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NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
4 (Most recent: Mar 9, 2020)
Last evaluated:
Mar 1, 2016
Accession:
VCV000009105.4
Variation ID:
9105
Description:
single nucleotide variant
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NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys)

Allele ID
24144
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17395915 (GRCh38) GRCh38 UCSC
11: 17417462 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_790:g.85988C>T
LRG_790t1:c.4135C>T LRG_790p1:p.Arg1379Cys
LRG_790t2:c.4138C>T LRG_790p2:p.Arg1380Cys
... more HGVS
Protein change
R1379C, R1380C, R1378C, R1401C
Other names
-
Canonical SPDI
NC_000011.10:17395914:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00003
Links
ClinGen: CA120112
OMIM: 600509.0019
dbSNP: rs137852673
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Mar 1, 2016 RCV000502425.2
Pathogenic 1 no assertion criteria provided Nov 27, 2007 RCV000009674.4
Pathogenic 1 no assertion criteria provided Nov 27, 2007 RCV000009673.4
Likely pathogenic 1 no assertion criteria provided Jan 22, 2020 RCV001249022.1
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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
1055 1124

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 01, 2016)
criteria provided, single submitter
Method: clinical testing
Diabetes mellitus, permanent neonatal
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000592981.1
Submitted: (Jul 05, 2017)
Evidence details
Pathogenic
(Nov 27, 2007)
no assertion criteria provided
Method: literature only
DIABETES MELLITUS, NONINSULIN-DEPENDENT
Allele origin: germline
OMIM
Accession: SCV000029892.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)
Pathogenic
(Nov 27, 2007)
no assertion criteria provided
Method: literature only
DIABETES MELLITUS, TRANSIENT NEONATAL, 2
Allele origin: germline
OMIM
Accession: SCV000029891.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)
Likely pathogenic
(Jan 22, 2020)
no assertion criteria provided
Method: curation
Monogenic diabetes
(Autosomal dominant inheritance)
Allele origin: germline
Broad Institute Rare Disease Group, Broad Institute
Accession: SCV001422929.1
Submitted: (Mar 09, 2020)
Evidence details
Publications
PubMed (4)
Other databases
https://erepo.clinicalgenome.org…
Comment:
The p.Arg1379Cys (sometimes called p.Arg1380Cys) variant in ABCC8 has been reported in 7 individuals with Monogenic Diabetes, segregated with disease in 4 affected relatives from … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. Alkorta-Aranburu G Molecular genetics and metabolism 2014 PMID: 25306193
Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes. de Wet H Proceedings of the National Academy of Sciences of the United States of America 2007 PMID: 18025464
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Flanagan SE Diabetes 2007 PMID: 17446535
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. Babenko AP The New England journal of medicine 2006 PMID: 16885549
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/630d9c44-4746-4d89-a7d9-ea5be6d80c88 - - - -

Text-mined citations for rs137852673...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021