Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000075.4(CDK4):c.461T>C (p.Val154Ala)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 8, 2020
Accession:
VCV000485490.4
Variation ID:
485490
Description:
single nucleotide variant
Help

NM_000075.4(CDK4):c.461T>C (p.Val154Ala)

Allele ID
476463
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q14.1
Genomic location
12: 57750984 (GRCh38) GRCh38 UCSC
12: 58144767 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_490:g.6398T>C
NC_000012.11:g.58144767A>G
NC_000012.12:g.57750984A>G
... more HGVS
Protein change
V154A
Other names
-
Canonical SPDI
NC_000012.12:57750983:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA385546384
dbSNP: rs1555201304
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 29, 2018 RCV000571965.1
Uncertain significance 1 criteria provided, single submitter Apr 8, 2020 RCV001343721.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 29, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000673194.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.V154A variant (also known as c.461T>C), located in coding exon 3 of the CDK4 gene, results from a T to C substitution at nucleotide … (more)
Uncertain significance
(Apr 08, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary melanoma
Allele origin: germline
Invitae
Accession: SCV001537725.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces valine with alanine at codon 154 of the CDK4 protein (p.Val154Ala). The valine residue is highly conserved and there is a … (more)

Functional evidence

Help
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

Help
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1555201304...

Help
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