NM_000233.4(LHCGR):c.1103T>C (p.Leu368Pro) AND Gonadotropin-independent familial sexual precocity

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 2000
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:: RCV000015487.26

Allele description [Variation Report for NM_000233.4(LHCGR):c.1103T>C (p.Leu368Pro)]

NM_000233.4(LHCGR):c.1103T>C (p.Leu368Pro)

Genes:

STON1-GTF2A1L:STON1-GTF2A1L readthrough [Gene - HGNC]
LHCGR:luteinizing hormone/choriogonadotropin receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_000233.4(LHCGR):c.1103T>C (p.Leu368Pro)

HGVS:

NC_000002.12:g.48688694A>G
NG_008193.2:g.72048T>C
NG_033050.2:g.163770A>G
NM_000233.4:c.1103T>CMANE SELECT
NM_001198593.2:c.3441+17014A>G
NP_000224.2:p.Leu368Pro
NC_000002.11:g.48915833A>G
P22888:p.Leu368Pro

Protein change:

L368P; LEU368PRO

Links:

UniProtKB: P22888#VAR_062338; OMIM: 152790.0022; dbSNP: rs121912533

NCBI 1000 Genomes Browser:

rs121912533

Molecular consequence:

NM_001198593.2:c.3441+17014A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000233.4:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Gonadotropin-independent familial sexual precocity
Synonyms:: Testotoxicosis; Pubertas Praecox; Familial Testotoxicosis (subtype); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008303; MedGen: C0342549; Orphanet: 3000; OMIM: 176410

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000035752	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 2000)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000035752

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 2000)

germline

literature only

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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix.

Latronico AC, Shinozaki H, Guerra G Jr, Pereira MA, Lemos Marini SH, Baptista MT, Arnhold IJ, Fanelli F, Mendonca BB, Segaloff DL.

J Clin Endocrinol Metab. 2000 Dec;85(12):4799-805.

PubMed [citation]

PMID:: 11134146

Details of each submission

From OMIM, SCV000035752.2

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

Description

Latronico et al. (2000) examined 3 Brazilian boys, 2 brothers and 1 unrelated boy, with gonadotropin-independent precocious puberty (176410). Direct sequencing of the entire exon 11 of the LHCGR gene in the 2 brothers showed a heterozygous substitution of T for C at nucleotide 1103, resulting in the substitution of leu368 to pro (L368P) in the first transmembrane helix. Cells expressing the novel L368P mutation displayed up to a 12-fold increase in basal cAMP production compared with cells expressing the same number of cell surface wildtype LHCGR, indicating constitutive activation of the mutant receptor.

#	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

Last Updated: Sep 1, 2024

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