ClinVar Miner

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

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000113319 SCV000146446 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Color RCV000581479 SCV000688881 pathogenic Hereditary cancer-predisposing syndrome 2017-08-07 criteria provided, single submitter clinical testing
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
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.
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.
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
Sharing Clinical Reports Project (SCRP) RCV000113319 SCV000297527 pathogenic Breast-ovarian cancer, familial 2 2010-05-27 no assertion criteria provided clinical testing

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