chr11:2159920:G>A Detail (hg38) (INS, INS-IGF2)

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

Genome

Assembly	Position
hg19	chr11:2,181,150-2,181,150 View the variant detail on this assembly version.
hg38	chr11:2,159,920-2,159,920

HGVS

INS
INS-IGF2

Type	Transcript	Protein
RefSeq	NM_000207.2:c.265C>T	NP_000198.1:p.Arg89Cys
	NM_001185097.1:c.265C>T	NP_001172026.1:p.Arg89Cys
	NM_001185098.1:c.265C>T	NP_001172027.1:p.Arg89Cys
	NM_001291897.1:c.265C>T	NP_001278826.1:p.Arg89Cys
Ensemble	ENST00000250971.7:c.265C>T	ENST00000250971.7:p.Arg89Cys
	ENST00000381330.5:c.265C>T	ENST00000381330.5:p.Arg89Cys
	ENST00000397262.5:c.265C>T	ENST00000397262.5:p.Arg89Cys
	ENST00000512523.1:c.229C>T	ENST00000512523.1:p.Arg77Cys

Type	Transcript	Protein
RefSeq	NM_001042376.2:c.187+865C>T
Ensemble	ENST00000397270.1:c.187+865C>T

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
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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
	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
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		autoantibody-negative insulin-requiring diabetes mellitus type 1	germline	MGS000001 (TMGS000138)	Kenjiro Kosaki	Keio University
Pathogenic		type 1 diabetes	germline	MGS000001 (TMGS000174)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2015-03-04	criteria provided, single submitter	permanent neonatal diabetes mellitus	germline not provided unknown	Detail
Uncertain significance		criteria provided, single submitter	Diabetes mellitus, permanent neonatal 4	germline unknown	Detail
Likely pathogenic		criteria provided, single submitter	Neonatal diabetes mellitus	germline	Detail
Pathogenic	2023-06-17	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.007	insulinoma	We examined the subcellular localization and secretion of 13 neonatal diabetes-a...	BeFree	20034470	Detail
0.568	DIABETES MELLITUS, PERMANENT NEONATAL	Insulin gene mutations as a cause of permanent neonatal diabetes.	UNIPROT	17855560	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000207.3(INS):c.265C>T (p.Arg89Cys) AND Permanent neonatal diabetes mellitus	ClinVar	Detail
NM_000207.3(INS):c.265C>T (p.Arg89Cys) AND Diabetes mellitus, permanent neonatal 4	ClinVar	Detail
NM_000207.3(INS):c.265C>T (p.Arg89Cys) AND Neonatal diabetes mellitus	ClinVar	Detail
NM_000207.3(INS):c.265C>T (p.Arg89Cys) AND not provided	ClinVar	Detail
We examined the subcellular localization and secretion of 13 neonatal diabetes-associated human proi...	DisGeNET	Detail
Insulin gene mutations as a cause of permanent neonatal diabetes.	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: rs80356669 dbSNP
Genome: hg38
Position: chr11:2,159,920-2,159,920
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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