chr12:12717761:T>C Detail (hg38) (CDKN1B)

Information

Genome

Assembly Position
hg19 chr12:12,870,695-12,870,695 View the variant detail on this assembly version.
hg38 chr12:12,717,761-12,717,761

HGVS

Type Transcript Protein
RefSeq NM_004064.4:c.-79T>C
Ensemble ENST00000228872.9:c.-79T>C
ENST00000614874.2:c.-79T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.545
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 600778 OMIM
HGNC 1785 HGNC
Ensembl ENSG00000111276 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv45001713 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-29 criteria provided, multiple submitters, no conflicts multiple endocrine neoplasia type 4 germline Detail
Benign 2018-06-22 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.080 Carcinoma of lung When individuals with variant-containing genotypes were compared with homozygous... BeFree 17908995 Detail
0.002 Malignant neoplasm of lung When individuals with variant-containing genotypes were compared with homozygous... BeFree 17908995 Detail
0.160 Malignant neoplasm of lung When individuals with variant-containing genotypes were compared with homozygous... BeFree 17908995 Detail
0.002 Carcinoma of lung When individuals with variant-containing genotypes were compared with homozygous... BeFree 17908995 Detail
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
0.120 Lupus Erythematosus, Systemic Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, C... GWASCAT 23273568 Detail
0.001 Malignant neoplasm of endometrium Three single nucleotide polymorphisms in the CDKN1B gene (rs11055027, rs3759216,... BeFree 21454826 Detail
0.002 endometrial carcinoma Three single nucleotide polymorphisms in the CDKN1B gene (rs11055027, rs3759216,... BeFree 21454826 Detail
0.001 uterine corpus cancer Three single nucleotide polymorphisms in the CDKN1B gene (rs11055027, rs3759216,... BeFree 21454826 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004064.5(CDKN1B):c.-79T>C AND Multiple endocrine neoplasia type 4 ClinVar Detail
NM_004064.5(CDKN1B):c.-79T>C AND not provided ClinVar Detail
When individuals with variant-containing genotypes were compared with homozygous wild-type carriers,... DisGeNET Detail
When individuals with variant-containing genotypes were compared with homozygous wild-type carriers,... DisGeNET Detail
When individuals with variant-containing genotypes were compared with homozygous wild-type carriers,... DisGeNET Detail
When individuals with variant-containing genotypes were compared with homozygous wild-type carriers,... 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
This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the ... DisGeNET Detail
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID... DisGeNET Detail
Three single nucleotide polymorphisms in the CDKN1B gene (rs11055027, rs3759216, and rs34330) were r... DisGeNET Detail
Three single nucleotide polymorphisms in the CDKN1B gene (rs11055027, rs3759216, and rs34330) were r... DisGeNET Detail
Three single nucleotide polymorphisms in the CDKN1B gene (rs11055027, rs3759216, and rs34330) were r... 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
rs34330 dbSNP
Genome
hg38
Position
chr12:12,717,761-12,717,761
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs34330
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5455
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9142
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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