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NM_000075.4(CDK4):c.343G>A (p.Glu115Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 3, 2020
Accession:
VCV000483298.6
Variation ID:
483298
Description:
single nucleotide variant
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NM_000075.4(CDK4):c.343G>A (p.Glu115Lys)

Allele ID
477085
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q14.1
Genomic location
12: 57751218 (GRCh38) GRCh38 UCSC
12: 58145001 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.58145001C>T
NC_000012.12:g.57751218C>T
NG_007484.2:g.6164G>A
... more HGVS
Protein change
E115K
Other names
-
Canonical SPDI
NC_000012.12:57751217:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Exome Aggregation Consortium (ExAC) 0.00004
Links
ClinGen: CA6657841
dbSNP: rs772938517
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 14, 2018 RCV000563705.1
Uncertain significance 1 criteria provided, single submitter Oct 3, 2020 RCV000821497.3
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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 14, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000669128.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.E115K variant (also known as c.343G>A), located in coding exon 2 of the CDK4 gene, results from a G to A substitution at nucleotide … (more)
Uncertain significance
(Oct 03, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary melanoma
Allele origin: germline
Invitae
Accession: SCV000962255.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glutamic acid with lysine at codon 115 of the CDK4 protein (p.Glu115Lys). The glutamic acid residue is moderately conserved and there … (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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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 rs772938517...

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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