ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.771G>A (p.Val257=)

gnomAD frequency: 0.00014  dbSNP: rs377612647
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000204552 SCV000259230 likely benign Familial melanoma 2025-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575760 SCV000669093 likely benign Hereditary cancer-predisposing syndrome 2016-02-12 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284609 SCV001470482 benign not specified 2020-03-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003390948 SCV004133591 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing CDK4: BP4, BP7
Myriad Genetics, Inc. RCV004786538 SCV005404508 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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