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NM_001287174.2(ABCC8):c.257T>G (p.Val86Gly)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Jan 8, 2013)
Last evaluated:
Jul 5, 2011
Accession:
VCV000009111.1
Variation ID:
9111
Description:
single nucleotide variant
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NM_001287174.2(ABCC8):c.257T>G (p.Val86Gly)

Allele ID
24150
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17474919 (GRCh38) GRCh38 UCSC
11: 17496466 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17474919A>C
NC_000011.9:g.17496466A>C
NM_000352.5:c.257T>G NP_000343.2:p.Val86Gly missense
... more HGVS
Protein change
V86G
Other names
ABCC8, 257T-G, VAL86GLY
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA340877
UniProtKB: Q09428#VAR_072930
OMIM: 600509.0026
dbSNP: rs193929360
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 no assertion criteria provided Jul 5, 2011 RCV000009681.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ABCC8 - - GRCh38
GRCh37
505 535

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
pathologic
(Jul 05, 2011)
no assertion criteria provided
Method: curation
Permanent Neonatal Diabetes Mellitus
Allele origin: not provided
GeneReviews
Accession: SCV000040643.1
Submitted: (Jan 08, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Aug 01, 2007)
no assertion criteria provided
Method: literature only
DIABETES MELLITUS, PERMANENT NEONATAL
Allele origin: germline
OMIM
Accession: SCV000029899.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Permanent Neonatal Diabetes Mellitus De León DD - 2016 PMID: 20301620
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. Ellard S American journal of human genetics 2007 PMID: 17668386

Record last updated Oct 27, 2019