NM_000163.4(GHR):c.484G>A (p.Val162Ile) AND Short stature, idiopathic, autosomal

Clinical significance:Pathogenic (Last evaluated: Nov 1, 1998)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000009184.4

Allele description

NM_000163.4(GHR):c.484G>A (p.Val162Ile)

Gene:
GHR:growth hormone receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p12
Genomic location:
Preferred name:
NM_000163.4(GHR):c.484G>A (p.Val162Ile)
HGVS:
  • NC_000005.10:g.42699868G>A
  • NG_011688.1:g.280945G>A
  • NM_000163.4:c.484G>A
  • NP_000154.1:p.Val162Ile
  • NC_000005.9:g.42699970G>A
  • P10912:p.Val162Ile
Protein change:
V144I; VAL144ILE
Links:
UniProtKB: P10912#VAR_018430; OMIM: 600946.0020; dbSNP: rs6413484
GMAF:
0.0066(A), 6413484
NCBI 1000 Genomes Browser:
rs6413484
Allele Frequency:
0.00137(A), GO-ESP
Molecular consequence:
  • NM_000163.4:c.484G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Short stature, idiopathic, autosomal (GHDP)
Synonyms:
Short Stature; GROWTH HORMONE INSENSITIVITY, PARTIAL; GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL
Identifiers:
MedGen: C1858656; Orphanet: 314811; OMIM: 604271; OMIM: 615925

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000029401OMIMno assertion criteria providedPathogenic
(Nov 1, 1998)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Growth hormone receptor mutations in children with idiopathic short stature.

Sanchez JE, Perera E, Baumbach L, Cleveland WW.

J Clin Endocrinol Metab. 1998 Nov;83(11):4079-83.

PubMed [citation]
PMID:
9814495

Details of each submission

From OMIM, SCV000029401.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Sanchez et al. (1998) analyzed the GHR gene in 17 subjects with partial growth hormone insensitivity and short stature (GHIP; 604271). A novel heterozygous mutation (c.484G-A) in exon 6 resulting in a val144-to-ile substitution in the extracellular domain was found in 1 subject (height, -1.8 SD). The mutation was also found in his mother and 1 brother, both of whom had significant short stature (height, -2.5 SD and -2.3 SD, respectively). Affected family members also had a polymorphism in exon 6 of the GHR gene (c.168A-G); the authors noted that this polymorphism had been reported in other subjects with short stature and heterozygous mutations of the GHR gene. None of the affected members of this family had any features of growth hormone insensitiviy syndrome (Laron syndrome).

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

Last Updated: Sep 5, 2017