ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1741C>T (p.Arg581Ter) (rs780020495)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503203 SCV000593777 pathogenic Breast cancer, early-onset 2016-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568917 SCV000661553 pathogenic Hereditary cancer-predisposing syndrome 2018-02-21 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 RCV000657756 SCV000779508 likely pathogenic not provided 2018-03-01 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.1741C>T at the cDNA level and p.Arg581Ter (R581X) 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 reported in individuals with breast and colorectal cancer (Tung 2015, Sorscher 2016, Weber-Lassalle 2018) and is considered likely pathogenic.
Color RCV000568917 SCV000904990 pathogenic Hereditary cancer-predisposing syndrome 2015-02-23 criteria provided, single submitter clinical testing
Invitae RCV000804787 SCV000944714 pathogenic Familial cancer of breast; Fanconi anemia, complementation group J 2018-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg581*) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs780020495, ExAC 0.01%). This variant has been observed in several individuals affected with breast and colon cancer (PMID: 25186627, 27462233, 29368626). ClinVar contains an entry for this variant (Variation ID: 434539). 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.
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785424 SCV000923996 pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research

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