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NM_005912.3(MC4R):c.335C>T (p.Thr112Met) AND BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 17, 2021
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:
RCV002468091.1

Allele description [Variation Report for NM_005912.3(MC4R):c.335C>T (p.Thr112Met)]

NM_005912.3(MC4R):c.335C>T (p.Thr112Met)

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.335C>T (p.Thr112Met)
HGVS:
  • NC_000018.10:g.60372015G>A
  • NG_016441.1:g.5754C>T
  • NM_005912.3:c.335C>TMANE SELECT
  • NP_005903.2:p.Thr112Met
  • LRG_1346t1:c.335C>T
  • LRG_1346:g.5754C>T
  • LRG_1346p1:p.Thr112Met
  • NC_000018.9:g.58039248G>A
  • NC_000018.9:g.58039248G>A
  • NM_005912.2:c.335C>T
Protein change:
T112M
Links:
dbSNP: rs13447329
NCBI 1000 Genomes Browser:
rs13447329
Molecular consequence:
  • NM_005912.3:c.335C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 (BMIQ20)
Synonyms:
MELANOCORTIN 4 RECEPTOR DEFICIENCY; MC4R DEFICIENCY
Identifiers:
MedGen: C4759928; OMIM: 618406

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002764447New York Genome Center
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Nov 17, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center, SCV002764447.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jun 9, 2024