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NM_005912.3(MC4R):c.48dup (p.Asn17fs) AND MC4R-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 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:
RCV004749169.1

Allele description [Variation Report for NM_005912.3(MC4R):c.48dup (p.Asn17fs)]

NM_005912.3(MC4R):c.48dup (p.Asn17fs)

Gene:
MC4R:melanocortin 4 receptor [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
18q21.32
Genomic location:
Preferred name:
NM_005912.3(MC4R):c.48dup (p.Asn17fs)
HGVS:
  • NC_000018.10:g.60372303dup
  • NG_016441.1:g.5467dup
  • NM_005912.3:c.48dupMANE SELECT
  • NP_005903.2:p.Asn17fs
  • LRG_1346t1:c.48dup
  • LRG_1346:g.5467dup
  • LRG_1346p1:p.Asn17fs
  • NC_000018.9:g.58039536dup
  • NM_005912.2:c.48dupG
Protein change:
N17fs
Molecular consequence:
  • NM_005912.3:c.48dup - 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
SCV005358752PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Sep 1, 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, SCV005358752.1

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

Description

The MC4R c.48dupG variant is predicted to result in a frameshift and premature protein termination (p.Asn17Glufs*13). This variant is also referred to as 47-48insG or InsG48 in the literature. It has been reported in individuals with obesity as well as in unaffected family members (Vaisse et al. 2000. PubMed ID: 10903341; Lubrano-Berthelier et al. 2006. PubMed ID: 16507637; Stutzmann et al. 2008. PubMed ID: 18559663). In vitro experimental studies indicate this variant affects protein function (Lubrano-Berthelier et al. 2006. PubMed ID: 16507637). This variant is reported in 0.0016% 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