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NM_000207.3(INS):c.287G>C (p.Cys96Ser) 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:
RCV000059612.1

Allele description [Variation Report for NM_000207.3(INS):c.287G>C (p.Cys96Ser)]

NM_000207.3(INS):c.287G>C (p.Cys96Ser)

Genes:
INS-IGF2:INS-IGF2 readthrough [Gene - HGNC]
INS:insulin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_000207.3(INS):c.287G>C (p.Cys96Ser)
HGVS:
  • NC_000011.10:g.2159898C>G
  • NG_007114.1:g.6297G>C
  • NG_050578.1:g.6312G>C
  • NM_000207.3:c.287G>CMANE SELECT
  • NM_001042376.3:c.187+887G>C
  • NM_001185097.2:c.287G>C
  • NM_001185098.2:c.287G>C
  • NM_001291897.2:c.287G>C
  • NP_000198.1:p.Cys96Ser
  • NP_001172026.1:p.Cys96Ser
  • NP_001172027.1:p.Cys96Ser
  • NP_001278826.1:p.Cys96Ser
  • NC_000011.9:g.2181128C>G
  • NM_000207.2:c.287G>C
  • P01308:p.Cys96Ser
Protein change:
C96S
Links:
UniProtKB: P01308#VAR_063737; UniProtKB/Swiss-Prot: VAR_063737; dbSNP: rs80356671
NCBI 1000 Genomes Browser:
rs80356671
Molecular consequence:
  • NM_001042376.3:c.187+887G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000207.3:c.287G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185097.2:c.287G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185098.2:c.287G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291897.2:c.287G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000091161UniProtKB/Swiss-Prot
no classification provided
not providednot providednot provided

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B, Shepherd MH, Hussain K, Kapoor RR, Malecki M, MacDonald MJ, Støy J, Steiner DF, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group., Hattersley AT, Ellard S.

Diabetes. 2008 Apr;57(4):1034-42. Epub 2007 Dec 27.

PubMed [citation]
PMID:
18162506
PMCID:
PMC7611804

Details of each submission

From UniProtKB/Swiss-Prot, SCV000091161.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022