ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1315C>T (p.Arg439Ter) (rs587780226)

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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 RCV000210150 SCV000274380 pathogenic Hereditary cancer-predisposing syndrome 2018-04-27 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)
Counsyl RCV000662793 SCV000785606 pathogenic Fanconi anemia, complementation group J; Neoplasm of ovary 2017-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000116121 SCV000150030 pathogenic not provided 2018-03-21 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRIP1 c.1315C>T at the cDNA level and p.Arg439Ter (R439X) at the protein level. The substitution creates a nonsense variant, which changes an Arginine to a premature stop codon (CGA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been observed in individuals with breast cancer, as well as in an individual with a seminoma (Frey 2015, Schrader 2015, Easton 2016, Frey 2017). Based on currently available evidence, we consider this variant to be pathogenic.
Invitae RCV000699261 SCV000827963 pathogenic Familial cancer of breast; Fanconi anemia, complementation group J 2018-12-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg439*) in the BRIP1 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 individuals affected with breast cancer (PMID: 26681312) and colon cancer (PMID: 26845104). ClinVar contains an entry for this variant (Variation ID: 128154). Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). For these reasons, this variant has been classified as Pathogenic.
University of Washington Department of Laboratory Medicine,University of Washington RCV000210150 SCV000266056 pathogenic Hereditary cancer-predisposing syndrome 2015-11-20 criteria provided, single submitter clinical testing

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