ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1474-7C>A (rs886041146)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000400309 SCV000329157 uncertain significance not provided 2016-06-22 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.1474-7C>A or IVS10-7C>A and consists of a C>A nucleotide substitution at the -7 position of intron 10 of the BRIP1 gene. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRIP1 c.1474-7C>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The cytosine (C) nucleotide that is altered is not conserved. In silico splicing models are inconsistent regarding the effect this variant may have on gene splicing. Based on currently available evidence, it is unclear whether BRIP1 c.1474-7C>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000636092 SCV000757524 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2017-11-08 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the BRIP1 gene. It does not directly change the encoded amino acid sequence of the BRIP1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 279709). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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