ClinVar Miner

Submissions for variant NM_000038.6(APC):c.138A>G (p.Glu46=)

gnomAD frequency: 0.00002  dbSNP: rs1429803547
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001011330 SCV001171638 likely benign Hereditary cancer-predisposing syndrome 2018-12-20 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 RCV002551742 SCV002193792 uncertain significance Familial adenomatous polyposis 1 2021-11-18 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 819087). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change affects codon 46 of the APC mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the APC protein.
All of Us Research Program, National Institutes of Health RCV004004499 SCV004841696 likely benign Classic or attenuated familial adenomatous polyposis 2023-04-27 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002551742 SCV004931207 benign Familial adenomatous polyposis 1 2024-02-22 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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