ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6453A>C (p.Thr2151=)

gnomAD frequency: 0.00001  dbSNP: rs1057524298
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721462 SCV000535115 likely benign not provided 2018-12-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766447 SCV000562678 likely benign Familial adenomatous polyposis 1 2025-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562381 SCV000667313 likely benign Hereditary cancer-predisposing syndrome 2015-06-01 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.
Color Diagnostics, LLC DBA Color Health RCV000562381 SCV000681799 likely benign Hereditary cancer-predisposing syndrome 2016-09-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003387845 SCV004099580 likely benign not specified 2023-09-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000566 SCV004840352 likely benign Classic or attenuated familial adenomatous polyposis 2023-12-13 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003766447 SCV005085588 benign Familial adenomatous polyposis 1 2024-04-04 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001721462 SCV005625622 uncertain significance not provided 2024-06-26 criteria provided, single submitter clinical testing The APC c.6453A>C (p.Thr2151=) synonymous variant has not been reported in individuals with APC-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect APC mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.
PreventionGenetics, part of Exact Sciences RCV003942456 SCV004762247 likely benign APC-related disorder 2022-10-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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