ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1408dup (p.Glu470fs) (rs80359284)

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Total submissions: 6
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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) RCV000112918 SCV000300427 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000214396 SCV000278029 pathogenic Hereditary cancer-predisposing syndrome 2016-08-25 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112918 SCV000326551 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000476887 SCV000549802 pathogenic Hereditary breast and ovarian cancer syndrome 2016-10-06 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 10 of the BRCA2 mRNA (c.1408dupG), causing a frameshift at codon 470. This creates a premature translational stop signal (p.Glu470Glyfs*6) 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 a family undergoing testing for hereditary breast and/or ovarian cancer (PMID: 21203900). This variant is also known as c.1408insG in the literature. For these reasons, this variant has been classified as Pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000112918 SCV000145867 pathogenic Breast-ovarian cancer, familial 2 2001-10-29 no assertion criteria provided clinical testing
Gharavi Laboratory,Columbia University RCV000681954 SCV000809444 pathogenic not provided 2018-09-16 no assertion criteria provided research

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