NM_004291.4(CARTPT):c.183G>C (p.Leu61Phe) AND Obesity

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 18, 2018
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:: RCV000023199.6

Allele description [Variation Report for NM_004291.4(CARTPT):c.183G>C (p.Leu61Phe)]

NM_004291.4(CARTPT):c.183G>C (p.Leu61Phe)

Gene:

CARTPT:CART prepropeptide [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q13.2

Genomic location:

Preferred name:

NM_004291.4(CARTPT):c.183G>C (p.Leu61Phe)

Other names:

L34F

HGVS:

NC_000005.10:g.71719903G>C
NG_015988.1:g.5741G>C
NM_004291.4:c.183G>CMANE SELECT
NP_004282.1:p.Leu61Phe
NC_000005.9:g.71015730G>C
NM_004291.3:c.183G>C
Q16568:p.Leu61Phe

Protein change:

L61F; LEU34PHE

Links:

UniProtKB: Q16568#VAR_012199; OMIM: 602606.0001; dbSNP: rs121909065

NCBI 1000 Genomes Browser:

rs121909065

Molecular consequence:

NM_004291.4:c.183G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000044490	OMIM	no assertion criteria provided	risk factor (Dec 1, 2004)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 11522684, 15326462
SCV001527019	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 18, 2018)	paternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000044490

OMIM

no assertion criteria provided

risk factor
(Dec 1, 2004)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

SCV001527019

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 18, 2018)

paternal

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	paternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutational screening of the CART gene in obese children: identifying a mutation (Leu34Phe) associated with reduced resting energy expenditure and cosegregating with obesity phenotype in a large family.

del Giudice EM, Santoro N, Cirillo G, D'Urso L, Di Toro R, Perrone L.

Diabetes. 2001 Sep;50(9):2157-60.

PubMed [citation]

PMID:: 11522684

CART peptide levels are altered by a mutation associated with obesity at codon 34.

Dominguez G, del Giudice EM, Kuhar MJ.

Mol Psychiatry. 2004 Dec;9(12):1065-6. No abstract available.

PubMed [citation]

PMID:: 15326462

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000044490.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In an obese (601665) 10-year-old Italian boy whose onset of obesity had been at the age of 2 years, Del Giudice et al. (2001) identified a G-to-C transversion at nucleotide 729 of the CART gene resulting in a leucine to phenylalanine substitution at codon 34 (L34F). The leucine at this position is conserved in human and rat. The L34F mutation segregated with severe obesity over 3 generations in this family and was not identified in the control population. Both he and his mother were found to have reduced resting energy expenditures.

Dominguez et al. (2004) transfected mouse pituitary corticotroph cells with wildtype CART and CART carrying the L34F mutation. They found that CART peptide levels in cells carrying the mutation were lower than levels found in cells carrying wildtype CART.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV001527019.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 9, 2024

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