ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2097+6G>A

dbSNP: rs1603328382
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000823265 SCV000964116 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2022-09-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 665059). 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 14 of the BRIP1 gene. It does not directly change the encoded amino acid sequence of the BRIP1 protein. It affects a nucleotide within the consensus splice site.
Color Diagnostics, LLC DBA Color Health RCV001184846 SCV001350930 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-09 criteria provided, single submitter clinical testing

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