chr9:21970916:C>T Detail (hg19) (CDKN2A)

Information

Genome

Assembly Position
hg19 chr9:21,970,916-21,970,916
hg38 chr9:21,970,917-21,970,917 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001195132.1:c.442G>A NP_001182061.1:p.Ala148Thr
NM_000077.4:c.442G>A NP_000068.1:p.Ala148Thr
NM_058195.3:c.*86G>A
Summary

MGeND

Clinical significance Benign Likely pathogenic Uncertain significance
Variant entry 5
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 Benign
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 COSM3774361 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign 2020/04/20 ill-defined sites within the digestive system not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Benign 2021/03/19 control germline MGS000047
(TMGS000111) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Uncertain significance other unknown MGS000001
(TMGS000162) 		Kenjiro Kosaki Keio University
Likely pathogenic other unknown MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
Benign 2020/04/20 fundus of stomach not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2023-10-11 criteria provided, single submitter not provided germline Detail
Benign 2023-08-15 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Benign 2020-05-10 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign 2023-07-07 criteria provided, multiple submitters, no conflicts Melanoma-pancreatic cancer syndrome germline unknown Detail
Benign 2024-02-01 criteria provided, single submitter familial melanoma germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.160 Malignant neoplasm of lung Therefore, we hypothesized that the genetic variants in these three genes influe... BeFree 16912209 Detail
0.080 Carcinoma of lung Therefore, we hypothesized that the genetic variants in these three genes influe... BeFree 16912209 Detail
0.038 Malignant neoplasm of lung Therefore, we hypothesized that the genetic variants in these three genes influe... BeFree 16912209 Detail
0.030 Carcinoma of lung Therefore, we hypothesized that the genetic variants in these three genes influe... BeFree 16912209 Detail
0.360 melanoma An assessment of the CDKN2A variant Ala148Thr as a nevus/melanoma susceptibility... BeFree 12406345 Detail
0.002 Benign melanocytic nevus An assessment of the CDKN2A variant Ala148Thr as a nevus/melanoma susceptibility... BeFree 12406345 Detail
0.144 Cutaneous Melanoma The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Bra... BeFree 21895773 Detail
0.360 melanoma The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Bra... BeFree 21895773 Detail
0.007 Nevus An assessment of the CDKN2A variant Ala148Thr as a nevus/melanoma susceptibility... BeFree 12406345 Detail
0.023 breast carcinoma In the total set of 189 patients we found a novel change Pro48Arg (nt 143 c &gt;... BeFree 18714178 Detail
0.007 Melanocytic nevus An assessment of the CDKN2A variant Ala148Thr as a nevus/melanoma susceptibility... BeFree 12406345 Detail
0.001 Melanocytic nevus of skin An assessment of the CDKN2A variant Ala148Thr as a nevus/melanoma susceptibility... BeFree 12406345 Detail
0.023 breast carcinoma The CDKN2A A148T variant seems to contribute to early-onset breast cancer in Pol... BeFree 17061045 Detail
0.360 melanoma The CDKN2a common variants: 148 Ala/Thr and 500 C/G in 3' UTR, and their associa... BeFree 17351674 Detail
0.043 Malignant neoplasm of breast In the total set of 189 patients we found a novel change Pro48Arg (nt 143 c &gt;... BeFree 18714178 Detail
0.360 melanoma In the total set of 189 patients we found a novel change Pro48Arg (nt 143 c &gt;... BeFree 18714178 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) AND not provided ClinVar Detail
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) AND not specified ClinVar Detail
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) AND Melanoma-pancreatic cancer syndrome ClinVar Detail
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) AND Familial melanoma ClinVar Detail
Therefore, we hypothesized that the genetic variants in these three genes influence the predispositi... DisGeNET Detail
Therefore, we hypothesized that the genetic variants in these three genes influence the predispositi... DisGeNET Detail
Therefore, we hypothesized that the genetic variants in these three genes influence the predispositi... DisGeNET Detail
Therefore, we hypothesized that the genetic variants in these three genes influence the predispositi... DisGeNET Detail
An assessment of the CDKN2A variant Ala148Thr as a nevus/melanoma susceptibility allele. DisGeNET Detail
An assessment of the CDKN2A variant Ala148Thr as a nevus/melanoma susceptibility allele. DisGeNET Detail
The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil. DisGeNET Detail
The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil. DisGeNET Detail
An assessment of the CDKN2A variant Ala148Thr as a nevus/melanoma susceptibility allele. DisGeNET Detail
In the total set of 189 patients we found a novel change Pro48Arg (nt 143 c &gt; g), a novel introni... DisGeNET Detail
An assessment of the CDKN2A variant Ala148Thr as a nevus/melanoma susceptibility allele. DisGeNET Detail
An assessment of the CDKN2A variant Ala148Thr as a nevus/melanoma susceptibility allele. DisGeNET Detail
The CDKN2A A148T variant seems to contribute to early-onset breast cancer in Poland. DisGeNET Detail
The CDKN2a common variants: 148 Ala/Thr and 500 C/G in 3' UTR, and their association with clinical c... DisGeNET Detail
In the total set of 189 patients we found a novel change Pro48Arg (nt 143 c &gt; g), a novel introni... DisGeNET Detail
In the total set of 189 patients we found a novel change Pro48Arg (nt 143 c &gt; g), a novel introni... 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
rs3731249 dbSNP
Genome
hg19
Position
chr9:21,970,916-21,970,916
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8508
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)
118748
Allele Counts in All Race (ExAC)
2705
Heterozygous Counts in All Race (ExAC)
2585
Homozygous Counts in All Race (ExAC)
60
Allele Frequency in All Race (ExAC)
0.022779331020311922
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