ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5217_5224del (p.Tyr1739_Asn1742delinsTer) (rs80359497)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113402 SCV000300849 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 RCV000044614 SCV000072627 pathogenic Hereditary breast and ovarian cancer syndrome 2018-03-20 criteria provided, single submitter clinical testing This sequence change deletes 8 nucleotides from exon 11 of the BRCA2 mRNA (c.5217_5224delTTTAAGTA), causing a frameshift at codon 1739. This creates a premature translational stop signal (p.Tyr1739*) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic. This particular variant has been reported in a family with a history of early-onset breast cancer (PMID: 11802209). It is also known as 5445del8 in the literature. Several other deletions in this region (c.5217_5220del, c.5217_5221del, c.5217_5223del) that give rise to the same protein effect observed here (p.Tyr1739*) have been reported in individuals and families with breast cancer, ovarian cancer, and prostate cancer (PMID: 26681312, 12872265, 9150154, 10717622, 26350514). For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113402 SCV000327178 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113402 SCV000146572 pathogenic Breast-ovarian cancer, familial 2 1997-11-13 no assertion criteria provided clinical testing

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