ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5279C>G (p.Ser1760Ter) (rs80358751)

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Total submissions: 8
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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) RCV000113414 SCV000282403 pathogenic Breast-ovarian cancer, familial 2 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000044625 SCV000072638 pathogenic Hereditary breast and ovarian cancer syndrome 2018-04-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1760*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in one individual affected with breast cancer (PMID: 21895635). This variant is also known as 5507C>G in the literature. ClinVar contains an entry for this variant (Variation ID: 51833). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000131074 SCV000186004 pathogenic Hereditary cancer-predisposing syndrome 2017-08-11 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 RCV000113414 SCV000327191 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000113414 SCV000488204 pathogenic Breast-ovarian cancer, familial 2 2016-01-24 criteria provided, single submitter clinical testing
Color RCV000131074 SCV000683691 pathogenic Hereditary cancer-predisposing syndrome 2017-05-15 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113414 SCV000146587 pathogenic Breast-ovarian cancer, familial 2 2001-02-16 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000044625 SCV000587757 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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