U.S. flag

An official website of the United States government

NM_000207.3(INS):c.85C>G (p.His29Asp) AND Diabetes mellitus, permanent neonatal 4

Germline classification:
Uncertain significance (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:
RCV003445480.1

Allele description [Variation Report for NM_000207.3(INS):c.85C>G (p.His29Asp)]

NM_000207.3(INS):c.85C>G (p.His29Asp)

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.85C>G (p.His29Asp)
HGVS:
  • NC_000011.10:g.2160887G>C
  • NG_007114.1:g.5308C>G
  • NG_050578.1:g.5323C>G
  • NM_000207.3:c.85C>GMANE SELECT
  • NM_001042376.3:c.85C>G
  • NM_001185097.2:c.85C>G
  • NM_001185098.2:c.85C>G
  • NM_001291897.2:c.85C>G
  • NP_000198.1:p.His29Asp
  • NP_001035835.1:p.His29Asp
  • NP_001172026.1:p.His29Asp
  • NP_001172027.1:p.His29Asp
  • NP_001278826.1:p.His29Asp
  • NC_000011.9:g.2182117G>C
  • NM_000207.2:c.85C>G
  • NR_003512.4:n.144C>G
  • P01308:p.His29Asp
Protein change:
H29D
Links:
UniProtKB: P01308#VAR_063724; UniProtKB/Swiss-Prot: VAR_063724; dbSNP: rs121908272
NCBI 1000 Genomes Browser:
rs121908272
Molecular consequence:
  • NM_000207.3:c.85C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042376.3:c.85C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185097.2:c.85C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185098.2:c.85C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291897.2:c.85C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_003512.4:n.144C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Diabetes mellitus, permanent neonatal 4
Identifiers:
MONDO: MONDO:0030089; MedGen: C5394307; OMIM: 618858

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004174202Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
criteria provided, single submitter

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

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedresearch

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 Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV004174202.1

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

Description

Potent mutations in the INS gene can cause early onset diabetes mellitus which is insulin dependent. May have poor response to sulfonylureas, mutations in this gene can cause beta cell destruction.However, more evidence is required to confer the association of this particular variant H29D/ rs121908272 with Neonatal diabetes mellitus

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

Last Updated: Sep 1, 2024