Submissions for variant NM_000075.4(CDK4):c.486C>G (p.Ala162=)

gnomAD frequency: 0.00001  dbSNP: rs1595110441

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV001023172	SCV001185006	likely benign	Hereditary cancer-predisposing syndrome	2018-07-13	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001482391	SCV001686760	likely benign	Familial melanoma	2024-07-08	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003478650	SCV004221625	likely benign	not provided	2022-12-13	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004789354	SCV005407046	benign	Melanoma, cutaneous malignant, susceptibility to, 3	2024-09-25	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.