ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.463C>T (p.Gln155Ter) (rs587781786)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130041 SCV000184867 pathogenic Hereditary cancer-predisposing syndrome 2015-05-29 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)
GeneDx RCV000213568 SCV000279964 pathogenic not provided 2016-03-07 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.463C>T at the cDNA level and p.Gln155Ter (Q155X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAA>TAA), 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 pathogenic.
Invitae RCV000699984 SCV000828718 pathogenic Familial cancer of breast; Fanconi anemia, complementation group J 2018-04-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln155*) 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 not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 141487). 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.

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