chr11:17418477:C>A Detail (hg19) (ABCC8)

Information

Genome

Assembly Position
hg19 chr11:17,418,477-17,418,477
hg38 chr11:17,396,930-17,396,930 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001287174.1:c.4108G>T NP_001274103.1:p.Ala1370Ser
NM_000352.4:c.4105G>T NP_000343.2:p.Ala1369Ser
Ensemble ENST00000646902.1:c.4072G>T ENST00000646902.1:p.Ala1358Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.614
ToMMo:0.614
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.621

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
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 tgv41766233 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2017-02-12 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2016-06-14 criteria provided, single submitter Hyperinsulinism, Dominant/Recessive germline Detail
Benign 2016-06-14 criteria provided, single submitter Transient Neonatal Diabetes, Dominant germline Detail
Benign 2016-06-14 criteria provided, single submitter permanent neonatal diabetes mellitus germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2020-09-16 no assertion criteria provided Hereditary hyperinsulinism germline Detail
Benign 2021-07-01 criteria provided, single submitter Leucine-induced hypoglycemia germline Detail
Benign 2021-07-01 criteria provided, single submitter Hyperinsulinemic hypoglycemia, familial, 1 germline Detail
Benign 2021-07-01 criteria provided, single submitter Diabetes mellitus, transient neonatal, 2 germline Detail
Benign 2021-07-01 criteria provided, single submitter Diabetes mellitus, permanent neonatal 3 germline Detail
Benign criteria provided, single submitter type 2 diabetes mellitus somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.019 Diabetes Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S i... BeFree 17259403 Detail
0.021 diabetes mellitus Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S i... BeFree 17259403 Detail
0.133 Neonatal diabetes mellitus Although rare monogenic activating mutations in these genes cause overt neonatal... BeFree 22187380 Detail
0.060 diabetes mellitus Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S i... BeFree 17259403 Detail
0.009 Diabetes Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S i... BeFree 17259403 Detail
0.060 diabetes mellitus Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabe... BeFree 25955821 Detail
0.315 Diabetes Mellitus, Non-Insulin-Dependent Comprehensive tagging studies have demonstrated that the KCNJ11 E23K variant (or... BeFree 17342155 Detail
0.021 diabetes mellitus Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabe... BeFree 25955821 Detail
0.315 Diabetes Mellitus, Non-Insulin-Dependent The common ATP-sensitive potassium (KATP) channel variants E23K and S1369A, foun... BeFree 22209866 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S i... BeFree 17259403 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Although rare monogenic activating mutations in these genes cause overt neonatal... BeFree 22187380 Detail
0.149 Neonatal diabetes mellitus Although rare monogenic activating mutations in these genes cause overt neonatal... BeFree 22187380 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent The common ATP-sensitive potassium (KATP) channel variants E23K and S1369A, foun... BeFree 22209866 Detail
0.315 Diabetes Mellitus, Non-Insulin-Dependent The common polymorphisms KCNJ11 E23K and ABCC8 A1369S have been consistently ass... BeFree 17259403 Detail
0.315 Diabetes Mellitus, Non-Insulin-Dependent The ATP-sensitive K(+) channel ABCC8 S1369A type 2 diabetes risk variant increas... BeFree 22187380 Detail
0.095 hypoglycemia ABCC8 polymorphism (Ser1369Ala): influence on severe hypoglycemia due to sulfony... BeFree 21142918 Detail
<0.001 thyrotoxicosis We examined the ABCC8 gene at the single nucleotide level using PCR-restriction ... BeFree 25143473 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) AND not specified ClinVar Detail
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) AND Hyperinsulinism, Dominant/Recessive ClinVar Detail
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) AND Transient Neonatal Diabetes, Dominant ClinVar Detail
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) AND Permanent neonatal diabetes mellitus ClinVar Detail
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) AND not provided ClinVar Detail
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) AND Hereditary hyperinsulinism ClinVar Detail
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) AND Leucine-induced hypoglycemia ClinVar Detail
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) AND Hyperinsulinemic hypoglycemia, familial, 1 ClinVar Detail
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) AND Diabetes mellitus, transient neonatal, 2 ClinVar Detail
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) AND Diabetes mellitus, permanent neonatal 3 ClinVar Detail
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) AND Type 2 diabetes mellitus ClinVar Detail
Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression... DisGeNET Detail
Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression... DisGeNET Detail
Although rare monogenic activating mutations in these genes cause overt neonatal diabetes, the commo... DisGeNET Detail
Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression... DisGeNET Detail
Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression... DisGeNET Detail
Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabetes Mellitus 2 Type ... DisGeNET Detail
Comprehensive tagging studies have demonstrated that the KCNJ11 E23K variant (or ABCC8 A1369S in LD&... DisGeNET Detail
Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabetes Mellitus 2 Type ... DisGeNET Detail
The common ATP-sensitive potassium (KATP) channel variants E23K and S1369A, found in the KCNJ11 and ... DisGeNET Detail
Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression... DisGeNET Detail
Although rare monogenic activating mutations in these genes cause overt neonatal diabetes, the commo... DisGeNET Detail
Although rare monogenic activating mutations in these genes cause overt neonatal diabetes, the commo... DisGeNET Detail
The common ATP-sensitive potassium (KATP) channel variants E23K and S1369A, found in the KCNJ11 and ... DisGeNET Detail
The common polymorphisms KCNJ11 E23K and ABCC8 A1369S have been consistently associated with type 2 ... DisGeNET Detail
The ATP-sensitive K(+) channel ABCC8 S1369A type 2 diabetes risk variant increases MgATPase activity... DisGeNET Detail
ABCC8 polymorphism (Ser1369Ala): influence on severe hypoglycemia due to sulfonylureas. DisGeNET Detail
We examined the ABCC8 gene at the single nucleotide level using PCR-restriction fragment length poly... 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
rs757110 dbSNP
Genome
hg19
Position
chr11:17,418,477-17,418,477
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
56.53
Standard deviation of sample read depth (HGVD)
23.73
Number of reference allele (HGVD)
934
Number of alternative allele (HGVD)
1486
Allele Frequency (HGVD)
0.6140495867768595
Gene Symbol (HGVD)
ABCC8
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))
rs757110
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6145
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10297
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8602
East Asian Allele Counts (ExAC)
5338
East Asian Heterozygous Counts (ExAC)
2038
East Asian Homozygous Counts (ExAC)
1650
East Asian Allele Frequency (ExAC)
0.6205533596837944
Chromosome Counts in All Race (ExAC)
121110
Allele Counts in All Race (ExAC)
77880
Heterozygous Counts in All Race (ExAC)
26750
Homozygous Counts in All Race (ExAC)
25565
Allele Frequency in All Race (ExAC)
0.6430517711171662
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