chr9:21971057:C>G Detail (hg19) (CDKN2A)

Information

Genome

Assembly Position
hg19 chr9:21,971,057-21,971,057
hg38 chr9:21,971,058-21,971,058 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001195132.1:c.301G>C NP_001182061.1:p.Gly101Arg
NM_058195.3:c.344G>C NP_478102.2:p.Arg115Pro
NM_000077.4:c.301G>C NP_000068.1:p.Gly101Arg
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 Uncertain significance
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-07-25 criteria provided, single submitter familial melanoma germline Detail
Uncertain significance 2023-09-01 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2016-01-25 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.284 melanoma Cutaneous phenotype and MC1R variants as modifying factors for the development o... BeFree 17397031 Detail
0.360 melanoma A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone famil... BeFree 10869234 Detail
0.121 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.145 Hereditary Melanoma NA CLINVAR Detail
0.360 Melanoma-pancreatic cancer syndrome NA CLINVAR Detail
0.360 melanoma Cutaneous phenotype and MC1R variants as modifying factors for the development o... BeFree 17397031 Detail
0.360 melanoma High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene i... BeFree 11807902 Detail
0.360 melanoma We investigated the frequency of the MC1R variants in the Italian region of Ligu... BeFree 15221796 Detail
0.007 Dysplastic Nevus Among patients with melanoma genetically tested, CDKN2A G101W mutation carriers ... BeFree 23711066 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000077.5(CDKN2A):c.301G>C (p.Gly101Arg) AND Familial melanoma ClinVar Detail
NM_000077.5(CDKN2A):c.301G>C (p.Gly101Arg) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000077.5(CDKN2A):c.301G>C (p.Gly101Arg) AND not provided ClinVar Detail
Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A... DisGeNET Detail
A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A... DisGeNET Detail
High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian maligna... DisGeNET Detail
We investigated the frequency of the MC1R variants in the Italian region of Liguria, where the occur... DisGeNET Detail
Among patients with melanoma genetically tested, CDKN2A G101W mutation carriers were more frequently... 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
rs104894094 dbSNP
Genome
hg19
Position
chr9:21,971,057-21,971,057
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8148
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)
110970
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.802288906911778E-5
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