ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.672A>G (p.Gly224=) (rs752356873)

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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 RCV000562768 SCV000661460 likely benign Hereditary cancer-predisposing syndrome 2015-05-01 criteria provided, single submitter clinical testing
Color RCV000562768 SCV000684300 likely benign Hereditary cancer-predisposing syndrome 2017-03-16 criteria provided, single submitter clinical testing
GeneDx RCV000615685 SCV000731000 likely benign not specified 2017-02-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000615685 SCV000917074 likely benign not specified 2018-03-23 criteria provided, single submitter clinical testing Variant summary: BRIP1 c.672A>G alters a non-conserved nucleotide resulting in a synonymous change. The observed variant frequency within African control individuals in the gnomAD database is approximately 2.08 fold above the estimated maximal expected allele frequency for a pathogenic variant in BRIP1 causing Hereditary Breast and Ovarian Cancer phenotype (6.3e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African origin. To our knowledge, no occurrence of c.672A>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Invitae RCV000466277 SCV000558587 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-10-16 criteria provided, single submitter clinical testing

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