ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1053A>G (p.Pro351=) (rs544977115)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165134 SCV000215844 likely benign Hereditary cancer-predisposing syndrome 2014-08-11 criteria provided, single submitter clinical testing
Color RCV000165134 SCV000906646 likely benign Hereditary cancer-predisposing syndrome 2017-10-28 criteria provided, single submitter clinical testing
GeneDx RCV000427710 SCV000522767 likely benign not specified 2017-08-31 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 RCV000427710 SCV000919061 likely benign not specified 2018-08-27 criteria provided, single submitter clinical testing Variant summary: BRIP1 c.1053A>G alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 3.2e-05 in 277060 control chromosomes, predominantly at a frequency of 0.00029 within the African subpopulation in the gnomAD database. The frequency in the African cohort is 5 times higher than the maximum expected allele frequency for a pathogenic BRIP1 variant, 6.3e-05. This information indicates the variant could be in the benign spectrum. To our knowledge, no occurrence of c.1053A>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Three ClinVar submissions from other clinical diagnostic laboratories (evaluation after 2014) cites the variant as "likely benign." Based on the evidence outlined above, the variant was classified as likely benign.
Invitae RCV000472887 SCV000558591 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-11-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000427710 SCV000600888 likely benign not specified 2017-02-16 criteria provided, single submitter clinical testing

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