NM_001287174.1(ABCC8):c.134C>T (p.Pro45Leu) AND Permanent neonatal diabetes mellitus

Clinical significance:Pathogenic (Last evaluated: Aug 1, 2007)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000009680.3

Allele description [Variation Report for NM_001287174.1(ABCC8):c.134C>T (p.Pro45Leu)]

NM_001287174.1(ABCC8):c.134C>T (p.Pro45Leu)

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_001287174.1(ABCC8):c.134C>T (p.Pro45Leu)
Other names:
ABCC8, 134C-T, PRO45LEU
HGVS:
  • NC_000011.10:g.17476643G>A
  • NG_008867.1:g.5260C>T
  • NM_000352.4:c.134C>T
  • NM_001287174.1:c.134C>T
  • NP_000343.2:p.Pro45Leu
  • NP_001274103.1:p.Pro45Leu
  • NC_000011.9:g.17498190G>A
  • Q09428:p.Pro45Leu
Protein change:
P45L; PRO45LEU
Links:
UniProtKB: Q09428#VAR_072928; OMIM: 600509.0024; dbSNP: 267606623
NCBI 1000 Genomes Browser:
rs267606623
Molecular consequence:
  • NM_001287174.1:c.134C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Permanent neonatal diabetes mellitus (PNDM)
Identifiers:
MedGen: C1833104; OMIM: 606176
Prevalence:
The estimated incidence of permanent neonatal diabetes ranges from 1:215,000 to 1:260,000 live births

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000029898OMIMno assertion criteria providedPathogenic
(Aug 1, 2007)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.

Ellard S, Flanagan SE, Girard CA, Patch AM, Harries LW, Parrish A, Edghill EL, Mackay DJ, Proks P, Shimomura K, Haberland H, Carson DJ, Shield JP, Hattersley AT, Ashcroft FM.

Am J Hum Genet. 2007 Aug;81(2):375-82. Epub 2007 Jun 29.

PubMed [citation]
PMID:
17668386
PMCID:
PMC1950816

Details of each submission

From OMIM, SCV000029898.1

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

Description

In a patient with permanent neonatal diabetes mellitus (606176), Ellard et al. (2007) observed compound heterozygosity for mutations in the ABCC8 gene. One allele carried a 134C-T transition resulting in a pro45-to-leu substitution (P45L); the other carried a 4201G-A transition resulting in a gly1401-to-arg substitution (G1401R; 600509.0025).

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

Last Updated: Sep 23, 2016