ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7773T>C (p.His2591=)

dbSNP: rs754977173
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000775351 SCV000909634 likely benign Hereditary cancer-predisposing syndrome 2017-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004561768 SCV001677985 likely benign Familial adenomatous polyposis 1 2022-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000775351 SCV002668968 likely benign Hereditary cancer-predisposing syndrome 2021-08-05 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.
Myriad Genetics, Inc. RCV004561768 SCV005082620 benign Familial adenomatous polyposis 1 2024-04-10 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.
Molecular Diagnostics Laboratory, Catalan Institute of Oncology RCV000775351 SCV005901994 likely benign Hereditary cancer-predisposing syndrome 2024-09-03 criteria provided, single submitter clinical testing BP4, BP7 c.7773T>C, located in exon 16 of the APC gene, is predicted to result in no splicing alteration (according to SpliceAI) and no amino acid change, p.(His2591=) (BP4, BP7). This variant is found in 1/267379 alleles at a frequency of 0.0037% in the gnomAD v2.1.1 database, non-cancer dataset. In addition, the variant has been identified in the ClinVar database (3x, likely benign, 1x benign), but it is not present in the LOVD database. To our knowledge, neither relevant clinical data nor well-stablished functional studies have been reported for this variant. Based on currently available information, the variant c.7773T>C should be considered a likely benign variant.

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