ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.-2C>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002435624 SCV002747928 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-29 criteria provided, single submitter clinical testing The c.-2C>G variant is located in the 5' untranslated region (5’ UTR) of the BRIP1 gene. This variant results from a C to G substitution 2 bases upstream from the first translated codon. This nucleotide position is poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV004774694 SCV005387472 uncertain significance not provided 2023-12-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nucleotide is not conserved across species and the substitution has no predicted effect on splicing; Has not been previously published as pathogenic or benign to our knowledge; Alters the Kozak sequence, which plays a major role in the initiation of translation

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