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NM_005912.3(MC4R):c.343_344del (p.Gln115fs) AND MC4R-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 10, 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:
RCV003417116.6

Allele description [Variation Report for NM_005912.3(MC4R):c.343_344del (p.Gln115fs)]

NM_005912.3(MC4R):c.343_344del (p.Gln115fs)

Gene:
MC4R:melanocortin 4 receptor [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
18q21.32
Genomic location:
Preferred name:
NM_005912.3(MC4R):c.343_344del (p.Gln115fs)
HGVS:
  • NC_000018.10:g.60372006TG[1]
  • NG_016441.1:g.5760CA[1]
  • NM_005912.3:c.343_344delMANE SELECT
  • NP_005903.2:p.Gln115fs
  • LRG_1346t1:c.343_344del
  • LRG_1346:g.5760CA[1]
  • LRG_1346p1:p.Gln115fs
  • NC_000018.9:g.58039239TG[1]
  • NM_005912.2:c.343_344delCA
Protein change:
Q115fs
Molecular consequence:
  • NM_005912.3:c.343_344del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV004114980PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Apr 10, 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, SCV004114980.3

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

Description

The MC4R c.343_344delCA variant is predicted to result in a frameshift and premature protein termination (p.Gln115Glufs*7). This variant has been reported in the heterozygous state in an individual with severe obesity (Seelig et al. 2022. PubMed ID: 34694010). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Frameshift variants in MC4R are expected to be pathogenic. This variant is interpreted as pathogenic.

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

Last Updated: Oct 13, 2024