ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2377C>T (p.Gln793Ter) (rs587782574)

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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 RCV000131801 SCV000186852 pathogenic Hereditary cancer-predisposing syndrome 2016-05-24 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000519624 SCV000617480 pathogenic not provided 2017-07-27 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.2377C>T at the cDNA level and p.Gln793Ter (Q793X) at the proteinlevel. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon(CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant was reported in 1/2079 individuals who underwent hereditary cancer multigenepanel testing and is considered pathogenic (LaDuca 2014).
Counsyl RCV000663018 SCV000786036 likely pathogenic Fanconi anemia, complementation group J; Neoplasm of ovary 2018-02-09 criteria provided, single submitter clinical testing
Invitae RCV000703456 SCV000832355 pathogenic Familial cancer of breast; Fanconi anemia, complementation group J 2018-03-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln793*) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs587782574, ExAC 0.01%). This variant has been reported in an individual who underwent genetic testing for hereditary cancer (PMID: 24763289). ClinVar contains an entry for this variant (Variation ID: 142595). 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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