chr12:57751647:C>T Detail (hg38) (CDK4)

Information

Genome

Assembly Position
hg19 chr12:58,145,430-58,145,430 View the variant detail on this assembly version.
hg38 chr12:57,751,647-57,751,647

HGVS

Type Transcript Protein
RefSeq NM_000075.3:c.71G>A NP_000066.1:p.Arg24His
Ensemble ENST00000257904.11:c.71G>A ENST00000257904.11:p.Arg24His
ENST00000312990.10:c.71G>A ENST00000312990.10:p.Arg24His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 123829 OMIM
HGNC 1773 HGNC
Ensembl ENSG00000135446 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM1989836 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2005-09-01 no assertion criteria provided Melanoma, cutaneous malignant, susceptibility to, 3 germline Detail
Likely pathogenic 2015-07-14 no assertion criteria provided melanoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant melanoma of skin somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided multiple myeloma somatic Detail
Pathogenic 2019-12-12 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2022-08-16 criteria provided, single submitter familial melanoma germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Melanoma, cutaneous malignant, susceptibility to, 3 NA CLINVAR Detail
0.061 melanoma We observed no disease-related mutations in CDKN2A, but one patient had a CDK4 R... BeFree 19238106 Detail
0.061 melanoma No disease-related CDKN2A germline mutations were identified in any of the melan... BeFree 17505264 Detail
<0.001 melanoma In this article, we report that CDK4 codon 24 is mutated from CGT to CAT (Arg24H... BeFree 15880589 Detail
0.360 melanoma Dominant activating mutations affecting codon 24 of the CDK4 gene (replacement o... BeFree 12904177 Detail
<0.001 melanoma In this article, we report that CDK4 codon 24 is mutated from CGT to CAT (Arg24H... BeFree 15880589 Detail
0.061 melanoma Dominant activating mutations affecting codon 24 of the CDK4 gene (replacement o... BeFree 12904177 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000075.4(CDK4):c.71G>A (p.Arg24His) AND Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar Detail
NM_000075.4(CDK4):c.71G>A (p.Arg24His) AND Melanoma ClinVar Detail
NM_000075.4(CDK4):c.71G>A (p.Arg24His) AND Lung adenocarcinoma ClinVar Detail
NM_000075.4(CDK4):c.71G>A (p.Arg24His) AND Malignant melanoma of skin ClinVar Detail
NM_000075.4(CDK4):c.71G>A (p.Arg24His) AND Multiple myeloma ClinVar Detail
NM_000075.4(CDK4):c.71G>A (p.Arg24His) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000075.4(CDK4):c.71G>A (p.Arg24His) AND Familial melanoma ClinVar Detail
NA DisGeNET Detail
We observed no disease-related mutations in CDKN2A, but one patient had a CDK4 R24H mutation and str... DisGeNET Detail
No disease-related CDKN2A germline mutations were identified in any of the melanoma patients analyse... DisGeNET Detail
In this article, we report that CDK4 codon 24 is mutated from CGT to CAT (Arg24His) in this unusuall... DisGeNET Detail
Dominant activating mutations affecting codon 24 of the CDK4 gene (replacement of Arg24 by Cys or Hi... DisGeNET Detail
In this article, we report that CDK4 codon 24 is mutated from CGT to CAT (Arg24His) in this unusuall... DisGeNET Detail
Dominant activating mutations affecting codon 24 of the CDK4 gene (replacement of Arg24 by Cys or Hi... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs104894340 dbSNP
Genome
hg38
Position
chr12:57,751,647-57,751,647
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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