U.S. flag

An official website of the United States government

NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) AND Obesity

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 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:
RCV000709738.1

Allele description [Variation Report for NM_005912.3(MC4R):c.466C>T (p.Gln156Ter)]

NM_005912.3(MC4R):c.466C>T (p.Gln156Ter)

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.466C>T (p.Gln156Ter)
HGVS:
  • NC_000018.10:g.60371884G>A
  • NG_016441.1:g.5885C>T
  • NM_005912.3:c.466C>TMANE SELECT
  • NP_005903.2:p.Gln156Ter
  • LRG_1346t1:c.466C>T
  • LRG_1346:g.5885C>T
  • LRG_1346p1:p.Gln156Ter
  • NC_000018.9:g.58039117G>A
  • NM_005912.2:c.466C>T
Protein change:
Q156*
Links:
dbSNP: rs369841551
NCBI 1000 Genomes Browser:
rs369841551
Molecular consequence:
  • NM_005912.3:c.466C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Obesity
Synonyms:
Obesity disorder
Identifiers:
MONDO: MONDO:0011122; MeSH: D009765; MedGen: C0028754; Orphanet: 71529; Human Phenotype Ontology: HP:0001513

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000840005Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 18, 2017) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine, SCV000840005.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This c.466C>T (p.Gln156*) variant has not been observed in the ExAC database, nor has been observed in our patient cohort but has been reported in dbSNP (rs369841551) with a minor allele frequency of 0.00008. This c.466C>T encodes for a nonsense codon in exon 1 at amino acid position 156 of the MC4R protein. This premature stop codon is predicted to result in a loss of function of the protein. It is thus classify as a pathogenic variant.

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

Last Updated: Oct 13, 2024