ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2739T>C (p.His913=)

dbSNP: rs553363502
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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 RCV000165216 SCV000215930 likely benign Hereditary cancer-predisposing syndrome 2014-07-31 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.
GeneDx RCV000421189 SCV000515496 likely benign not specified 2016-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV000165216 SCV000681548 likely benign Hereditary cancer-predisposing syndrome 2016-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004562358 SCV000768469 likely benign Familial adenomatous polyposis 1 2024-11-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755821 SCV000883407 likely benign not provided 2017-12-03 criteria provided, single submitter clinical testing The APC c.2739T>C; p.His913His variant is not described in the medical literature or in gene-specific databases. The variant is listed in the ClinVar database (Variation ID: 185738), in the dbSNP variant database (rs553363502), and in the Genome Aggregation Database in 13/245854 alleles. This is a silent variant, the nucleotide at this position is not well conserved across species, and computational algorithms (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, Human Splicing Finder) predict no change to splicing. Considering available information, this variant is classified as likely benign.
All of Us Research Program, National Institutes of Health RCV003995406 SCV004839718 likely benign Classic or attenuated familial adenomatous polyposis 2024-08-13 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004562358 SCV004933837 benign Familial adenomatous polyposis 1 2024-03-15 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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