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NM_000075.4(CDK4):c.224T>G (p.Met75Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 29, 2018)
Last evaluated:
Jun 26, 2018
Accession:
VCV000565735.1
Variation ID:
565735
Description:
single nucleotide variant
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NM_000075.4(CDK4):c.224T>G (p.Met75Arg)

Allele ID
568159
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q14.1
Genomic location
12: 57751337 (GRCh38) GRCh38 UCSC
12: 58145120 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_490:g.6045T>G
NC_000012.11:g.58145120A>C
NC_000012.12:g.57751337A>C
... more HGVS
Protein change
M75R
Other names
-
Canonical SPDI
NC_000012.12:57751336:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs748983604
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 26, 2018 RCV000685371.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CDK4 No evidence available No evidence available GRCh38
GRCh37
341 563

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 26, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cutaneous melanoma
Allele origin: germline
Invitae
Accession: SCV000812849.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces methionine with arginine at codon 75 of the CDK4 protein (p.Met75Arg). The methionine residue is moderately conserved and there is a … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs748983604...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021