ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8418A>G (p.Ser2806=) (rs1555287636)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574167 SCV000661445 likely benign Hereditary cancer-predisposing syndrome 2017-07-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Integrated Genetics/Laboratory Corporation of America RCV000588203 SCV000695149 uncertain significance not provided 2016-02-19 criteria provided, single submitter clinical testing Variant summary: The c.8418A>G variant affects a non-conserved nucleotide, resulting in no amino acid change. One in-silico tool predicts damaging outcome for this variant. 5/5 programs in Alamut predict that this variant does not affect normal splicing. ESE finder predicts that this variant does not affect any ESE site. However, these predictions are not confirmed by experimental studies. This variant is not found in 121396 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant was classified as VUS-possibly benign.

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