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NM_005912.3(MC4R):c.272T>G (p.Met91Arg) AND Obesity

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 28, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV002464552.1

Allele description [Variation Report for NM_005912.3(MC4R):c.272T>G (p.Met91Arg)]

NM_005912.3(MC4R):c.272T>G (p.Met91Arg)

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.272T>G (p.Met91Arg)
HGVS:
  • NC_000018.10:g.60372078A>C
  • NG_016441.1:g.5691T>G
  • NM_005912.3:c.272T>GMANE SELECT
  • NP_005903.2:p.Met91Arg
  • LRG_1346t1:c.272T>G
  • LRG_1346:g.5691T>G
  • LRG_1346p1:p.Met91Arg
  • NC_000018.9:g.58039311A>C
Protein change:
M91R
Molecular consequence:
  • NM_005912.3:c.272T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Obesity
Synonyms:
Obesity disorder
Identifiers:
MONDO: MONDO:0011122; MeSH: D009765; MedGen: C0028754; Orphanet: 71529; Human Phenotype Ontology: HP:0001513

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002540645Department of Paediatrics, National University Hospital
no assertion criteria provided
Likely pathogenic
(May 28, 2022) 		unknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Chinese,Malay,Indianunknownyes1not providednot providednot providedyesresearch

Details of each submission

From Department of Paediatrics, National University Hospital, SCV002540645.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Chinese,Malay,Indian1not providedyesresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 9, 2024