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NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) AND MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 12

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 9, 2025
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV005410894.1

Allele description [Variation Report for NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)]

NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)

Gene:
ABCC8:ATP binding cassette subfamily C member 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)
HGVS:
  • NC_000011.10:g.17404525G>A
  • NG_008867.1:g.77378C>T
  • NM_000352.6:c.3544C>TMANE SELECT
  • NM_001287174.3:c.3547C>T
  • NM_001351295.2:c.3610C>T
  • NM_001351296.2:c.3544C>T
  • NM_001351297.2:c.3541C>T
  • NP_000343.2:p.Arg1182Trp
  • NP_001274103.1:p.Arg1183Trp
  • NP_001338224.1:p.Arg1204Trp
  • NP_001338225.1:p.Arg1182Trp
  • NP_001338226.1:p.Arg1181Trp
  • LRG_790t1:c.3544C>T
  • LRG_790t2:c.3547C>T
  • LRG_790:g.77378C>T
  • LRG_790p1:p.Arg1182Trp
  • LRG_790p2:p.Arg1183Trp
  • NC_000011.9:g.17426072G>A
  • NM_000352.3:c.3544C>T
  • NM_000352.5:c.3544C>T
  • NR_147094.2:n.3693C>T
Protein change:
R1181W; ARG1182TRP
Links:
OMIM: 600509.0031; dbSNP: rs797045209
NCBI 1000 Genomes Browser:
rs797045209
Molecular consequence:
  • NM_000352.6:c.3544C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287174.3:c.3547C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351295.2:c.3610C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351296.2:c.3544C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351297.2:c.3541C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147094.2:n.3693C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 12 (MODY12)
Identifiers:
MedGen: CN379392; OMIM: 621196

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV006076852OMIM
no assertion criteria provided
Pathogenic
(May 9, 2025) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

ABCC8 variants in MODY12: Review of the literature and report of a case with severe complications.

Timmers M, Dirinck E, Lauwers P, Wuyts W, De Block C.

Diabetes Metab Res Rev. 2021 Nov;37(8):e3459. doi: 10.1002/dmrr.3459. Epub 2021 May 20.

PubMed [citation]
PMID:
34014594

Details of each submission

From OMIM, SCV006076852.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 35-year-old woman with maturity-onset diabetes of the young-12 (MODY12; 621196) who had severe microvascular diabetic complications, Timmers et al. (2021) identified heterozygosity for a c.3544C-T transition (c.3544C-T, NM_000352.6) in the ABCC8 gene that resulted in an arg1182-to-trp (R1182W) substitution. The mutation was present in 1/152,080 alleles in the gnomAD (v3.1) database. The mutation was subsequently identified in her mother, older daughter, and son. Her mother had diabetes which required only oral agents, and neither of her children had had neonatal diabetes. Timmers et al. (2021) noted that 2 transcripts for the ABCC8 gene differing in length by 1 amino acid arise by alternative splicing at exon 17; thus, residue R1182 may be referred to as R1183 according to another reference sequence.

Timmers et al. (2021) identified 10 reports in the literature that included individuals with the R1182W mutation, with phenotypes of transient neonatal diabetes mellitus (TNDM2; 610374), permanent neonatal diabetes permanent neonatal diabetes mellitus (PNDM3; 618857), and MODY. Patients were responsive to sulfonylurea.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 22, 2025