ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5134G>T (p.Gly1712Ter) (rs876661056)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566954 SCV000666106 pathogenic Hereditary cancer-predisposing syndrome 2016-10-24 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)
Color RCV000566954 SCV000683673 pathogenic Hereditary cancer-predisposing syndrome 2016-10-14 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000661386 SCV000783659 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000220651 SCV000279399 pathogenic not provided 2017-01-18 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.5134G>T at the cDNA level and p.Gly1712Ter (G1712X) at the protein level. The substitution creates a nonsense variant, which changes a Glycine to a premature stop codon (GGA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also published as 5362G>T using alternate nomenclature, has been reported in association with hereditary breast and ovarian cancer (Tutt 2010) and is considered pathogenic.
Invitae RCV000462700 SCV000549563 pathogenic Hereditary breast and ovarian cancer syndrome 2018-10-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1712 (p.Gly1712*) 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, truncating variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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