ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.786T>G (p.Pro262=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002412280 SCV002680982 likely benign Hereditary cancer-predisposing syndrome 2022-01-18 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.
CeGaT Center for Human Genetics Tuebingen RCV004721057 SCV005331226 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing CDK4: PM2:Supporting, BP4, BP7
Myriad Genetics, Inc. RCV004785635 SCV005405924 benign Melanoma, cutaneous malignant, susceptibility to, 3 2024-09-26 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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