NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) AND Obesity

Clinical significance:Uncertain significance (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000015406.29

Allele description [Variation Report for NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)]

NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)

Gene:
MC4R:melanocortin 4 receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.32
Genomic location:
Preferred name:
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)
HGVS:
  • NC_000018.10:g.60371827C>T
  • NG_016441.1:g.5942G>A
  • NM_005912.3:c.523G>AMANE SELECT
  • NP_005903.2:p.Ala175Thr
  • LRG_1346t1:c.523G>A
  • LRG_1346:g.5942G>A
  • LRG_1346p1:p.Ala175Thr
  • NC_000018.9:g.58039060C>T
  • NM_005912.2:c.523G>A
  • P32245:p.Ala175Thr
Protein change:
A175T; ALA175THR
Links:
UniProtKB: P32245#VAR_038646; OMIM: 155541.0015; dbSNP: rs121913563
NCBI 1000 Genomes Browser:
rs121913563
Molecular consequence:
  • NM_005912.3:c.523G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Obesity (EO Obesity)
Synonyms:
OBESITY, SUSCEPTIBILITY TO; Obesity disorder
Identifiers:
MONDO: MONDO:0011122; MeSH: D009765; MedGen: C0028754; Orphanet: 71529; OMIM: 601665; Human Phenotype Ontology: HP:0001513

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000692300Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospitalno assertion criteria providedPathogenic
(Mar 16, 2011)
germlineclinical testing

SCV001287368Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms.

Yeo GS, Lank EJ, Farooqi IS, Keogh J, Challis BG, O'Rahilly S.

Hum Mol Genet. 2003 Mar 1;12(5):561-74.

PubMed [citation]
PMID:
12588803

Molecular mechanisms of the neural melanocortin receptor dysfunction in severe early onset obesity.

Tao YX.

Mol Cell Endocrinol. 2005 Jul 15;239(1-2):1-14. Review.

PubMed [citation]
PMID:
15975705

Details of each submission

From Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital, SCV000692300.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Illumina Clinical Services Laboratory,Illumina, SCV001287368.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Sep 6, 2021

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