ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5270_5286del (p.Tyr1757fs) (rs80359502)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575945 SCV000661351 pathogenic Hereditary cancer-predisposing syndrome 2016-08-31 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)
Breast Cancer Information Core (BIC) (BRCA2) RCV000113412 SCV000146585 pathogenic Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113412 SCV000327190 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000113412 SCV000488694 likely pathogenic Breast-ovarian cancer, familial 2 2016-05-25 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113412 SCV000300856 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 RCV000471757 SCV000549767 pathogenic Hereditary breast and ovarian cancer syndrome 2016-09-20 criteria provided, single submitter clinical testing This sequence change deletes 17 nucleotides from exon 11 of the BRCA2 mRNA (c.5270_5286del), causing a frameshift at codon 1757. This creates a premature translational stop signal (p.Tyr1757Serfs*5) 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 particular variant has been reported in an individual in the Breast Cancer Information Core database (PMID: 10923033). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656607 SCV000778683 pathogenic not provided 2016-12-06 no assertion criteria provided clinical testing

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