chr9:21974757:C>G Detail (hg38) (CDKN2A)

Information

Genome

Assembly Position
hg19 chr9:21,974,756-21,974,756 View the variant detail on this assembly version.
hg38 chr9:21,974,757-21,974,757

HGVS

Type Transcript Protein
RefSeq NM_000077.4:c.71G>C NP_000068.1:p.Arg24Pro
NM_001195132.1:c.71G>C NP_001182061.1:p.Arg24Pro
NM_058195.3:c.194-3549G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 600160 OMIM
HGNC 1787 HGNC
Ensembl ENSG00000147889 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM4951074 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 1998-08-01 no assertion criteria provided Melanoma, cutaneous malignant, susceptibility to, 2 germline Detail
Pathogenic 2022-11-21 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2022-10-03 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic Likely pathogenic 2023-04-20 criteria provided, multiple submitters, no conflicts Melanoma-pancreatic cancer syndrome germline unknown Detail
Pathogenic 2024-01-21 criteria provided, single submitter familial melanoma germline Detail
Pathogenic 2018-10-31 criteria provided, single submitter melanoma and neural system tumor syndrome,Melanoma-pancreatic cancer syndrome,Melanoma, cutaneous malignant, susceptibility to, 2 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter melanoma and neural system tumor syndrome,Melanoma-pancreatic cancer syndrome,Melanoma, cutaneous malignant, susceptibility to, 2 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter melanoma and neural system tumor syndrome,Melanoma-pancreatic cancer syndrome,Melanoma, cutaneous malignant, susceptibility to, 2 unknown Detail
Pathogenic 2023-01-13 criteria provided, single submitter melanoma and neural system tumor syndrome unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.121 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) AND Melanoma, cutaneous malignant, susceptibility to, 2 ClinVar Detail
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) AND not provided ClinVar Detail
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) AND Melanoma-pancreatic cancer syndrome ClinVar Detail
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) AND Familial melanoma ClinVar Detail
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) AND multiple conditions ClinVar Detail
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) AND multiple conditions ClinVar Detail
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) AND multiple conditions ClinVar Detail
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) AND Melanoma and neural system tumor syndrome ClinVar Detail
NA 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
rs104894097 dbSNP
Genome
hg38
Position
chr9:21,974,757-21,974,757
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8212
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
111388
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.693288325492872E-5
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