ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9018C>A (p.Tyr3006Ter) (rs80359154)

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Total submissions: 7
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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) RCV000114031 SCV000301335 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 RCV000131053 SCV000185983 pathogenic Hereditary cancer-predisposing syndrome 2014-03-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: 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 RCV000114031 SCV000328025 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Genologica Medica RCV000114031 SCV000577973 pathogenic Breast-ovarian cancer, familial 2 2017-01-01 criteria provided, single submitter clinical testing
Color RCV000131053 SCV000684016 pathogenic Hereditary cancer-predisposing syndrome 2017-03-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587546 SCV000695200 pathogenic Hereditary breast and ovarian cancer syndrome 2017-05-15 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9018C>A (p.Tyr3006X) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.9196C>T, p.Gln3066X; c.9235delG, p.Val3079fsX4; c.9253dupA, p.Thr3085fsX26). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 121016 control chromosomes and has been reported in numerous affected individuals in the literature. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000114031 SCV000147514 pathogenic Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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