chr11:17395215:G>A Detail (hg38) (ABCC8)

Information

Genome

Assembly Position
hg19 chr11:17,416,762-17,416,762 View the variant detail on this assembly version.
hg38 chr11:17,395,215-17,395,215

HGVS

Type Transcript Protein
RefSeq NM_001287174.1:c.4371C>T NP_001274103.1:p.Ile1457=
NM_000352.4:c.4368C>T NP_000343.2:p.Ile1456=
Ensemble ENST00000302539.9:c.4371C>T ENST00000302539.9:p.Ile1457=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:<0.001
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
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 tgv41766073 TogoVar
COSMIC COSM1352938 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2024-01-03 criteria provided, single submitter not provided germline Detail
Benign criteria provided, single submitter Maturity onset diabetes mellitus in young unknown Detail
Uncertain significance criteria provided, single submitter Transitory neonatal diabetes mellitus unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.133 Neonatal diabetes mellitus NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000352.6(ABCC8):c.4368C>T (p.Ile1456=) AND not provided ClinVar Detail
NM_000352.6(ABCC8):c.4368C>T (p.Ile1456=) AND Maturity onset diabetes mellitus in young ClinVar Detail
NM_000352.6(ABCC8):c.4368C>T (p.Ile1456=) AND Transitory neonatal diabetes mellitus ClinVar 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
rs193922403 dbSNP
Genome
hg38
Position
chr11:17,395,215-17,395,215
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1197
Mean of sample read depth (HGVD)
39.44
Standard deviation of sample read depth (HGVD)
17.71
Number of reference allele (HGVD)
2393
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.177109440267335E-4
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))
rs193922403
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
3060
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)
43042
Allele Counts in All Race (ExAC)
18
Heterozygous Counts in All Race (ExAC)
18
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.18196180474885E-4
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