ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2244C>G (p.Tyr748Ter) (rs1257401983)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000576013 SCV000661520 pathogenic Hereditary cancer-predisposing syndrome 2017-05-16 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)
GeneDx RCV000657691 SCV000779440 likely pathogenic not provided 2016-07-28 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.2244C>G at the cDNA level and p.Tyr748Ter (Y748X) at the protein level. The substitution creates a nonsense variant, which changes a Tyrosine to a premature stop codon (TAC>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered likely pathogenic.
Invitae RCV000694900 SCV000823366 pathogenic Familial cancer of breast; Fanconi anemia, complementation group J 2018-03-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr748*) 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 an individual affected with primary peritoneal serous carcinoma (PMID: 28961279). ClinVar contains an entry for this variant (Variation ID: 430591). 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.
Yang An-Suei Laboratory,Academia Sinica RCV000504601 SCV000583424 pathogenic Neoplasm of the breast criteria provided, single submitter clinical testing

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