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NM_005912.3(MC4R):c.757G>A (p.Val253Ile) AND MC4R-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 17, 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:
RCV004748830.1

Allele description [Variation Report for NM_005912.3(MC4R):c.757G>A (p.Val253Ile)]

NM_005912.3(MC4R):c.757G>A (p.Val253Ile)

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.757G>A (p.Val253Ile)
HGVS:
  • NC_000018.10:g.60371593C>T
  • NG_016441.1:g.6176G>A
  • NM_005912.2(MC4R):c.757G>A
  • NM_005912.3:c.757G>AMANE SELECT
  • NP_005903.2:p.Val253Ile
  • LRG_1346t1:c.757G>A
  • LRG_1346:g.6176G>A
  • LRG_1346p1:p.Val253Ile
  • NC_000018.9:g.58038826C>T
  • NC_000018.9:g.58038826C>T
  • NM_005912.2(MC4R):c.757G>A
  • NM_005912.2:c.757G>A
  • p.Val253Ile
Protein change:
V253I
Links:
dbSNP: rs187152753
NCBI 1000 Genomes Browser:
rs187152753
Molecular consequence:
  • NM_005912.3:c.757G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005357772PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(May 17, 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, SCV005357772.1

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

Description

The MC4R c.757G>A variant is predicted to result in the amino acid substitution p.Val253Ile. This variant has been reported in several individuals with obesity (Farooqi et al. 2000. PubMed ID: 10903343; Stutzmann et al. 2008. PubMed ID: 18559663; Patient 26, Kleinendorst et al. 2018. PubMed ID: 29970488). However, functional studies suggest that this variant does not significantly impair receptor expression or activation (Lubrano-Berthelier et al. 2003. PubMed ID: 12499395; Nijenhuis et al. 2003. PubMed ID: 12690102; Xiang et al. 2006. PubMed ID: 16752916). This variant is reported in 0.011% of alleles in individuals of Latino 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