U.S. flag

An official website of the United States government

NM_005912.3(MC4R):c.731C>T (p.Ala244Val) AND MC4R-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 20, 2024
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:
RCV004748335.1

Allele description [Variation Report for NM_005912.3(MC4R):c.731C>T (p.Ala244Val)]

NM_005912.3(MC4R):c.731C>T (p.Ala244Val)

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.731C>T (p.Ala244Val)
HGVS:
  • NC_000018.10:g.60371619G>A
  • NG_016441.1:g.6150C>T
  • NM_005912.3:c.731C>TMANE SELECT
  • NP_005903.2:p.Ala244Val
  • LRG_1346t1:c.731C>T
  • LRG_1346:g.6150C>T
  • LRG_1346p1:p.Ala244Val
  • NC_000018.9:g.58038852G>A
  • NM_005912.2:c.731C>T
Protein change:
A244V
Molecular consequence:
  • NM_005912.3:c.731C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
MC4R-related disorder
Synonyms:
MC4R-related condition
Identifiers:

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
SCV005350605PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Feb 20, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005350605.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The MC4R c.731C>T variant is predicted to result in the amino acid substitution p.Ala244Val. This variant was reported in an obese 11 year old female (Reinehr et al. 2009. PubMed ID: 18997677). However, in functional studies the p.Ala244Val substitution did not significantly impact protein surface expression or signal transduction properties (Reinehr et al. 2009. PubMed ID: 18997677). A different missense change at the same amino acid position, p.Ala244Glu, has previously been reported in individuals with obesity, although its pathogenicity has not been conclusively established (Stutzmann et al 2008. PubMed ID: 18559663; Lubrano-Berthelier et al 2003. PubMed ID: 12499395). The c.731C>T (p.Ala244Val) variant is reported in 0.0054% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Oct 13, 2024