ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7816_7819dup (p.Thr2607fs) (rs80359684)

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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) RCV000113830 SCV000301206 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113830 SCV000327743 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000536075 SCV000635611 pathogenic Hereditary breast and ovarian cancer syndrome 2018-09-07 criteria provided, single submitter clinical testing This sequence change inserts 4 nucleotides in exon 17 of the BRCA2 mRNA (c.7816_7819dupGACA), causing a frameshift at codon 2607. This creates a premature translational stop signal (p.Thr2607Argfs*12) 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 the literature in an individual with a personal or family history of breast and/or ovarian cancer (PMID: 24156927). For these reasons, this variant has been classified as Pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113830 SCV000147199 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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