ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2349A>T (p.Gly783=)

dbSNP: rs863224799
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000199823 SCV000255152 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2021-06-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 216787). This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 783 of the BRIP1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BRIP1 protein.
Ambry Genetics RCV002444811 SCV002734326 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-04 criteria provided, single submitter clinical testing The c.2349A>T variant (also known as p.G783G), located in coding exon 15 of the BRIP1 gene, results from an A to T substitution at nucleotide position 2349. This nucleotide substitution does not change the codon at 783. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Myriad Genetics, Inc. RCV004791323 SCV005406376 benign Familial cancer of breast 2024-09-04 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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