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NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser) AND Permanent neonatal diabetes mellitus

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000009677.5

Allele description [Variation Report for NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser)]

NM_000352.6(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_000352.6(ABCC8):c.215A>G (p.Asn72Ser)
HGVS:
  • NC_000011.10:g.17474961T>C
  • NG_008867.1:g.6942A>G
  • NM_000352.6:c.215A>GMANE SELECT
  • NM_001287174.3:c.215A>G
  • NM_001351295.2:c.215A>G
  • NM_001351296.2:c.215A>G
  • NM_001351297.2:c.215A>G
  • NP_000343.2:p.Asn72Ser
  • NP_001274103.1:p.Asn72Ser
  • NP_001338224.1:p.Asn72Ser
  • NP_001338225.1:p.Asn72Ser
  • NP_001338226.1:p.Asn72Ser
  • LRG_790t1:c.215A>G
  • LRG_790t2:c.215A>G
  • LRG_790:g.6942A>G
  • LRG_790p1:p.Asn72Ser
  • LRG_790p2:p.Asn72Ser
  • NC_000011.9:g.17496508T>C
  • NM_000352.3:c.215A>G
  • NR_147094.2:n.284A>G
  • Q09428:p.Asn72Ser
Protein change:
N72S; ASN72SER
Links:
UniProtKB: Q09428#VAR_072929; OMIM: 600509.0021; dbSNP: rs80356634
NCBI 1000 Genomes Browser:
rs80356634
Molecular consequence:
  • NM_000352.6:c.215A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287174.3:c.215A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351295.2:c.215A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351296.2:c.215A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351297.2:c.215A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147094.2:n.284A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Permanent neonatal diabetes mellitus (PNDM)
Synonyms:
Permanent diabetes mellitus of infancy
Identifiers:
MONDO: MONDO:0100164; MedGen: C1833104; OMIM: PS606176

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000040641GeneReviews
no classification provided
not providedunknownliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot 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

Permanent Neonatal Diabetes Mellitus.

De León DD, Stanley CA.

2008 Feb 8 [updated 2016 Jul 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
20301620

Details of each submission

From GeneReviews, SCV000040641.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Sep 16, 2024