ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1628+11A>G (rs1064793459)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479715 SCV000566180 uncertain significance not provided 2016-10-07 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.1628+11A>G or IVS11+11A>G and consists of an A>G nucleotide substitution at the +11 position of intron 11 of the BRIP1 gene. Multiple in silico models predict this variant to create a new cryptic splice donor site and to possibly cause abnormal gene splicing; however, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRIP1 c.1628+11A>G 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 adenine (A) nucleotide that is altered is not conserved. Based on currently available information, it is unclear whether BRIP1 c.1628+11A>G is pathogenic or benign. We consider it to be a variant of uncertain significance.

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