ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.631+8T>C

dbSNP: rs1555281111
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588341 SCV000694960 uncertain significance not provided 2016-05-31 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.631+8T>C variant involves the alteration of a non-conserved intronic nucleotide. 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 is absent in 120458 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.
Labcorp Genetics (formerly Invitae), Labcorp RCV001086164 SCV001075020 likely benign Hereditary breast ovarian cancer syndrome 2019-05-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001181523 SCV001346682 likely benign Hereditary cancer-predisposing syndrome 2017-08-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588341 SCV004220496 uncertain significance not provided 2022-11-21 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect BRCA2 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.

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