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NM_005912.3(MC4R):c.817C>T (p.Gln273Ter) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 18, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000519708.1

Allele description [Variation Report for NM_005912.3(MC4R):c.817C>T (p.Gln273Ter)]

NM_005912.3(MC4R):c.817C>T (p.Gln273Ter)

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.817C>T (p.Gln273Ter)
HGVS:
  • NC_000018.10:g.60371533G>A
  • NG_016441.1:g.6236C>T
  • NM_005912.3:c.817C>TMANE SELECT
  • NP_005903.2:p.Gln273Ter
  • LRG_1346t1:c.817C>T
  • LRG_1346:g.6236C>T
  • LRG_1346p1:p.Gln273Ter
  • NC_000018.9:g.58038766G>A
  • NM_005912.2:c.817C>T
Protein change:
Q273*
Links:
dbSNP: rs1555691353
NCBI 1000 Genomes Browser:
rs1555691353
Molecular consequence:
  • NM_005912.3:c.817C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000619056GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Jul 18, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000619056.2

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

Description

The Q273X variant in the MC4R gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation with the loss of the last 60 amino acid residue. The Q273X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret Q273X as a likely pathogenic variant.

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

Last Updated: Apr 23, 2022