ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6462_6463TC[2] (p.Ser2156fs) (rs80359596)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571815 SCV000666164 pathogenic Hereditary cancer-predisposing syndrome 2017-06-27 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 RCV000241080 SCV000327436 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000496329 SCV000592054 pathogenic Hereditary breast and ovarian cancer syndrome 2012-11-15 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000241080 SCV000301055 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735586 SCV000863724 pathogenic Breast and/or ovarian cancer 2012-07-06 no assertion criteria provided clinical testing
GeneKor MSA RCV000238933 SCV000296827 pathogenic Familial cancer of breast 2017-11-01 criteria provided, single submitter clinical testing
Invitae RCV000496329 SCV000759003 pathogenic Hereditary breast and ovarian cancer syndrome 2017-12-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2156Asnfs*11) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs748536459, ExAC 0.002%). This variant has been reported in an individual in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 252446). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496329 SCV000587850 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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