NM_000352.4(ABCC8):c.215A>G (p.Asn72Ser) AND Permanent neonatal diabetes mellitus

Clinical significance:Pathogenic (Last evaluated: Jul 5, 2011)

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

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000009677.2

Allele description [Variation Report for NM_000352.4(ABCC8):c.215A>G (p.Asn72Ser)]

NM_000352.4(ABCC8):c.215A>G (p.Asn72Ser)

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_000352.4(ABCC8):c.215A>G (p.Asn72Ser)
HGVS:
  • NC_000011.10:g.17474961T>C
  • NG_008867.1:g.6942A>G
  • NM_000352.4:c.215A>G
  • NM_001287174.1:c.215A>G
  • NP_000343.2:p.Asn72Ser
  • NP_001274103.1:p.Asn72Ser
  • NC_000011.9:g.17496508T>C
  • NM_000352.3:c.215A>G
  • Q09428:p.Asn72Ser
Protein change:
N72S; ASN72SER
Links:
UniProtKB: Q09428#VAR_072929; OMIM: 600509.0021; dbSNP: 80356634
NCBI 1000 Genomes Browser:
rs80356634
Molecular consequence:
  • NM_000352.4:c.215A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Permanent neonatal diabetes mellitus (PNDM)
Identifiers:
MedGen: C1833104; OMIM: 606176

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000029895OMIMno assertion criteria providedPathogenic
(Aug 1, 2007)
germlineliterature only

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

SCV000040641GeneReviewsno assertion criteria providedpathologic
(Jul 5, 2011)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providednot providednot 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, SCV000029895.1

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

Description

In a patient from a cohort of 59 patients with permanent diabetes (606176) who received a diagnosis before 6 months of age and who did not have a KCNJ11 mutation, Ellard et al. (2007) identified an 215A-G transition in the ABCC8 gene, resulting in an asn72-to-ser (N72S) substitution, in combination with mosaic segmental paternal isodisomy for 11pter to 11p14. This region includes the ABCC8 gene, and thus uniparental disomy had unmasked a recessively acting mutation. The father was heterozygous for the mutation but did not have diabetes.

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

From GeneReviews, SCV000040641.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Sep 30, 2017