Submissions for variant NM_000038.6(APC):c.117T>C (p.Thr39=)

gnomAD frequency: 0.00001  dbSNP: rs751827696

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000166721	SCV000217532	likely benign	Hereditary cancer-predisposing syndrome	2014-11-13	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.
Sema4, Sema4	RCV000166721	SCV002528519	likely benign	Hereditary cancer-predisposing syndrome	2021-05-28	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV003995527	SCV004841695	likely benign	Classic or attenuated familial adenomatous polyposis	2023-12-13	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004562372	SCV004933156	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.