584_Tyr1884del inframe indel NM_001407590.1:c.4748_4754delACCTGGAinsG NP_001394519.1:p.Tyr1583_Tyr1883del inframe indel NM_001407591.1:c.4748_4754delACCTGGAinsG NP_001394520.1:p.Tyr1583_Tyr1883del inframe indel NM_001407593.1:c.4688_4694delACCTGGAinsG NP_001394522.1:p.Tyr1563_Tyr1863del inframe indel NM_001407594.1:c.4688_4694delACCTGGAinsG NP_001394523.1:p.Tyr1563_Tyr1863del inframe indel NM_001407596.1:c.4688_4694delACCTGGAinsG NP_001394525.1:p.Tyr1563_Tyr1863del inframe indel NM_001407597.1:c.4688_4694delACCTGGAinsG NP_001394526.1:p.Tyr1563_Tyr1863del inframe indel NM_001407598.1:c.4688_4694delACCTGGAinsG NP_001394527.1:p.Tyr1563_Tyr1863del inframe indel NM_001407602.1:c.4688_4694delACCTGGAinsG NP_001394531.1:p.Tyr1563_Tyr1863del inframe indel NM_001407603.1:c.4688_4694delACCTGGAinsG NP_001394532.1:p.Tyr1563_Tyr1863del inframe indel NM_001407605.1:c.4688_4694delACCTGGAinsG NP_001394534.1:p.Tyr1563_Tyr1863del inframe indel NM_001407610.1:c.4685_4691delACCTGGAinsG NP_001394539.1:p.Tyr1562_Tyr1862del inframe indel NM_001407611.1:c.4685_4691delACCTGGAinsG NP_001394540.1:p.Tyr1562_Tyr1862del inframe indel NM_001407612.1:c.4685_4691delACCTGGAinsG NP_001394541.1:p.Tyr1562_Tyr1862del inframe indel NM_001407613.1:c.4685_4691delACCTGGAinsG NP_001394542.1:p.Tyr1562_Tyr1862del inframe indel NM_001407614.1:c.4685_4691delACCTGGAinsG NP_001394543.1:p.Tyr1562_Tyr1862del inframe indel NM_001407615.1:c.4685_4691delACCTGGAinsG NP_001394544.1:p.Tyr1562_Tyr1862del inframe indel NM_001407616.1:c.4685_4691delACCTGGAinsG NP_001394545.1:p.Tyr1562_Tyr1862del inframe indel NM_001407617.1:c.4685_4691delACCTGGAinsG NP_001394546.1:p.Tyr1562_Tyr1862del inframe indel NM_001407618.1:c.4685_4691delACCTGGAinsG NP_001394547.1:p.Tyr1562_Tyr1862del inframe indel NM_001407619.1:c.4685_4691delACCTGGAinsG NP_001394548.1:p.Tyr1562_Tyr1862del inframe indel NM_001407620.1:c.4685_4691delACCTGGAinsG NP_001394549.1:p.Tyr1562_Tyr1862del inframe indel NM_001407621.1:c.4685_4691delACCTGGAinsG NP_001394550.1:p.Tyr1562_Tyr1862del inframe indel NM_001407622.1:c.4685_4691delACCTGGAinsG NP_001394551.1:p.Tyr1562_Tyr1862del inframe indel NM_001407623.1:c.4685_4691delACCTGGAinsG NP_001394552.1:p.Tyr1562_Tyr1862del inframe indel NM_001407624.1:c.4685_4691delACCTGGAinsG NP_001394553.1:p.Tyr1562_Tyr1862del inframe indel NM_001407625.1:c.4685_4691delACCTGGAinsG NP_001394554.1:p.Tyr1562_Tyr1862del inframe indel NM_001407626.1:c.4685_4691delACCTGGAinsG NP_001394555.1:p.Tyr1562_Tyr1862del inframe indel NM_001407627.1:c.4682_4688delACCTGGAinsG NP_001394556.1:p.Tyr1561_Tyr1861del inframe indel NM_001407628.1:c.4682_4688delACCTGGAinsG NP_001394557.1:p.Tyr1561_Tyr1861del inframe indel NM_001407629.1:c.4682_4688delACCTGGAinsG NP_001394558.1:p.Tyr1561_Tyr1861del inframe indel NM_001407630.1:c.4682_4688delACCTGGAinsG NP_001394559.1:p.Tyr1561_Tyr1861del inframe indel NM_001407631.1:c.4682_4688delACCTGGAinsG NP_001394560.1:p.Tyr1561_Tyr1861del inframe indel NM_001407632.1:c.4682_4688delACCTGGAinsG NP_001394561.1:p.Tyr1561_Tyr1861del inframe indel NM_001407633.1:c.4682_4688delACCTGGAinsG NP_001394562.1:p.Tyr1561_Tyr1861del inframe indel NM_001407634.1:c.4682_4688delACCTGGAinsG NP_001394563.1:p.Tyr1561_Tyr1861del inframe indel NM_001407635.1:c.4682_4688delACCTGGAinsG NP_001394564.1:p.Tyr1561_Tyr1861del inframe indel NM_001407636.1:c.4682_4688delACCTGGAinsG NP_001394565.1:p.Tyr1561_Tyr1861del inframe indel NM_001407637.1:c.4682_4688delACCTGGAinsG NP_001394566.1:p.Tyr1561_Tyr1861del inframe indel NM_001407638.1:c.4682_4688delACCTGGAinsG NP_001394567.1:p.Tyr1561_Tyr1861del inframe indel NM_001407639.1:c.4682_4688delACCTGGAinsG NP_001394568.1:p.Tyr1561_Tyr1861del inframe indel NM_001407640.1:c.4682_4688delACCTGGAinsG NP_001394569.1:p.Tyr1561_Tyr1861del inframe indel NM_001407641.1:c.4682_4688delACCTGGAinsG NP_001394570.1:p.Tyr1561_Tyr1861del inframe indel NM_001407642.1:c.4682_4688delACCTGGAinsG NP_001394571.1:p.Tyr1561_Tyr1861del inframe indel NM_001407644.1:c.4679_4685delACCTGGAinsG NP_001394573.1:p.Tyr1560_Tyr1860del inframe indel NM_001407645.1:c.4679_4685delACCTGGAinsG NP_001394574.1:p.Tyr1560_Tyr1860del inframe indel NM_001407646.1:c.4676_4682delACCTGGAinsG NP_001394575.1:p.Tyr1559_Tyr1859del inframe indel NM_001407647.1:c.4673_4679delACCTGGAinsG NP_001394576.1:p.Tyr1558_Tyr1858del inframe indel NM_001407648.1:c.4631_4637delACCTGGAinsG NP_001394577.1:p.Tyr1544_Tyr1844del inframe indel NM_001407649.1:c.4628_4634delACCTGGAinsG NP_001394578.1:p.Tyr1543_Tyr1843del inframe indel NM_001407652.1:c.4688_4694delACCTGGAinsG NP_001394581.1:p.Tyr1563_Tyr1837del inframe indel NM_001407653.1:c.4610_4616delACCTGGAinsG NP_001394582.1:p.Tyr1537_Tyr1837del inframe indel NM_001407654.1:c.4610_4616delACCTGGAinsG NP_001394583.1:p.Tyr1537_Tyr1837del inframe indel NM_001407655.1:c.4610_4616delACCTGGAinsG NP_001394584.1:p.Tyr1537_Tyr1837del inframe indel NM_001407656.1:c.4607_4613delACCTGGAinsG NP_001394585.1:p.Tyr1536_Tyr1836del inframe indel NM_001407657.1:c.4607_4613delACCTGGAinsG NP_001394586.1:p.Tyr1536_Tyr1836del inframe indel NM_001407658.1:c.4607_4613delACCTGGAinsG NP_001394587.1:p.Tyr1536_Tyr1836del inframe indel NM_001407659.1:c.4604_4610delACCTGGAinsG NP_001394588.1:p.Tyr1535_Tyr1835del inframe indel NM_001407660.1:c.4604_4610delACCTGGAinsG NP_001394589.1:p.Tyr1535_Tyr1835del inframe indel NM_001407661.1:c.4604_4610delACCTGGAinsG NP_001394590.1:p.Tyr1535_Tyr1835del inframe indel NM_001407662.1:c.4604_4610delACCTGGAinsG NP_001394591.1:p.Tyr1535_Tyr1835del inframe indel NM_001407663.1:c.4604_4610delACCTGGAinsG NP_001394592.1:p.Tyr1535_Tyr1835del inframe indel NM_001407664.1:c.4565_4571delACCTGGAinsG NP_001394593.1:p.Tyr1522_Tyr1822del inframe indel NM_001407665.1:c.4565_4571delACCTGGAinsG NP_001394594.1:p.Tyr1522_Tyr1822del inframe indel NM_001407666.1:c.4565_4571delACCTGGAinsG NP_001394595.1:p.Tyr1522_Tyr1822del inframe indel NM_001407667.1:c.4565_4571delACCTGGAinsG NP_001394596.1:p.Tyr1522_Tyr1822del inframe indel NM_001407668.1:c.4565_4571delACCTGGAinsG NP_001394597.1:p.Tyr1522_Tyr1822del inframe indel NM_001407669.1:c.4565_4571delACCTGGAinsG NP_001394598.1:p.Tyr1522_Tyr1822del inframe indel NM_001407670.1:c.4562_4568delACCTGGAinsG NP_001394599.1:p.Tyr1521_Tyr1821del inframe indel NM_001407671.1:c.4562_4568delACCTGGAinsG NP_001394600.1:p.Tyr1521_Tyr1821del inframe indel NM_001407672.1:c.4562_4568delACCTGGAinsG NP_001394601.1:p.Tyr1521_Tyr1821del inframe indel NM_001407673.1:c.4562_4568delACCTGGAinsG NP_001394602.1:p.Tyr1521_Tyr1821del inframe indel NM_001407674.1:c.4562_4568delACCTGGAinsG NP_001394603.1:p.Tyr1521_Tyr1821del inframe indel NM_001407675.1:c.4562_4568delACCTGGAinsG NP_001394604.1:p.Tyr1521_Tyr1821del inframe indel NM_001407676.1:c.4562_4568delACCTGGAinsG NP_001394605.1:p.Tyr1521_Tyr1821del inframe indel NM_001407677.1:c.4562_4568delACCTGGAinsG NP_001394606.1:p.Tyr1521_Tyr1821del inframe indel NM_001407678.1:c.4562_4568delACCTGGAinsG NP_001394607.1:p.Tyr1521_Tyr1821del inframe indel NM_001407679.1:c.4562_4568delACCTGGAinsG NP_001394608.1:p.Tyr1521_Tyr1821del inframe indel NM_001407680.1:c.4562_4568delACCTGGAinsG NP_001394609.1:p.Tyr1521_Tyr1821del inframe indel NM_001407681.1:c.4559_4565delACCTGGAinsG NP_001394610.1:p.Tyr1520_Tyr1820del inframe indel NM_001407682.1:c.4559_4565delACCTGGAinsG NP_001394611.1:p.Tyr1520_Tyr1820del inframe indel NM_001407683.1:c.4559_4565delACCTGGAinsG NP_001394612.1:p.Tyr1520_Tyr1820del inframe indel NM_001407684.1:c.4688_4694delACCTGGAinsG NP_001394613.1:p.Tyr1563_Tyr1820del inframe indel NM_001407685.1:c.4559_4565delACCTGGAinsG NP_001394614.1:p.Tyr1520_Tyr1820del inframe indel NM_001407686.1:c.4559_4565delACCTGGAinsG NP_001394615.1:p.Tyr1520_Tyr1820del inframe indel NM_001407687.1:c.4559_4565delACCTGGAinsG NP_001394616.1:p.Tyr1520_Tyr1820del inframe indel NM_001407688.1:c.4559_4565delACCTGGAinsG NP_001394617.1:p.Tyr1520_Tyr1820del inframe indel NM_001407689.1:c.4559_4565delACCTGGAinsG NP_001394618.1:p.Tyr1520_Tyr1820del inframe indel NM_001407690.1:c.4556_4562delACCTGGAinsG NP_001394619.1:p.Tyr1519_Tyr1819del inframe indel NM_001407691.1:c.4556_4562delACCTGGAinsG NP_001394620.1:p.Tyr1519_Tyr1819del inframe indel NM_001407692.1:c.4547_4553delACCTGGAinsG NP_001394621.1:p.Tyr1516_Tyr1816del inframe indel NM_001407694.1:c.4547_4553delACCTGGAinsG NP_001394623.1:p.Tyr1516_Tyr1816del inframe indel NM_001407695.1:c.4547_4553delACCTGGAinsG NP_001394624.1:p.Tyr1516_Tyr1816del inframe indel NM_001407696.1:c.4547_4553delACCTGGAinsG NP_001394625.1:p.Tyr1516_Tyr1816del inframe indel NM_001407697.1:c.4547_4553delACCTGGAinsG NP_001394626.1:p.Tyr1516_Tyr1816del inframe indel NM_001407698.1:c.4547_4553delACCTGGAinsG NP_001394627.1:p.Tyr1516_Tyr1816del inframe indel NM_001407724.1:c.4547_4553delACCTGGAinsG NP_001394653.1:p.Tyr1516_Tyr1816del inframe indel NM_001407725.1:c.4547_4553delACCTGGAinsG NP_001394654.1:p.Tyr1516_Tyr1816del inframe indel NM_001407726.1:c.4547_4553delACCTGGAinsG NP_001394655.1:p.Tyr1516_Tyr1816del inframe indel NM_001407727.1:c.4547_4553delACCTGGAinsG NP_001394656.1:p.Tyr1516_Tyr1816del inframe indel NM_001407728.1:c.4547_4553delACCTGGAinsG NP_001394657.1:p.Tyr1516_Tyr1816del inframe indel NM_001407729.1:c.4547_4553delACCTGGAinsG NP_001394658.1:p.Tyr1516_Tyr1816del inframe indel NM_001407730.1:c.4547_4553delACCTGGAinsG NP_001394659.1:p.Tyr1516_Tyr1816del inframe indel NM_001407731.1:c.4547_4553delACCTGGAinsG NP_001394660.1:p.Tyr1516_Tyr1816del inframe indel NM_001407732.1:c.4544_4550delACCTGGAinsG NP_001394661.1:p.Tyr1515_Tyr1815del inframe indel NM_001407733.1:c.4544_4550delACCTGGAinsG NP_001394662.1:p.Tyr1515_Tyr1815del inframe indel NM_001407734.1:c.4544_4550delACCTGGAinsG NP_001394663.1:p.Tyr1515_Tyr1815del inframe indel NM_001407735.1:c.4544_4550delACCTGGAinsG NP_001394664.1:p.Tyr1515_Tyr1815del inframe indel NM_001407736.1:c.4544_4550delACCTGGAinsG NP_001394665.1:p.Tyr1515_Tyr1815del inframe indel NM_001407737.1:c.4544_4550delACCTGGAinsG NP_001394666.1:p.Tyr1515_Tyr1815del inframe indel NM_001407738.1:c.4544_4550delACCTGGAinsG NP_001394667.1:p.Tyr1515_Tyr1815del inframe indel NM_001407739.1:c.4544_4550delACCTGGAinsG NP_001394668.1:p.Tyr1515_Tyr1815del inframe indel NM_001407740.1:c.4544_4550delACCTGGAinsG NP_001394669.1:p.Tyr1515_Tyr1815del inframe indel NM_001407741.1:c.4544_4550delACCTGGAinsG NP_001394670.1:p.Tyr1515_Tyr1815del inframe indel NM_001407742.1:c.4544_4550delACCTGGAinsG NP_001394671.1:p.Tyr1515_Tyr1815del inframe indel NM_001407743.1:c.4544_4550delACCTGGAinsG NP_001394672.1:p.Tyr1515_Tyr1815del inframe indel NM_001407744.1:c.4544_4550delACCTGGAinsG NP_001394673.1:p.Tyr1515_Tyr1815del inframe indel NM_001407745.1:c.4544_4550delACCTGGAinsG NP_001394674.1:p.Tyr1515_Tyr1815del inframe indel NM_001407746.1:c.4544_4550delACCTGGAinsG NP_001394675.1:p.Tyr1515_Tyr1815del inframe indel NM_001407747.1:c.4544_4550delACCTGGAinsG NP_001394676.1:p.Tyr1515_Tyr1815del inframe indel NM_001407748.1:c.4544_4550delACCTGGAinsG NP_001394677.1:p.Tyr1515_Tyr1815del inframe indel NM_001407749.1:c.4544_4550delACCTGGAinsG NP_001394678.1:p.Tyr1515_Tyr1815del inframe indel NM_001407750.1:c.4544_4550delACCTGGAinsG NP_001394679.1:p.Tyr1515_Tyr1815del inframe indel NM_001407751.1:c.4544_4550delACCTGGAinsG NP_001394680.1:p.Tyr1515_Tyr1815del inframe indel NM_001407752.1:c.4544_4550delACCTGGAinsG NP_001394681.1:p.Tyr1515_Tyr1815del inframe indel NM_001407838.1:c.4541_4547delACCTGGAinsG NP_001394767.1:p.Tyr1514_Tyr1814del inframe indel NM_001407839.1:c.4541_4547delACCTGGAinsG NP_001394768.1:p.Tyr1514_Tyr1814del inframe indel NM_001407841.1:c.4541_4547delACCTGGAinsG NP_001394770.1:p.Tyr1514_Tyr1814del inframe indel NM_001407842.1:c.4541_4547delACCTGGAinsG NP_001394771.1:p.Tyr1514_Tyr1814del inframe indel NM_001407843.1:c.4541_4547delACCTGGAinsG NP_001394772.1:p.Tyr1514_Tyr1814del inframe indel NM_001407844.1:c.4541_4547delACCTGGAinsG NP_001394773.1:p.Tyr1514_Tyr1814del inframe indel NM_001407845.1:c.4541_4547delACCTGGAinsG NP_001394774.1:p.Tyr1514_Tyr1814del inframe indel NM_001407846.1:c.4541_4547delACCTGGAinsG NP_001394775.1:p.Tyr1514_Tyr1814del inframe indel NM_001407847.1:c.4541_4547delACCTGGAinsG NP_001394776.1:p.Tyr1514_Tyr1814del inframe indel NM_001407848.1:c.4541_4547delACCTGGAinsG NP_001394777.1:p.Tyr1514_Tyr1814del inframe indel NM_001407849.1:c.4541_4547delACCTGGAinsG NP_001394778.1:p.Tyr1514_Tyr1814del inframe indel NM_001407850.1:c.4541_4547delACCTGGAinsG NP_001394779.1:p.Tyr1514_Tyr1814del inframe indel NM_001407851.1:c.4541_4547delACCTGGAinsG NP_001394780.1:p.Tyr1514_Tyr1814del inframe indel NM_001407852.1:c.4541_4547delACCTGGAinsG NP_001394781.1:p.Tyr1514_Tyr1814del inframe indel NM_001407853.1:c.4541_4547delACCTGGAinsG NP_001394782.1:p.Tyr1514_Tyr1814del inframe indel NM_001407854.1:c.4688_4694delACCTGGAinsG NP_001394783.1:p.Tyr1563_Val1803del inframe indel NM_001407858.1:c.4685_4691delACCTGGAinsG NP_001394787.1:p.Tyr1562_Val1802del inframe indel NM_001407859.1:c.4685_4691delACCTGGAinsG NP_001394788.1:p.Tyr1562_Val1802del inframe indel NM_001407860.1:c.4685_4691delACCTGGAinsG NP_001394789.1:p.Tyr1562_Val1802del inframe indel NM_001407861.1:c.4682_4688delACCTGGAinsG NP_001394790.1:p.Tyr1561_Val1801del inframe indel NM_001407862.1:c.4487_4493delACCTGGAinsG NP_001394791.1:p.Tyr1496_Tyr1796del inframe indel NM_001407863.1:c.4562_4568delACCTGGAinsG NP_001394792.1:p.Tyr1521_Tyr1795del inframe indel NM_001407874.1:c.4481_4487delACCTGGAinsG NP_001394803.1:p.Tyr1494_Tyr1794del inframe indel NM_001407875.1:c.4481_4487delACCTGGAinsG NP_001394804.1:p.Tyr1494_Tyr1794del inframe indel NM_001407879.1:c.4478_4484delACCTGGAinsG NP_001394808.1:p.Tyr1493_Tyr1793del inframe indel NM_001407881.1:c.4478_4484delACCTGGAinsG NP_001394810.1:p.Tyr1493_Tyr1793del inframe indel NM_001407882.1:c.4478_4484delACCTGGAinsG NP_001394811.1:p.Tyr1493_Tyr1793del inframe indel NM_001407884.1:c.4478_4484delACCTGGAinsG NP_001394813.1:p.Tyr1493_Tyr1793del inframe indel NM_001407885.1:c.4478_4484delACCTGGAinsG NP_001394814.1:p.Tyr1493_Tyr1793del inframe indel NM_001407886.1:c.4478_4484delACCTGGAinsG NP_001394815.1:p.Tyr1493_Tyr1793del inframe indel NM_001407887.1:c.4478_4484delACCTGGAinsG NP_001394816.1:p.Tyr1493_Tyr1793del inframe indel NM_001407889.1:c.4478_4484delACCTGGAinsG NP_001394818.1:p.Tyr1493_Tyr1793del inframe indel NM_001407894.1:c.4475_4481delACCTGGAinsG NP_001394823.1:p.Tyr1492_Tyr1792del inframe indel NM_001407895.1:c.4475_4481delACCTGGAinsG NP_001394824.1:p.Tyr1492_Tyr1792del inframe indel NM_001407896.1:c.4475_4481delACCTGGAinsG NP_001394825.1:p.Tyr1492_Tyr1792del inframe indel NM_001407897.1:c.4475_4481delACCTGGAinsG NP_001394826.1:p.Tyr1492_Tyr1792del inframe indel NM_001407898.1:c.4475_4481delACCTGGAinsG NP_001394827.1:p.Tyr1492_Tyr1792del inframe indel NM_001407899.1:c.4475_4481delACCTGGAinsG NP_001394828.1:p.Tyr1492_Tyr1792del inframe indel NM_001407900.1:c.4475_4481delACCTGGAinsG NP_001394829.1:p.Tyr1492_Tyr1792del inframe indel NM_001407902.1:c.4475_4481delACCTGGAinsG NP_001394831.1:p.Tyr1492_Tyr1792del inframe indel NM_001407904.1:c.4475_4481delACCTGGAinsG NP_001394833.1:p.Tyr1492_Tyr1792del inframe indel NM_001407906.1:c.4475_4481delACCTGGAinsG NP_001394835.1:p.Tyr1492_Tyr1792del inframe indel NM_001407907.1:c.4475_4481delACCTGGAinsG NP_001394836.1:p.Tyr1492_Tyr1792del inframe indel NM_001407908.1:c.4475_4481delACCTGGAinsG NP_001394837.1:p.Tyr1492_Tyr1792del inframe indel NM_001407909.1:c.4475_4481delACCTGGAinsG NP_001394838.1:p.Tyr1492_Tyr1792del inframe indel NM_001407910.1:c.4475_4481delACCTGGAinsG NP_001394839.1:p.Tyr1492_Tyr1792del inframe indel NM_001407915.1:c.4472_4478delACCTGGAinsG NP_001394844.1:p.Tyr1491_Tyr1791del inframe indel NM_001407916.1:c.4472_4478delACCTGGAinsG NP_001394845.1:p.Tyr1491_Tyr1791del inframe indel NM_001407917.1:c.4472_4478delACCTGGAinsG NP_001394846.1:p.Tyr1491_Tyr1791del inframe indel NM_001407918.1:c.4472_4478delACCTGGAinsG NP_001394847.1:p.Tyr1491_Tyr1791del inframe indel NM_001407919.1:c.4565_4571delACCTGGAinsG NP_001394848.1:p.Tyr1522_Tyr1779del inframe indel NM_001407920.1:c.4424_4430delACCTGGAinsG NP_001394849.1:p.Tyr1475_Tyr1775del inframe indel NM_001407921.1:c.4424_4430delACCTGGAinsG NP_001394850.1:p.Tyr1475_Tyr1775del inframe indel NM_001407922.1:c.4424_4430delACCTGGAinsG NP_001394851.1:p.Tyr1475_Tyr1775del inframe indel NM_001407923.1:c.4424_4430delACCTGGAinsG NP_001394852.1:p.Tyr1475_Tyr1775del inframe indel NM_001407924.1:c.4424_4430delACCTGGAinsG NP_001394853.1:p.Tyr1475_Tyr1775del inframe indel NM_001407925.1:c.4424_4430delACCTGGAinsG NP_001394854.1:p.Tyr1475_Tyr1775del inframe indel NM_001407926.1:c.4424_4430delACCTGGAinsG NP_001394855.1:p.Tyr1475_Tyr1775del inframe indel NM_001407927.1:c.4421_4427delACCTGGAinsG NP_001394856.1:p.Tyr1474_Tyr1774del inframe indel NM_001407928.1:c.4421_4427delACCTGGAinsG NP_001394857.1:p.Tyr1474_Tyr1774del inframe indel NM_001407929.1:c.4421_4427delACCTGGAinsG NP_001394858.1:p.Tyr1474_Tyr1774del inframe indel NM_001407930.1:c.4421_4427delACCTGGAinsG NP_001394859.1:p.Tyr1474_Tyr1774del inframe indel NM_001407931.1:c.4421_4427delACCTGGAinsG NP_001394860.1:p.Tyr1474_Tyr1774del inframe indel NM_001407932.1:c.4421_4427delACCTGGAinsG NP_001394861.1:p.Tyr1474_Tyr1774del inframe indel NM_001407933.1:c.4421_4427delACCTGGAinsG NP_001394862.1:p.Tyr1474_Tyr1774del inframe indel NM_001407934.1:c.4418_4424delACCTGGAinsG NP_001394863.1:p.Tyr1473_Tyr1773del inframe indel NM_001407935.1:c.4418_4424delACCTGGAinsG NP_001394864.1:p.Tyr1473_Tyr1773del inframe indel NM_001407936.1:c.4418_4424delACCTGGAinsG NP_001394865.1:p.Tyr1473_Tyr1773del inframe indel NM_001407937.1:c.4565_4571delACCTGGAinsG NP_001394866.1:p.Tyr1522_Val1762del inframe indel NM_001407938.1:c.4565_4571delACCTGGAinsG NP_001394867.1:p.Tyr1522_Val1762del inframe indel NM_001407939.1:c.4562_4568delACCTGGAinsG NP_001394868.1:p.Tyr1521_Val1761del inframe indel NM_001407940.1:c.4562_4568delACCTGGAinsG NP_001394869.1:p.Tyr1521_Val1761del inframe indel NM_001407941.1:c.4559_4565delACCTGGAinsG NP_001394870.1:p.Tyr1520_Val1760del inframe indel NM_001407942.1:c.4547_4553delACCTGGAinsG NP_001394871.1:p.Tyr1516_Val1756del inframe indel NM_001407943.1:c.4544_4550delACCTGGAinsG NP_001394872.1:p.Tyr1515_Val1755del inframe indel NM_001407944.1:c.4544_4550delACCTGGAinsG NP_001394873.1:p.Tyr1515_Val1755del inframe indel NM_001407945.1:c.4544_4550delACCTGGAinsG NP_001394874.1:p.Tyr1515_Val1755del inframe indel NM_001407946.1:c.4355_4361delACCTGGAinsG NP_001394875.1:p.Tyr1452_Tyr1752del inframe indel NM_001407947.1:c.4355_4361delACCTGGAinsG NP_001394876.1:p.Tyr1452_Tyr1752del inframe indel NM_001407948.1:c.4355_4361delACCTGGAinsG NP_001394877.1:p.Tyr1452_Tyr1752del inframe indel NM_001407949.1:c.4355_4361delACCTGGAinsG NP_001394878.1:p.Tyr1452_Tyr1752del inframe indel NM_001407950.1:c.4352_4358delACCTGGAinsG NP_001394879.1:p.Tyr1451_Tyr1751del inframe indel NM_001407951.1:c.4352_4358delACCTGGAinsG NP_001394880.1:p.Tyr1451_Tyr1751del inframe indel NM_001407952.1:c.4352_4358delACCTGGAinsG NP_001394881.1:p.Tyr1451_Tyr1751del inframe indel NM_001407953.1:c.4352_4358delACCTGGAinsG NP_001394882.1:p.Tyr1451_Tyr1751del inframe indel NM_001407954.1:c.4352_4358delACCTGGAinsG NP_001394883.1:p.Tyr1451_Tyr1751del inframe indel NM_001407955.1:c.4352_4358delACCTGGAinsG NP_001394884.1:p.Tyr1451_Tyr1751del inframe indel NM_001407956.1:c.4349_4355delACCTGGAinsG NP_001394885.1:p.Tyr1450_Tyr1750del inframe indel NM_001407957.1:c.4349_4355delACCTGGAinsG NP_001394886.1:p.Tyr1450_Tyr1750del inframe indel NM_001407958.1:c.4349_4355delACCTGGAinsG NP_001394887.1:p.Tyr1450_Tyr1750del inframe indel NM_001407959.1:c.4307_4313delACCTGGAinsG NP_001394888.1:p.Tyr1436_Tyr1736del inframe indel NM_001407960.1:c.4304_4310delACCTGGAinsG NP_001394889.1:p.Tyr1435_Tyr1735del inframe indel NM_001407962.1:c.4304_4310delACCTGGAinsG NP_001394891.1:p.Tyr1435_Tyr1735del inframe indel NM_001407963.1:c.4301_4307delACCTGGAinsG NP_001394892.1:p.Tyr1434_Tyr1734del inframe indel NM_001407964.1:c.4226_4232delACCTGGAinsG NP_001394893.1:p.Tyr1409_Tyr1709del inframe indel NM_001407965.1:c.4181_4187delACCTGGAinsG NP_001394894.1:p.Tyr1394_Tyr1694del inframe indel NM_001407966.1:c.3800_3806delACCTGGAinsG NP_001394895.1:p.Tyr1267_Tyr1567del inframe indel NM_001407967.1:c.3797_3803delACCTGGAinsG NP_001394896.1:p.Tyr1266_Tyr1566del inframe indel NM_001407968.1:c.2084_2090delACCTGGAinsG NP_001394897.1:p.Tyr695_Tyr995del inframe indel NM_001407969.1:c.2081_2087delACCTGGAinsG NP_001394898.1:p.Tyr694_Tyr994del inframe indel NM_001407970.1:c.1445_1451delACCTGGAinsG NP_001394899.1:p.Tyr482_Tyr782del inframe indel NM_001407971.1:c.1445_1451delACCTGGAinsG NP_001394900.1:p.Tyr482_Tyr782del inframe indel NM_001407972.1:c.1442_1448delACCTGGAinsG NP_001394901.1:p.Tyr481_Tyr781del inframe indel NM_001407973.1:c.1379_1385delACCTGGAinsG NP_001394902.1:p.Tyr460_Tyr760del inframe indel NM_001407974.1:c.1379_1385delACCTGGAinsG NP_001394903.1:p.Tyr460_Tyr760del inframe indel NM_001407975.1:c.1379_1385delACCTGGAinsG NP_001394904.1:p.Tyr460_Tyr760del inframe indel NM_001407976.1:c.1379_1385delACCTGGAinsG NP_001394905.1:p.Tyr460_Tyr760del inframe indel NM_001407977.1:c.1379_1385delACCTGGAinsG NP_001394906.1:p.Tyr460_Tyr760del inframe indel NM_001407978.1:c.1379_1385delACCTGGAinsG NP_001394907.1:p.Tyr460_Tyr760del inframe indel NM_001407979.1:c.1376_1382delACCTGGAinsG NP_001394908.1:p.Tyr459_Tyr759del inframe indel NM_001407980.1:c.1376_1382delACCTGGAinsG NP_001394909.1:p.Tyr459_Tyr759del inframe indel NM_001407981.1:c.1376_1382delACCTGGAinsG NP_001394910.1:p.Tyr459_Tyr759del inframe indel NM_001407982.1:c.1376_1382delACCTGGAinsG NP_001394911.1:p.Tyr459_Tyr759del inframe indel NM_001407983.1:c.1376_1382delACCTGGAinsG NP_001394912.1:p.Tyr459_Tyr759del inframe indel NM_001407984.1:c.1376_1382delACCTGGAinsG NP_001394913.1:p.Tyr459_Tyr759del inframe indel NM_001407985.1:c.1376_1382delACCTGGAinsG NP_001394914.1:p.Tyr459_Tyr759del inframe indel NM_001407986.1:c.1376_1382delACCTGGAinsG NP_001394915.1:p.Tyr459_Tyr759del inframe indel NM_001407990.1:c.1376_1382delACCTGGAinsG NP_001394919.1:p.Tyr459_Tyr759del inframe indel NM_001407991.1:c.1376_1382delACCTGGAinsG NP_001394920.1:p.Tyr459_Tyr759del inframe indel NM_001407992.1:c.1376_1382delACCTGGAinsG NP_001394921.1:p.Tyr459_Tyr759del inframe indel NM_001407993.1:c.1376_1382delACCTGGAinsG NP_001394922.1:p.Tyr459_Tyr759del inframe indel NM_001408392.1:c.1373_1379delACCTGGAinsG NP_001395321.1:p.Tyr458_Tyr758del inframe indel NM_001408396.1:c.1373_1379delACCTGGAinsG NP_001395325.1:p.Tyr458_Tyr758del inframe indel NM_001408397.1:c.1373_1379delACCTGGAinsG NP_001395326.1:p.Tyr458_Tyr758del inframe indel NM_001408398.1:c.1373_1379delACCTGGAinsG NP_001395327.1:p.Tyr458_Tyr758del inframe indel NM_001408399.1:c.1373_1379delACCTGGAinsG NP_001395328.1:p.Tyr458_Tyr758del inframe indel NM_001408400.1:c.1373_1379delACCTGGAinsG NP_001395329.1:p.Tyr458_Tyr758del inframe indel NM_001408401.1:c.1373_1379delACCTGGAinsG NP_001395330.1:p.Tyr458_Tyr758del inframe indel NM_001408402.1:c.1373_1379delACCTGGAinsG NP_001395331.1:p.Tyr458_Tyr758del inframe indel NM_001408403.1:c.1373_1379delACCTGGAinsG NP_001395332.1:p.Tyr458_Tyr758del inframe indel NM_001408404.1:c.1373_1379delACCTGGAinsG NP_001395333.1:p.Tyr458_Tyr758del inframe indel NM_001408406.1:c.1370_1376delACCTGGAinsG NP_001395335.1:p.Tyr457_Tyr757del inframe indel NM_001408407.1:c.1370_1376delACCTGGAinsG NP_001395336.1:p.Tyr457_Tyr757del inframe indel NM_001408408.1:c.1370_1376delACCTGGAinsG NP_001395337.1:p.Tyr457_Tyr757del inframe indel NM_001408409.1:c.1367_1373delACCTGGAinsG NP_001395338.1:p.Tyr456_Tyr756del inframe indel NM_001408410.1:c.1304_1310delACCTGGAinsG NP_001395339.1:p.Tyr435_Tyr735del inframe indel NM_001408411.1:c.1301_1307delACCTGGAinsG NP_001395340.1:p.Tyr434_Tyr734del inframe indel NM_001408412.1:c.1298_1304delACCTGGAinsG NP_001395341.1:p.Tyr433_Tyr733del inframe indel NM_001408413.1:c.1298_1304delACCTGGAinsG NP_001395342.1:p.Tyr433_Tyr733del inframe indel NM_001408414.1:c.1298_1304delACCTGGAinsG NP_001395343.1:p.Tyr433_Tyr733del inframe indel NM_001408415.1:c.1298_1304delACCTGGAinsG NP_001395344.1:p.Tyr433_Tyr733del inframe indel NM_001408416.1:c.1298_1304delACCTGGAinsG NP_001395345.1:p.Tyr433_Tyr733del inframe indel NM_001408418.1:c.1262_1268delACCTGGAinsG NP_001395347.1:p.Tyr421_Tyr721del inframe indel NM_001408419.1:c.1262_1268delACCTGGAinsG NP_001395348.1:p.Tyr421_Tyr721del inframe indel NM_001408420.1:c.1262_1268delACCTGGAinsG NP_001395349.1:p.Tyr421_Tyr721del inframe indel NM_001408421.1:c.1259_1265delACCTGGAinsG NP_001395350.1:p.Tyr420_Tyr720del inframe indel NM_001408422.1:c.1259_1265delACCTGGAinsG NP_001395351.1:p.Tyr420_Tyr720del inframe indel NM_001408423.1:c.1259_1265delACCTGGAinsG NP_001395352.1:p.Tyr420_Tyr720del inframe indel NM_001408424.1:c.1259_1265delACCTGGAinsG NP_001395353.1:p.Tyr420_Tyr720del inframe indel NM_001408425.1:c.1256_1262delACCTGGAinsG NP_001395354.1:p.Tyr419_Tyr719del inframe indel NM_001408426.1:c.1256_1262delACCTGGAinsG NP_001395355.1:p.Tyr419_Tyr719del inframe indel NM_001408427.1:c.1256_1262delACCTGGAinsG NP_001395356.1:p.Tyr419_Tyr719del inframe indel NM_001408428.1:c.1256_1262delACCTGGAinsG NP_001395357.1:p.Tyr419_Tyr719del inframe indel NM_001408429.1:c.1256_1262delACCTGGAinsG NP_001395358.1:p.Tyr419_Tyr719del inframe indel NM_001408430.1:c.1256_1262delACCTGGAinsG NP_001395359.1:p.Tyr419_Tyr719del inframe indel NM_001408431.1:c.1256_1262delACCTGGAinsG NP_001395360.1:p.Tyr419_Tyr719del inframe indel NM_001408432.1:c.1253_1259delACCTGGAinsG NP_001395361.1:p.Tyr418_Tyr718del inframe indel NM_001408433.1:c.1253_1259delACCTGGAinsG NP_001395362.1:p.Tyr418_Tyr718del inframe indel NM_001408434.1:c.1253_1259delACCTGGAinsG NP_001395363.1:p.Tyr418_Tyr718del inframe indel NM_001408435.1:c.1253_1259delACCTGGAinsG NP_001395364.1:p.Tyr418_Tyr718del inframe indel NM_001408436.1:c.1253_1259delACCTGGAinsG NP_001395365.1:p.Tyr418_Tyr718del inframe indel NM_001408437.1:c.1253_1259delACCTGGAinsG NP_001395366.1:p.Tyr418_Tyr718del inframe indel NM_001408438.1:c.1253_1259delACCTGGAinsG NP_001395367.1:p.Tyr418_Tyr718del inframe indel NM_001408439.1:c.1253_1259delACCTGGAinsG NP_001395368.1:p.Tyr418_Tyr718del inframe indel NM_001408440.1:c.1253_1259delACCTGGAinsG NP_001395369.1:p.Tyr418_Tyr718del inframe indel NM_001408441.1:c.1253_1259delACCTGGAinsG NP_001395370.1:p.Tyr418_Tyr718del inframe indel NM_001408442.1:c.1253_1259delACCTGGAinsG NP_001395371.1:p.Tyr418_Tyr718del inframe indel NM_001408443.1:c.1253_1259delACCTGGAinsG NP_001395372.1:p.Tyr418_Tyr718del inframe indel NM_001408444.1:c.1253_1259delACCTGGAinsG NP_001395373.1:p.Tyr418_Tyr718del inframe indel NM_001408445.1:c.1250_1256delACCTGGAinsG NP_001395374.1:p.Tyr417_Tyr717del inframe indel NM_001408446.1:c.1250_1256delACCTGGAinsG NP_001395375.1:p.Tyr417_Tyr717del inframe indel NM_001408447.1:c.1250_1256delACCTGGAinsG NP_001395376.1:p.Tyr417_Tyr717del inframe indel NM_001408448.1:c.1250_1256delACCTGGAinsG NP_001395377.1:p.Tyr417_Tyr717del inframe indel NM_001408450.1:c.1250_1256delACCTGGAinsG NP_001395379.1:p.Tyr417_Tyr717del inframe indel NM_001408451.1:c.1244_1250delACCTGGAinsG NP_001395380.1:p.Tyr415_Tyr715del inframe indel NM_001408452.1:c.1238_1244delACCTGGAinsG NP_001395381.1:p.Tyr413_Tyr713del inframe indel NM_001408453.1:c.1238_1244delACCTGGAinsG NP_001395382.1:p.Tyr413_Tyr713del inframe indel NM_001408454.1:c.1238_1244delACCTGGAinsG NP_001395383.1:p.Tyr413_Tyr713del inframe indel NM_001408455.1:c.1238_1244delACCTGGAinsG NP_001395384.1:p.Tyr413_Tyr713del inframe indel NM_001408456.1:c.1238_1244delACCTGGAinsG NP_001395385.1:p.Tyr413_Tyr713del inframe indel NM_001408457.1:c.1238_1244delACCTGGAinsG NP_001395386.1:p.Tyr413_Tyr713del inframe indel NM_001408458.1:c.1235_1241delACCTGGAinsG NP_001395387.1:p.Tyr412_Tyr712del inframe indel NM_001408459.1:c.1235_1241delACCTGGAinsG NP_001395388.1:p.Tyr412_Tyr712del inframe indel NM_001408460.1:c.1235_1241delACCTGGAinsG NP_001395389.1:p.Tyr412_Tyr712del inframe indel NM_001408461.1:c.1235_1241delACCTGGAinsG NP_001395390.1:p.Tyr412_Tyr712del inframe indel NM_001408462.1:c.1235_1241delACCTGGAinsG NP_001395391.1:p.Tyr412_Tyr712del inframe indel NM_001408463.1:c.1235_1241delACCTGGAinsG NP_001395392.1:p.Tyr412_Tyr712del inframe indel NM_001408464.1:c.1235_1241delACCTGGAinsG NP_001395393.1:p.Tyr412_Tyr712del inframe indel NM_001408465.1:c.1235_1241delACCTGGAinsG NP_001395394.1:p.Tyr412_Tyr712del inframe indel NM_001408466.1:c.1235_1241delACCTGGAinsG NP_001395395.1:p.Tyr412_Tyr712del inframe indel NM_001408467.1:c.1235_1241delACCTGGAinsG NP_001395396.1:p.Tyr412_Tyr712del inframe indel NM_001408468.1:c.1232_1238delACCTGGAinsG NP_001395397.1:p.Tyr411_Tyr711del inframe indel NM_001408469.1:c.1232_1238delACCTGGAinsG NP_001395398.1:p.Tyr411_Tyr711del inframe indel NM_001408470.1:c.1232_1238delACCTGGAinsG NP_001395399.1:p.Tyr411_Tyr711del inframe indel NM_001408472.1:c.1376_1382delACCTGGAinsG NP_001395401.1:p.Tyr459_Val699del inframe indel NM_001408473.1:c.1373_1379delACCTGGAinsG NP_001395402.1:p.Tyr458_Val698del inframe indel NM_001408474.1:c.1178_1184delACCTGGAinsG NP_001395403.1:p.Tyr393_Tyr693del inframe indel NM_001408475.1:c.1175_1181delACCTGGAinsG NP_001395404.1:p.Tyr392_Tyr692del inframe indel NM_001408476.1:c.1175_1181delACCTGGAinsG NP_001395405.1:p.Tyr392_Tyr692del inframe indel NM_001408478.1:c.1169_1175delACCTGGAinsG NP_001395407.1:p.Tyr390_Tyr690del inframe indel NM_001408479.1:c.1169_1175delACCTGGAinsG NP_001395408.1:p.Tyr390_Tyr690del inframe indel NM_001408480.1:c.1169_1175delACCTGGAinsG NP_001395409.1:p.Tyr390_Tyr690del inframe indel NM_001408481.1:c.1166_1172delACCTGGAinsG NP_001395410.1:p.Tyr389_Tyr689del inframe indel NM_001408482.1:c.1166_1172delACCTGGAinsG NP_001395411.1:p.Tyr389_Tyr689del inframe indel NM_001408483.1:c.1166_1172delACCTGGAinsG NP_001395412.1:p.Tyr389_Tyr689del inframe indel NM_001408484.1:c.1166_1172delACCTGGAinsG NP_001395413.1:p.Tyr389_Tyr689del inframe indel NM_001408485.1:c.1166_1172delACCTGGAinsG NP_001395414.1:p.Tyr389_Tyr689del inframe indel NM_001408489.1:c.1166_1172delACCTGGAinsG NP_001395418.1:p.Tyr389_Tyr689del inframe indel NM_001408490.1:c.1166_1172delACCTGGAinsG NP_001395419.1:p.Tyr389_Tyr689del inframe indel NM_001408491.1:c.1166_1172delACCTGGAinsG NP_001395420.1:p.Tyr389_Tyr689del inframe indel NM_001408492.1:c.1163_1169delACCTGGAinsG NP_001395421.1:p.Tyr388_Tyr688del inframe indel NM_001408493.1:c.1163_1169delACCTGGAinsG NP_001395422.1:p.Tyr388_Tyr688del inframe indel NM_001408494.1:c.1139_1145delACCTGGAinsG NP_001395423.1:p.Tyr380_Tyr680del inframe indel NM_001408495.1:c.1133_1139delACCTGGAinsG NP_001395424.1:p.Tyr378_Tyr678del inframe indel NM_001408496.1:c.1115_1121delACCTGGAinsG NP_001395425.1:p.Tyr372_Tyr672del inframe indel NM_001408497.1:c.1115_1121delACCTGGAinsG NP_001395426.1:p.Tyr372_Tyr672del inframe indel NM_001408498.1:c.1115_1121delACCTGGAinsG NP_001395427.1:p.Tyr372_Tyr672del inframe indel NM_001408499.1:c.1115_1121delACCTGGAinsG NP_001395428.1:p.Tyr372_Tyr672del inframe indel NM_001408500.1:c.1115_1121delACCTGGAinsG NP_001395429.1:p.Tyr372_Tyr672del inframe indel NM_001408501.1:c.1115_1121delACCTGGAinsG NP_001395430.1:p.Tyr372_Tyr672del inframe indel NM_001408502.1:c.1112_1118delACCTGGAinsG NP_001395431.1:p.Tyr371_Tyr671del inframe indel NM_001408503.1:c.1112_1118delACCTGGAinsG NP_001395432.1:p.Tyr371_Tyr671del inframe indel NM_001408504.1:c.1112_1118delACCTGGAinsG NP_001395433.1:p.Tyr371_Tyr671del inframe indel NM_001408505.1:c.1109_1115delACCTGGAinsG NP_001395434.1:p.Tyr370_Tyr670del inframe indel NM_001408506.1:c.1052_1058delACCTGGAinsG NP_001395435.1:p.Tyr351_Tyr651del inframe indel NM_001408507.1:c.1049_1055delACCTGGAinsG NP_001395436.1:p.Tyr350_Tyr650del inframe indel NM_001408508.1:c.1040_1046delACCTGGAinsG NP_001395437.1:p.Tyr347_Tyr647del inframe indel NM_001408509.1:c.1037_1043delACCTGGAinsG NP_001395438.1:p.Tyr346_Tyr646del inframe indel NM_001408510.1:c.998_1004delACCTGGAinsG NP_001395439.1:p.Tyr333_Tyr633del inframe indel NM_001408511.1:c.995_1001delACCTGGAinsG NP_001395440.1:p.Tyr332_Tyr632del inframe indel NM_001408512.1:c.875_881delACCTGGAinsG NP_001395441.1:p.Tyr292_Tyr592del inframe indel NM_001408513.1:c.848_854delACCTGGAinsG NP_001395442.1:p.Tyr283_Tyr583del inframe indel NM_007294.3:c.4688_4694delACCTGGAinsG NP_009225.1:p.Tyr1563_Tyr1863del inframe indel NM_007297.4:c.4547_4553delinsG NP_009228.2:p.Tyr1516_Glu1518delinsTer nonsense NM_007298.4:c.1376_1382delACCTGGAinsG NP_009229.2:p.Tyr459_Tyr759del inframe indel NM_007299.4:c.1376_1382delinsG NP_009230.2:p.Tyr459_Glu461delinsTer nonsense NM_007300.4:c.4751_4757delinsG NP_009231.2:p.Tyr1584_Glu1586delinsTer nonsense NM_007304.2:c.1376_1382delACCTGGAinsG NP_009235.2:p.Tyr459_Tyr759del inframe indel NR_027676.2:n.4865_4871delinsG non-coding transcript variant NC_000017.11:g.43071220_43071226delinsC NC_000017.10:g.41223237_41223243delinsC NG_005905.2:g.146758_146764delinsG LRG_292:g.146758_146764delinsG LRG_292t1:c.4688_4694delinsG - Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000017.11:43071219:TCCAGGT:C
-
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 |
13041 | 14847 | |
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
|
Apr 12, 2021 | RCV000584059.11 |
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. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Apr 12, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000688514.2
First in ClinVar: Feb 19, 2018 Last updated: Jan 08, 2022 |
Comment:
This variant replaces 7 nucleotides in exon 15 of the BRCA1 gene with a c.G nucleotide, creating a premature translation stop signal. This variant is … (more)
This variant replaces 7 nucleotides in exon 15 of the BRCA1 gene with a c.G nucleotide, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in an individual affected with hereditary breast and/or ovarian cancer (PMID: 29907814). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
|
Comment:
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. |
Comment:
This variant replaces 7 nucleotides in exon 15 of the BRCA1 gene with a c.G nucleotide, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in an individual affected with hereditary breast and/or ovarian cancer (PMID: 29907814). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Citations for germline classification of this variant
Help| There 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 rs1555581087 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Nov 03, 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.