ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4554del (p.Glu1518fs) (rs80359458)

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Total submissions: 9
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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) RCV000113319 SCV000300765 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 RCV000113319 SCV000327053 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000113319 SCV000677679 likely pathogenic Breast-ovarian cancer, familial 2 2016-11-22 criteria provided, single submitter clinical testing
Color RCV000581479 SCV000688881 pathogenic Hereditary cancer-predisposing syndrome 2017-08-07 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000496545 SCV000694779 pathogenic Hereditary breast and ovarian cancer syndrome 2016-03-09 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.4554delA variant results in a premature termination codon at codon 1542, predicted to cause a truncated or absent BRCA2 protein due to non-sense mediated decay, which are commonly known mechanisms for HBOC. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. p.Tyr3308X, p.Ser3147fs). Mutation Taster predicts a damaging outcome for this variant. This variant was not found in 120318 control chromosomes, but was identified in multiple breast cancer patients in the literature. In addition, several clinical laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant was classified as pathogenic.
Ambry Genetics RCV000581479 SCV001184455 pathogenic Hereditary cancer-predisposing syndrome 2019-04-17 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Breast Cancer Information Core (BIC) (BRCA2) RCV000113319 SCV000146446 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113319 SCV000297527 pathogenic Breast-ovarian cancer, familial 2 2010-05-27 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496545 SCV000587716 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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