ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.205+5G>T

dbSNP: rs2078948368
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290629 SCV002579418 likely pathogenic Familial cancer of breast 2021-08-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002561022 SCV003442506 likely pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2023-07-14 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with Fanconi anemia complementation group J (PMID: 16116423). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the c.205+5G>A nucleotide in the BRIP1 gene. Other variant(s) that disrupt this nucleotide have been determined to be pathogenic (Invitae). This suggests that this nucleotide is clinically significant, and that variants that disrupt this position are likely to be disease-causing. 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. Studies have shown that this variant alters BRIP1 gene expression (PMID: 16116423). ClinVar contains an entry for this variant (Variation ID: 929517). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 3 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.
Leiden Open Variation Database RCV001194698 SCV001364452 pathogenic Fanconi anemia complementation group J 2011-02-07 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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