NM_005912.2(MC4R):c.305T>G (p.Ile102Ser) AND Obesity

Clinical significance:Pathogenic (Last evaluated: Oct 1, 2005)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000015398.22

Allele description

NM_005912.2(MC4R):c.305T>G (p.Ile102Ser)

Gene:
MC4R:melanocortin 4 receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.32
Genomic location:
Preferred name:
NM_005912.2(MC4R):c.305T>G (p.Ile102Ser)
HGVS:
  • NC_000018.10:g.60372045A>C
  • NG_016441.1:g.5724T>G
  • NM_005912.2:c.305T>G
  • NP_005903.2:p.Ile102Ser
  • NC_000018.9:g.58039278A>C
  • P32245:p.Ile102Ser
Protein change:
I102S; ILE102SER
Links:
UniProtKB: P32245#VAR_038639; OMIM: 155541.0007; dbSNP: rs121913559
NCBI 1000 Genomes Browser:
rs121913559
Molecular consequence:
  • NM_005912.2:c.305T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Obesity (EO Obesity)
Synonyms:
OBESITY, SUSCEPTIBILITY TO
Identifiers:
MedGen: C0028754; Orphanet: 71529; OMIM: 601665
Age of onset:
Infancy
Prevalence:
1-5 / 10 000 71529

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000035659OMIMno assertion criteria providedPathogenic
(Oct 1, 2005)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children.

Dubern B, Clément K, Pelloux V, Froguel P, Girardet JP, Guy-Grand B, Tounian P.

J Pediatr. 2001 Aug;139(2):204-9.

PubMed [citation]
PMID:
11487744

Functional analyses of melanocortin-4 receptor mutations identified from patients with binge eating disorder and nonobese or obese subjects.

Tao YX, Segaloff DL.

J Clin Endocrinol Metab. 2005 Oct;90(10):5632-8. Epub 2005 Jul 19.

PubMed [citation]
PMID:
16030156

Details of each submission

From OMIM, SCV000035659.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In 1 of 63 obese (601665) children, Dubern et al. (2001) identified a T-to-G transversion at nucleotide 305 of the MC4R gene, resulting in an isoleucine-to-serine substitution at codon 102 in the second transmembrane domain of the melanocortin-4 receptor.

Through detailed functional characterization of cell surface expression, ligand binding, and signaling properties, Tao and Segaloff (2005) determined that the I102T variant results in loss of function of the MC4R protein.

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

Last Updated: Aug 20, 2017