ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5159C>A (p.Ser1720Ter) (rs80358740)

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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) RCV000238884 SCV000300835 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 RCV000131919 SCV000186974 pathogenic Hereditary cancer-predisposing syndrome 2014-07-29 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)
Invitae RCV000459811 SCV000549735 pathogenic Hereditary breast and ovarian cancer syndrome 2018-09-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1720 (p.Ser1720*) of the BRCA2 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000459811 SCV000591946 pathogenic Hereditary breast and ovarian cancer syndrome 2015-05-19 criteria provided, single submitter clinical testing
Color RCV000131919 SCV000683677 pathogenic Hereditary cancer-predisposing syndrome 2017-05-22 criteria provided, single submitter clinical testing
GeneDx RCV000657663 SCV000779412 pathogenic not provided 2018-10-17 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.5159C>A at the cDNA level and p.Ser1720Ter (S1720X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 5387C>A. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in at least one individual with advanced prostate cancer (Mandelker 2017) and is considered pathogenic.
Counsyl RCV000238884 SCV000786214 likely pathogenic Breast-ovarian cancer, familial 2 2018-03-23 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000238884 SCV000297533 pathogenic Breast-ovarian cancer, familial 2 2009-10-27 no assertion criteria provided clinical testing

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