chr11:2159919:C>T Detail (hg38) (INS, INS-IGF2)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr11:2,181,149-2,181,149 View the variant detail on this assembly version.
hg38	chr11:2,159,919-2,159,919

HGVS

INS
INS-IGF2

Type	Transcript	Protein
RefSeq	NM_000207.2:c.266G>A	NP_000198.1:p.Arg89His
	NM_001185097.1:c.266G>A	NP_001172026.1:p.Arg89His
	NM_001185098.1:c.266G>A	NP_001172027.1:p.Arg89His
	NM_001291897.1:c.266G>A	NP_001278826.1:p.Arg89His
Ensemble	ENST00000250971.7:c.266G>A	ENST00000250971.7:p.Arg89His
	ENST00000381330.5:c.266G>A	ENST00000381330.5:p.Arg89His
	ENST00000397262.5:c.266G>A	ENST00000397262.5:p.Arg89His
	ENST00000512523.1:c.230G>A	ENST00000512523.1:p.Arg77His

Type	Transcript	Protein
RefSeq	NM_001042376.2:c.187+866G>A
Ensemble	ENST00000397270.1:c.187+866G>A

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

INS
INS-IGF2

Type	Database	ID	Link
Gene	MIM	176730	OMIM
	HGNC	6081	HGNC
	Ensembl	ENSG00000254647	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv41352766	TogoVar
	COSMIC
	MONDO

Type	Database	ID	Link
Gene	MIM
	HGNC	33527	HGNC
	Ensembl	ENSG00000129965	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv41352766	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2022-08-03	criteria provided, conflicting interpretations	Hyperproinsulinemia	germline unknown	Detail
Pathogenic	2020-01-01	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2022-09-14	criteria provided, single submitter	INS-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.123	Hyperproinsulinemia	These mutant proinsulin proteins accumulate in the endoplasmic reticulum (ER) an...	BeFree	20034470	Detail
0.123	Hyperproinsulinemia	Two unrelated patients with familial hyperproinsulinemia due to a mutation subst...	UNIPROT	2196279	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000207.3(INS):c.266G>A (p.Arg89His) AND Hyperproinsulinemia	ClinVar	Detail
NM_000207.3(INS):c.266G>A (p.Arg89His) AND not provided	ClinVar	Detail
NM_000207.3(INS):c.266G>A (p.Arg89His) AND INS-related disorder	ClinVar	Detail
These mutant proinsulin proteins accumulate in the endoplasmic reticulum (ER) and are poorly secrete...	DisGeNET	Detail
Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine fo...	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: rs28933985 dbSNP
Genome: hg38
Position: chr11:2,159,919-2,159,919
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 5456
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): 72544
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.3784737538597265E-5

Genome browser