ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2258-3A>G

dbSNP: rs786203561
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166925 SCV000217744 likely benign Hereditary cancer-predisposing syndrome 2021-06-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000472114 SCV000547293 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2022-07-03 criteria provided, single submitter clinical testing This sequence change falls in intron 15 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. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 187218). 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 may disrupt the consensus splice site. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506334 SCV000600900 uncertain significance not specified 2017-03-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000166925 SCV000689328 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV003474883 SCV004211359 uncertain significance Familial cancer of breast 2022-01-23 criteria provided, single submitter clinical testing

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