chr9:21974681:A>G Detail (hg19) (CDKN2A)

Information

Genome

Assembly Position
hg19 chr9:21,974,681-21,974,681
hg38 chr9:21,974,682-21,974,682 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000077.4:c.146T>C NP_000068.1:p.Ile49Thr
NM_001195132.1:c.146T>C NP_001182061.1:p.Ile49Thr
NM_058195.3:c.194-3474T>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 COSM303861 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2023-12-06 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2024-01-30 criteria provided, single submitter familial melanoma germline Detail
Uncertain significance 2023-05-08 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Uncertain significance 2016-07-12 criteria provided, single submitter Melanoma-pancreatic cancer syndrome unknown Detail
Uncertain significance 2017-04-03 criteria provided, single submitter Osteoblastic osteosarcoma germline Detail
Uncertain significance 2023-10-02 criteria provided, multiple submitters, no conflicts not specified germline Detail
Likely pathogenic 2020-01-07 criteria provided, single submitter melanoma and neural system tumor syndrome unknown Detail
not provided no assertion provided Melanoma-pancreatic cancer syndrome,melanoma and neural system tumor syndrome unknown Detail
not provided no assertion provided Melanoma-pancreatic cancer syndrome,melanoma and neural system tumor syndrome unknown Detail
Uncertain significance 2023-09-23 criteria provided, single submitter Acute lymphoid leukemia somatic Detail
Uncertain significance 2024-02-18 criteria provided, single submitter CDKN2A-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.121 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.145 Hereditary Melanoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) AND Familial melanoma ClinVar Detail
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) AND not provided ClinVar Detail
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) AND Melanoma-pancreatic cancer syndrome ClinVar Detail
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) AND Osteoblastic osteosarcoma ClinVar Detail
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) AND not specified ClinVar Detail
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) AND Melanoma and neural system tumor syndrome ClinVar Detail
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) AND multiple conditions ClinVar Detail
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) AND multiple conditions ClinVar Detail
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) AND Acute lymphoid leukemia ClinVar Detail
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) AND CDKN2A-related disorder ClinVar 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
rs199907548 dbSNP
Genome
hg19
Position
chr9:21,974,681-21,974,681
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8592
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)
119530
Allele Counts in All Race (ExAC)
53
Heterozygous Counts in All Race (ExAC)
53
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.434033297080231E-4
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