ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8429A>G (p.Asn2810Ser)

gnomAD frequency: 0.00002  dbSNP: rs758044862
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165965 SCV000216722 likely benign Hereditary cancer-predisposing syndrome 2021-12-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV003534449 SCV000282844 benign Familial adenomatous polyposis 1 2023-11-25 criteria provided, single submitter clinical testing
GeneDx RCV000236023 SCV000292469 uncertain significance not provided 2022-12-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with early onset colorectal cancer (DeRycke et al., 2017); This variant is associated with the following publications: (PMID: 30122538, 28944238, 29245953, 18199528)
Counsyl RCV000228193 SCV000784906 uncertain significance Familial adenomatous polyposis 1 2017-02-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000165965 SCV000911015 likely benign Hereditary cancer-predisposing syndrome 2017-01-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000165965 SCV002527002 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-25 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000228193 SCV004017858 uncertain significance Familial adenomatous polyposis 1 2023-02-16 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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