chr9:21974860:C>G Detail (hg19) (CDKN2A, LOC130001603)

Information

Genome

Assembly Position
hg19 chr9:21,974,860-21,974,860
hg38 chr9:21,974,861-21,974,861 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001195132.1:c.-34G>C
NM_058195.3:c.194-3653G>C
Ensemble ENST00000494262.5:c.-3-3653G>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 Conflicting classifications of pathogenicity
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 2017-04-03 criteria provided, single submitter not specified germline Detail
Uncertain significance 2016-11-09 criteria provided, single submitter Melanoma-pancreatic cancer syndrome unknown Detail
Uncertain significance 2022-12-06 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Likely benign 2024-01-24 criteria provided, single submitter familial melanoma germline Detail
Likely benign 2019-09-12 criteria provided, single submitter not provided germline Detail
Likely benign 2021-02-22 criteria provided, single submitter CDKN2A-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder) Sequence analysis demonstrated a known deleterious mutation in CDKN2A (G-34T) an... BeFree 18025365 Detail
0.005 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder) Sequence analysis demonstrated a known deleterious mutation in CDKN2A (G-34T) an... BeFree 18025365 Detail
0.121 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.145 Hereditary Melanoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_058195.4(CDKN2A):c.194-3653G>C AND not specified ClinVar Detail
NM_058195.4(CDKN2A):c.194-3653G>C AND Melanoma-pancreatic cancer syndrome ClinVar Detail
NM_058195.4(CDKN2A):c.194-3653G>C AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_058195.4(CDKN2A):c.194-3653G>C AND Familial melanoma ClinVar Detail
NM_058195.4(CDKN2A):c.194-3653G>C AND not provided ClinVar Detail
NM_058195.4(CDKN2A):c.194-3653G>C AND CDKN2A-related disorder ClinVar Detail
Sequence analysis demonstrated a known deleterious mutation in CDKN2A (G-34T) and homozygosity for a... DisGeNET Detail
Sequence analysis demonstrated a known deleterious mutation in CDKN2A (G-34T) and homozygosity for a... DisGeNET Detail
NA DisGeNET 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
rs1800586 dbSNP
Genome
hg19
Position
chr9:21,974,860-21,974,860
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
1580
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)
26278
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
0
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
7.610929294466855E-5
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