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NM_000207.3(INS):c.187+15C>T AND Neonatal insulin-dependent diabetes mellitus

Germline classification:
Benign (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002464667.1

Allele description [Variation Report for NM_000207.3(INS):c.187+15C>T]

NM_000207.3(INS):c.187+15C>T

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.187+15C>T
HGVS:
  • NC_000011.10:g.2160770G>A
  • NG_007114.1:g.5425C>T
  • NG_050578.1:g.5440C>T
  • NM_000207.3:c.187+15C>TMANE SELECT
  • NM_001042376.3:c.187+15C>T
  • NM_001185097.2:c.187+15C>T
  • NM_001185098.2:c.187+15C>T
  • NM_001291897.2:c.187+15C>T
  • NC_000011.9:g.2182000G>A
Links:
dbSNP: rs754089310
NCBI 1000 Genomes Browser:
rs754089310
Molecular consequence:
  • NM_000207.3:c.187+15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001042376.3:c.187+15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001185097.2:c.187+15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001185098.2:c.187+15C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001291897.2:c.187+15C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Neonatal insulin-dependent diabetes mellitus
Identifiers:
MedGen: C3278636; Human Phenotype Ontology: HP:0000857

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002605401Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
criteria provided, single submitter

(K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)
Benignunknownresearch

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

The insulin gene in diabetes.

Pugliese A, Miceli D.

Diabetes Metab Res Rev. 2002 Jan-Feb;18(1):13-25. Review.

PubMed [citation]
PMID:
11921414

INS-gene mutations: from genetics and beta cell biology to clinical disease.

Liu M, Sun J, Cui J, Chen W, Guo H, Barbetti F, Arvan P.

Mol Aspects Med. 2015 Apr;42:3-18. doi: 10.1016/j.mam.2014.12.001. Epub 2014 Dec 24. Review.

PubMed [citation]
PMID:
25542748
PMCID:
PMC4404187
See all PubMed Citations (4)

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002605401.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedresearch PubMed (4)

Description

Mutations in INS gene can cause early onset diabetes mellitus which is insulin dependent. May have poor response to sulfonylureas, as this mutation can cause beta cell destruction. However no sufficient evidence is found to ascertain the role of this particular variant rs754089310, yet.

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

Last Updated: Sep 1, 2024