ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.306A>G (p.Thr102=)

gnomAD frequency: 0.00019  dbSNP: rs201202764
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163659 SCV000214229 likely benign Hereditary cancer-predisposing syndrome 2014-11-20 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 RCV000198407 SCV000252618 benign Familial melanoma 2025-02-02 criteria provided, single submitter clinical testing
Counsyl RCV000409850 SCV000488894 likely benign Melanoma, cutaneous malignant, susceptibility to, 3 2016-07-13 criteria provided, single submitter clinical testing
GeneDx RCV001721051 SCV000512540 likely benign not provided 2020-12-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000429012 SCV000601004 benign not specified 2019-09-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000429012 SCV001748808 benign not specified 2021-07-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163659 SCV002534251 benign Hereditary cancer-predisposing syndrome 2020-11-29 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000409850 SCV004020046 benign Melanoma, cutaneous malignant, susceptibility to, 3 2023-03-07 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.
PreventionGenetics, part of Exact Sciences RCV003954963 SCV004775992 likely benign CDK4-related disorder 2020-10-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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