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NM_005912.3(MC4R):c.892G>A (p.Asp298Asn) AND MC4R-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 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:
RCV004748315.1

Allele description [Variation Report for NM_005912.3(MC4R):c.892G>A (p.Asp298Asn)]

NM_005912.3(MC4R):c.892G>A (p.Asp298Asn)

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.892G>A (p.Asp298Asn)
HGVS:
  • NC_000018.10:g.60371458C>T
  • NG_016441.1:g.6311G>A
  • NM_005912.3:c.892G>AMANE SELECT
  • NP_005903.2:p.Asp298Asn
  • LRG_1346t1:c.892G>A
  • LRG_1346:g.6311G>A
  • LRG_1346p1:p.Asp298Asn
  • NC_000018.9:g.58038691C>T
  • NM_005912.2:c.892G>A
Protein change:
D298N
Molecular consequence:
  • NM_005912.3:c.892G>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
SCV005349524PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(May 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, SCV005349524.1

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

Description

The MC4R c.892G>A variant is predicted to result in the amino acid substitution p.Asp298Asn. To our knowledge, this variant has not been reported in the literature for patients with disease. This variant has been reported in the literature for several animal studies (Kim et al. 2000. PubMed ID: 10656927; Fontanesi et al. 2013. doi:10.1016/j.livsci.2013.07.006; Calta et al. 2023. PubMed ID: 36583444). Functional studies have demonstrated that this amino acid substitution decreases protein activity (Kim et al. 2004. PubMed ID: 14732454; Zhang et al. 2020. PubMed ID: 32738077). This variant is reported in 0.0080% of alleles in individuals of European (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