ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.10127C>G (p.Ser3376Ter) (rs1555290049)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000775705 SCV000910120 likely benign Hereditary cancer-predisposing syndrome 2017-05-24 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587368 SCV000694496 uncertain significance not provided 2017-04-14 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.10127C>G (p.Ser3376X) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. However, this variant is located in the last exon in the gene, and other truncating variants located in this exon upstream of this variant have been classified as VUS or benign by our lab (p.Glu3316fsX2, VUS; p.Lys3326X, benign; p.Glu3342X, VUS; p.Ser3366fsX4, benign). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 121162 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. Taken together, the functional significance of this truncating variant located in the last exon is unknown, therefore it has been classified as a VUS until additional evidence becomes available.
Invitae RCV000528012 SCV000635132 likely benign Hereditary breast and ovarian cancer syndrome 2017-04-18 criteria provided, single submitter clinical testing

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