ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2946G>A (p.Ser982=)

gnomAD frequency: 0.00003  dbSNP: rs377384463
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164453 SCV000215095 likely benign Hereditary cancer-predisposing syndrome 2014-06-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV004019964 SCV000259339 likely benign Familial adenomatous polyposis 1 2024-01-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000164453 SCV000681562 likely benign Hereditary cancer-predisposing syndrome 2016-11-22 criteria provided, single submitter clinical testing
GeneDx RCV000607633 SCV000731182 likely benign not specified 2017-03-27 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.
PreventionGenetics, part of Exact Sciences RCV000679053 SCV000805386 likely benign not provided 2017-09-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679053 SCV001133319 likely benign not provided 2018-10-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995343 SCV004839745 likely benign Classic or attenuated familial adenomatous polyposis 2024-02-05 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004019964 SCV004933871 benign Familial adenomatous polyposis 1 2024-03-15 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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