ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1140T>C (p.Ser380=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004952567 SCV005553002 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-10 criteria provided, single submitter clinical testing The c.1140T>C variant (also known as p.S380S) is located in coding exon 7 of the BRIP1 gene. This variant results from a T to C substitution at nucleotide position 1140. This nucleotide substitution does not change the amino acid at codon 380. However, this change occurs in the last base pair of coding exon 7, which makes it likely to have some effect on normal mRNA splicing. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the available evidence, the clinical significance of this variant remains unclear.

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