ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.342A>G (p.Pro114=) (rs756764576)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780053 SCV000917073 uncertain significance not specified 2017-10-06 criteria provided, single submitter clinical testing Variant summary: The BRIP1 c.342A>G (p.Pro114Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/215426 control chromosomes at a frequency of 0.0000046, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRIP1 variant (0.0000625). The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.

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