NM_000406.2(GNRHR):c.416G>A (p.Arg139His) AND Hypogonadotropic hypogonadism 7 with or without anosmia

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 2001
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:: RCV000030914.29

Allele description

NM_000406.2(GNRHR):c.416G>A (p.Arg139His)

Gene:

GNRHR:gonadotropin releasing hormone receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q13.2

Genomic location:

Preferred name:

NM_000406.2(GNRHR):c.416G>A (p.Arg139His)

HGVS:

NC_000004.12:g.67753920C>T
NG_009293.1:g.7167G>A
NM_000406.2:c.416G>A
NP_000397.1:p.Arg139His
NC_000004.11:g.68619638C>T
P30968:p.Arg139His

Protein change:

R139H; ARG139HIS

Links:

UniProtKB: P30968#VAR_019315; OMIM: 138850.0008; dbSNP: rs104893842

NCBI 1000 Genomes Browser:

rs104893842

Molecular consequence:

NM_000406.2:c.416G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hypogonadotropic hypogonadism 7 with or without anosmia (HH7)
Synonyms:: Hypogonadotropic hypogonadism; Isolated hypogonadotropic hypogonadism; HYPOGONADOTROPIC HYPOGONADISM 7 WITH ANOSMIA; See all synonyms [MedGen]
Identifiers:: MedGen: C0342384; Orphanet: 432; OMIM: 146110; Human Phenotype Ontology: HP:0000044

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037677	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 2001)	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

SCV000037677

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 2001)

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

Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction.

Costa EM, Bedecarrats GY, Mendonca BB, Arnhold IJ, Kaiser UB, Latronico AC.

J Clin Endocrinol Metab. 2001 Jun;86(6):2680-6.

PubMed [citation]

PMID:: 11397871

Details of each submission

From OMIM, SCV000037677.3

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

Description

In a Brazilian woman with complete hypogonadotropic hypogonadism (HH7; 146110), Costa et al. (2001) identified homozygosity for an arg139-to-his (R139H) substitution located in the conserved DRS motif at the junction of the third transmembrane and the second intracellular loop of the GNRHR gene. The R139H mutation completely eliminated detectable GNRH-binding activity and prevented GNRH-induced stimulation of inositol phosphate accumulation in vitro. The patient had undetectable serum basal LH and FSH levels that failed to respond to GNRH stimulation.

#	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: Apr 17, 2019

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