ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8250G>A (p.Glu2750=)

gnomAD frequency: 0.00003  dbSNP: rs767530768
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166552 SCV000217354 likely benign Hereditary cancer-predisposing syndrome 2014-11-03 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 RCV004562369 SCV000261011 likely benign Familial adenomatous polyposis 1 2024-11-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000166552 SCV000681916 likely benign Hereditary cancer-predisposing syndrome 2016-03-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995512 SCV004835785 likely benign Classic or attenuated familial adenomatous polyposis 2023-12-07 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004562369 SCV005085854 benign Familial adenomatous polyposis 1 2024-04-15 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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