ClinVar Miner

Submissions for variant NM_000038.6(APC):c.759C>G (p.Gly253=)

gnomAD frequency: 0.00001  dbSNP: rs746850663
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165035 SCV000215732 likely benign Hereditary cancer-predisposing syndrome 2014-10-15 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 RCV000165035 SCV000687134 likely benign Hereditary cancer-predisposing syndrome 2017-08-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004562355 SCV001009328 likely benign Familial adenomatous polyposis 1 2025-02-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000165035 SCV002528226 likely benign Hereditary cancer-predisposing syndrome 2021-11-18 criteria provided, single submitter curation
GeneDx RCV002281064 SCV002569791 uncertain significance not provided 2022-08-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV004562355 SCV004015925 likely benign Familial adenomatous polyposis 1 2023-07-07 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004562355 SCV004931818 benign Familial adenomatous polyposis 1 2024-02-26 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 RCV002281064 SCV005623606 uncertain significance not provided 2024-06-12 criteria provided, single submitter clinical testing The APC c.759C>G (p.Gly253=) synonymous variant has not been reported in individuals with APC-related conditions in the published literature. The frequency of this variant in the general population, 0.000031 (4/128928 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. 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 RCV003965208 SCV004782146 likely benign APC-related disorder 2020-04-06 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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