ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.133G>T (p.Glu45Ter) (rs587781292)

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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 RCV000128992 SCV000172885 pathogenic Hereditary cancer-predisposing syndrome 2017-11-03 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 RCV000662599 SCV000785234 pathogenic Fanconi anemia, complementation group J; Neoplasm of ovary 2017-06-21 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000196974 SCV000893466 pathogenic Familial cancer of breast; Fanconi anemia, complementation group J 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000482088 SCV000568502 pathogenic not provided 2017-09-28 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.133G>T at the cDNA level and p.Glu45Ter (E45X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in an individual undergoing multi-gene hereditary cancer panel testing, in a woman with high grade serous ovarian cancer and in a woman with early onset breast cancer (Laduca 2014, Ramus 2015). We consider this variant to be pathogenic.
Invitae RCV000196974 SCV000253957 pathogenic Familial cancer of breast; Fanconi anemia, complementation group J 2018-07-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu45*) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs587781292, ExAC 0.001%). This variant has been reported in the literature in an individual affected with hereditary cancer (PMID: 24763289). ClinVar contains an entry for this variant (Variation ID: 140808). 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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