chr9:21974219:A>G Detail (hg38) (CDKN2A)

Information

Genome

Assembly Position
hg19 chr9:21,974,218-21,974,218 View the variant detail on this assembly version.
hg38 chr9:21,974,219-21,974,219

HGVS

Type Transcript Protein
RefSeq NM_000077.4:c.150+459T>C
NM_001195132.1:c.150+459T>C
NM_058195.3:c.194-3011T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.154
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

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 tgv35780786 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-01-10 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.034 Malignant neoplasm of breast This approach found evidence for breast cancer-associated SNPs in four of the ce... BeFree 18174243 Detail
0.016 breast carcinoma This approach found evidence for breast cancer-associated SNPs in four of the ce... BeFree 18174243 Detail
0.023 breast carcinoma This approach found evidence for breast cancer-associated SNPs in four of the ce... BeFree 18174243 Detail
0.043 Malignant neoplasm of breast This approach found evidence for breast cancer-associated SNPs in four of the ce... BeFree 18174243 Detail
0.004 breast carcinoma This approach found evidence for breast cancer-associated SNPs in four of the ce... BeFree 18174243 Detail
0.014 Malignant neoplasm of breast This approach found evidence for breast cancer-associated SNPs in four of the ce... BeFree 18174243 Detail
<0.001 squamous cell carcinoma In the meta-analyses by ASSET, four SNPs (rs3731239 in CDKN2A, rs615552 and rs57... BeFree 23361049 Detail
0.012 squamous cell carcinoma In the meta-analyses by ASSET, four SNPs (rs3731239 in CDKN2A, rs615552 and rs57... BeFree 23361049 Detail
0.001 Malignant neoplasm of breast ASSET analyses identified four SNPs significantly associated with multiple cance... BeFree 25239644 Detail
0.001 Carcinoma of bladder ASSET analyses identified four SNPs significantly associated with multiple cance... BeFree 25239644 Detail
0.001 Carcinoma of lung ASSET analyses identified four SNPs significantly associated with multiple cance... BeFree 25239644 Detail
0.001 Malignant neoplasm of lung ASSET analyses identified four SNPs significantly associated with multiple cance... BeFree 25239644 Detail
0.001 Malignant neoplasm of urinary bladder ASSET analyses identified four SNPs significantly associated with multiple cance... BeFree 25239644 Detail
0.015 Carcinoma of bladder ASSET analyses identified four SNPs significantly associated with multiple cance... BeFree 25239644 Detail
<0.001 stomach carcinoma ASSET analyses identified four SNPs significantly associated with multiple cance... BeFree 25239644 Detail
0.001 breast carcinoma ASSET analyses identified four SNPs significantly associated with multiple cance... BeFree 25239644 Detail
0.038 Malignant neoplasm of lung ASSET analyses identified four SNPs significantly associated with multiple cance... BeFree 25239644 Detail
<0.001 Malignant neoplasm of stomach ASSET analyses identified four SNPs significantly associated with multiple cance... BeFree 25239644 Detail
0.030 Carcinoma of lung ASSET analyses identified four SNPs significantly associated with multiple cance... BeFree 25239644 Detail
0.023 breast carcinoma ASSET analyses identified four SNPs significantly associated with multiple cance... BeFree 25239644 Detail
0.043 Malignant neoplasm of breast ASSET analyses identified four SNPs significantly associated with multiple cance... BeFree 25239644 Detail
0.022 Malignant neoplasm of urinary bladder ASSET analyses identified four SNPs significantly associated with multiple cance... BeFree 25239644 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000077.5(CDKN2A):c.150+459T>C AND not provided ClinVar Detail
This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the ... DisGeNET Detail
This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the ... DisGeNET Detail
This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the ... DisGeNET Detail
This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the ... DisGeNET Detail
This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the ... DisGeNET Detail
This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the ... DisGeNET Detail
In the meta-analyses by ASSET, four SNPs (rs3731239 in CDKN2A, rs615552 and rs573687 in CDKN2B and r... DisGeNET Detail
In the meta-analyses by ASSET, four SNPs (rs3731239 in CDKN2A, rs615552 and rs573687 in CDKN2B and r... DisGeNET Detail
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... DisGeNET Detail
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... DisGeNET Detail
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... DisGeNET Detail
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... DisGeNET Detail
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... DisGeNET Detail
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... DisGeNET Detail
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... DisGeNET Detail
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... DisGeNET Detail
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... DisGeNET Detail
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... DisGeNET Detail
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... DisGeNET Detail
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... DisGeNET Detail
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... DisGeNET Detail
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3731239 dbSNP
Genome
hg38
Position
chr9:21,974,219-21,974,219
Variant Type
snv
Reference Allele
A
Alternative Allele
G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs3731239
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1545
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2590
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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