chr11:17460613:C>T Detail (hg38) (ABCC8)

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

Information

Genome

Assembly	Position
hg19	chr11:17,482,160-17,482,160 View the variant detail on this assembly version.
hg38	chr11:17,460,613-17,460,613

HGVS

ABCC8

Type	Transcript	Protein
RefSeq	NM_001287174.1:c.886G>A	NP_001274103.1:p.Gly296Arg
	NM_000352.4:c.886G>A	NP_000343.2:p.Gly296Arg
Ensemble	ENST00000302539.9:c.886G>A	ENST00000302539.9:p.Gly296Arg
	ENST00000389817.8:c.886G>A	ENST00000389817.8:p.Gly296Arg
	ENST00000642271.1:c.883G>A	ENST00000642271.1:p.Gly295Arg
	ENST00000643260.1:c.883G>A	ENST00000643260.1:p.Gly295Arg
	ENST00000644772.1:c.886G>A	ENST00000644772.1:p.Gly296Arg
	ENST00000646902.1:c.883G>A	ENST00000646902.1:p.Gly295Arg
	ENST00000647015.1:c.886G>A	ENST00000647015.1:p.Gly296Arg
	ENST00000683136.1:c.883G>A	ENST00000683136.1:p.Gly295Arg
	ENST00000684571.1:c.883G>A	ENST00000684571.1:p.Gly295Arg

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	Uncertain significance
Review star
Show details

Links

ABCC8

Type	Database	ID	Link
Gene	MIM	600509	OMIM
	HGNC	59	HGNC
	Ensembl	ENSG00000006071	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv371642446	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2019-02-02	criteria provided, single submitter	not specified	germline	Detail
Uncertain significance	2020-01-22	criteria provided, single submitter	Monogenic diabetes	germline	Detail
Uncertain significance	2020-09-16	no assertion criteria provided	Hereditary hyperinsulinism	germline	Detail
Uncertain significance	2021-11-16	criteria provided, single submitter	Hyperinsulinemic hypoglycemia, familial, 1	unknown	Detail
Uncertain significance	2022-03-14	criteria provided, single submitter	Diabetes mellitus, transient neonatal, 2,Hyperinsulinemic hypoglycemia, familial, 1,Diabetes mellitus, permanent neonatal 3,Leucine-induced hypoglycemia,type 2 diabetes mellitus	unknown	Detail
Uncertain significance	2022-03-14	criteria provided, single submitter	Diabetes mellitus, transient neonatal, 2,Hyperinsulinemic hypoglycemia, familial, 1,Diabetes mellitus, permanent neonatal 3,Leucine-induced hypoglycemia,type 2 diabetes mellitus	unknown	Detail
Uncertain significance	2022-03-14	criteria provided, single submitter	Diabetes mellitus, transient neonatal, 2,Hyperinsulinemic hypoglycemia, familial, 1,Diabetes mellitus, permanent neonatal 3,Leucine-induced hypoglycemia,type 2 diabetes mellitus	unknown	Detail
Uncertain significance	2022-03-14	criteria provided, single submitter	Diabetes mellitus, transient neonatal, 2,Hyperinsulinemic hypoglycemia, familial, 1,Diabetes mellitus, permanent neonatal 3,Leucine-induced hypoglycemia,type 2 diabetes mellitus	unknown	Detail
Uncertain significance	2022-03-14	criteria provided, single submitter	Diabetes mellitus, transient neonatal, 2,Hyperinsulinemic hypoglycemia, familial, 1,Diabetes mellitus, permanent neonatal 3,Leucine-induced hypoglycemia,type 2 diabetes mellitus	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.133	Neonatal diabetes mellitus	NA	CLINVAR		Detail
0.009	Diabetes	Here, we report a case of diabetes in a 7-mo old child with compound heterozygou...	BeFree	22562119	Detail
0.021	diabetes mellitus	Here, we report a case of diabetes in a 7-mo old child with compound heterozygou...	BeFree	22562119	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND not specified	ClinVar	Detail
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND Monogenic diabetes	ClinVar	Detail
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND Hereditary hyperinsulinism	ClinVar	Detail
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND Hyperinsulinemic hypoglycemia, familial, 1	ClinVar	Detail
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND multiple conditions	ClinVar	Detail
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND multiple conditions	ClinVar	Detail
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND multiple conditions	ClinVar	Detail
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND multiple conditions	ClinVar	Detail
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
Here, we report a case of diabetes in a 7-mo old child with compound heterozygous mutations in ABCC8...	DisGeNET	Detail
Here, we report a case of diabetes in a 7-mo old child with compound heterozygous mutations in ABCC8...	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: rs148529020 dbSNP
Genome: hg38
Position: chr11:17,460,613-17,460,613
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8594
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): 120484
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): 8.29985724245543E-6

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