ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7833A>G (p.Thr2611=) (rs1057520909)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443035 SCV000519560 likely benign not specified 2015-09-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000464212 SCV000562660 likely benign Familial adenomatous polyposis 1 2016-06-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000490953 SCV000579855 likely benign Hereditary cancer-predisposing syndrome 2016-01-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000490953 SCV000681889 likely benign Hereditary cancer-predisposing syndrome 2017-04-07 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588015 SCV000694127 uncertain significance not provided 2017-06-16 criteria provided, single submitter clinical testing Variant summary: The APC c.7833A>G (p.Thr2611Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. The variant of interest is located outside of any known functional domain or repeat. However, these predictions have yet to be confirmed by functional studies. The variant of interest has not been found in a large, broad control population, ExAC in 120844 control chromosomes. Multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.

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