ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7575del (p.Ala2526fs) (rs869320797)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000509996 SCV000607836 pathogenic Hereditary cancer-predisposing syndrome 2015-11-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000211007 SCV000301179 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000539513 SCV000635586 pathogenic Hereditary breast and ovarian cancer syndrome 2017-02-15 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 15 of the BRCA2 mRNA (c.7575delA), causing a frameshift at codon 2526. This creates a premature translational stop signal (p.Ala2526Glnfs*2) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant has been reported in an individual with breast cancer in the Leiden Open-source Variation Database (PMID: 21520333). For these reasons, this variant has been classified as Pathogenic.
Michigan Medical Genetics Laboratories,University of Michigan RCV000211007 SCV000267809 pathogenic Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing

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