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NM_005912.3(MC4R):c.923A>T (p.Glu308Val) AND MC4R-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 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:
RCV004748106.1

Allele description [Variation Report for NM_005912.3(MC4R):c.923A>T (p.Glu308Val)]

NM_005912.3(MC4R):c.923A>T (p.Glu308Val)

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.923A>T (p.Glu308Val)
HGVS:
  • NC_000018.10:g.60371427T>A
  • NG_016441.1:g.6342A>T
  • NM_005912.3:c.923A>TMANE SELECT
  • NP_005903.2:p.Glu308Val
  • LRG_1346t1:c.923A>T
  • LRG_1346:g.6342A>T
  • LRG_1346p1:p.Glu308Val
  • NC_000018.9:g.58038660T>A
  • NM_005912.2:c.923A>T
Protein change:
E308V
Molecular consequence:
  • NM_005912.3:c.923A>T - 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
SCV005344999PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Jun 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, SCV005344999.1

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

Description

The MC4R c.923A>T variant is predicted to result in the amino acid substitution p.Glu308Val. This variant was previously reported in two individuals with obesity (Namjou et al. 2021. PubMed ID: 32952152, see Table S2). A variant affecting the same codon (c.922G>A) resulting in a similar amino acid substitution (p.Glu308Lys) has been reported in obese individuals (Santini et al. 2004. PubMed ID: 14764812; Albayrak et al. 2011. PubMed ID: 21211528). However, the p.Glu308Lys variant has also been reported in non-obese family members (Santini et al. 2004. PubMed ID: 14764812) and in vitro functional characterization yielded conflicting results (Xiang et al. 2009. PubMed ID: 20462274; Santini et al. 2004. PubMed ID: 14764812). This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of the c.923A>T (p.Glu308Val) 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