ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2907T>C (p.Asn969=) (rs1555572999)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000636203 SCV000757635 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-10-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781171 SCV000919050 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing Variant summary: BRIP1 c.2907T>C (p.Asn969Asn) alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools (ALAMUT) predict no significant impact on normal splicing. Another in-silico tool for assessing the pathogenicity of synonymous variants, namely TraP (Transcript-inferred Pathogenicity, Gelfman_2017) predicts this variant to be benign. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 250176 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2907T>C in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

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