chr12:121416663:G>A Detail (hg19) (HNF1A)

Information

Genome

Assembly Position
hg19 chr12:121,416,663-121,416,663
hg38 chr12:120,978,860-120,978,860 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000545.6:c.92G>A NP_000536.5:p.Gly31Asp
NM_001306179.1:c.92G>A NP_001293108.1:p.Gly31Asp
Ensemble ENST00000544413.2:c.92G>A ENST00000544413.2:p.Gly31Asp
Summary

MGeND

Clinical significance other
Variant entry 1
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 142410 OMIM
HGNC 11621 HGNC
Ensembl ENSG00000135100 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM6909813 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
other Squamous cell carcinoma of esophagus (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2023-08-22 criteria provided, multiple submitters, no conflicts maturity-onset diabetes of the young type 3 germline Detail
Pathogenic 2005-03-01 no assertion criteria provided Clear cell carcinoma of kidney germline Detail
Pathogenic 2005-03-01 no assertion criteria provided chromophobe renal cell carcinoma germline Detail
Conflicting interpretations of pathogenicity 2020-11-06 criteria provided, conflicting interpretations not specified germline unknown Detail
Likely benign 2021-08-24 criteria provided, single submitter type 2 diabetes mellitus,type 1 diabetes mellitus 20,Diabetes mellitus type 1,Hepatic adenomas, familial,maturity-onset diabetes of the young type 3,nonpapillary renal cell carcinoma unknown Detail
Likely benign 2021-08-24 criteria provided, single submitter type 2 diabetes mellitus,type 1 diabetes mellitus 20,Diabetes mellitus type 1,Hepatic adenomas, familial,maturity-onset diabetes of the young type 3,nonpapillary renal cell carcinoma unknown Detail
Likely benign 2021-08-24 criteria provided, single submitter type 2 diabetes mellitus,type 1 diabetes mellitus 20,Diabetes mellitus type 1,Hepatic adenomas, familial,maturity-onset diabetes of the young type 3,nonpapillary renal cell carcinoma unknown Detail
Likely benign 2021-08-24 criteria provided, single submitter type 2 diabetes mellitus,type 1 diabetes mellitus 20,Diabetes mellitus type 1,Hepatic adenomas, familial,maturity-onset diabetes of the young type 3,nonpapillary renal cell carcinoma unknown Detail
Likely benign 2021-08-24 criteria provided, single submitter type 2 diabetes mellitus,type 1 diabetes mellitus 20,Diabetes mellitus type 1,Hepatic adenomas, familial,maturity-onset diabetes of the young type 3,nonpapillary renal cell carcinoma unknown Detail
Likely benign 2021-08-24 criteria provided, single submitter type 2 diabetes mellitus,type 1 diabetes mellitus 20,Diabetes mellitus type 1,Hepatic adenomas, familial,maturity-onset diabetes of the young type 3,nonpapillary renal cell carcinoma unknown Detail
Conflicting interpretations of pathogenicity 2024-01-26 criteria provided, conflicting interpretations not provided germline Detail
Benign 2021-12-15 reviewed by expert panel Monogenic diabetes germline Detail
Conflicting interpretations of pathogenicity 2022-04-15 criteria provided, conflicting interpretations Maturity onset diabetes mellitus in young germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.445 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) NA CLINVAR Detail
0.120 Conventional (Clear Cell) Renal Cell Carcinoma NA CLINVAR Detail
0.120 chromophobe renal cell carcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) AND Maturity-onset diabetes of the young type 3 ClinVar Detail
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) AND Clear cell carcinoma of kidney ClinVar Detail
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) AND Chromophobe renal cell carcinoma ClinVar Detail
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) AND not specified ClinVar Detail
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) AND multiple conditions ClinVar Detail
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) AND multiple conditions ClinVar Detail
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) AND multiple conditions ClinVar Detail
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) AND multiple conditions ClinVar Detail
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) AND multiple conditions ClinVar Detail
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) AND multiple conditions ClinVar Detail
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) AND not provided ClinVar Detail
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) AND Monogenic diabetes ClinVar Detail
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) AND Maturity onset diabetes mellitus in young ClinVar Detail
NA 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
rs137853247 dbSNP
Genome
hg19
Position
chr12:121,416,663-121,416,663
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8400
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)
115418
Allele Counts in All Race (ExAC)
82
Heterozygous Counts in All Race (ExAC)
82
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
7.104611065864943E-4
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