NM_000163.5(GHR):c.497G>A (p.Gly166Glu) AND Short stature due to partial GHR deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 18, 2016
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:: RCV000490420.1

Allele description [Variation Report for NM_000163.5(GHR):c.497G>A (p.Gly166Glu)]

NM_000163.5(GHR):c.497G>A (p.Gly166Glu)

Gene:

GHR:growth hormone receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p12

Genomic location:

Preferred name:

NM_000163.5(GHR):c.497G>A (p.Gly166Glu)

HGVS:

NC_000005.10:g.42699881G>A
NG_011688.2:g.280958G>A
NM_000163.5:c.497G>AMANE SELECT
NM_001242399.2:c.518G>A
NM_001242400.2:c.497G>A
NM_001242401.4:c.497G>A
NM_001242402.2:c.497G>A
NM_001242403.3:c.497G>A
NM_001242404.2:c.497G>A
NM_001242405.2:c.497G>A
NM_001242406.2:c.497G>A
NM_001242460.2:c.431G>A
NM_001242462.1:c.497G>A
NP_000154.1:p.Gly166Glu
NP_001229328.1:p.Gly173Glu
NP_001229329.1:p.Gly166Glu
NP_001229330.1:p.Gly166Glu
NP_001229331.1:p.Gly166Glu
NP_001229332.1:p.Gly166Glu
NP_001229333.1:p.Gly166Glu
NP_001229334.1:p.Gly166Glu
NP_001229335.1:p.Gly166Glu
NP_001229389.1:p.Gly144Glu
NP_001229389.1:p.Gly144Glu
NP_001229391.1:p.Gly166Glu
NC_000005.9:g.42699983G>A
NM_000163.4:c.497G>A
NM_001242460.1:c.431G>A

Protein change:

G144E

Links:

dbSNP: rs761856079

NCBI 1000 Genomes Browser:

rs761856079

Molecular consequence:

NM_000163.5:c.497G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001242399.2:c.518G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001242400.2:c.497G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001242401.4:c.497G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001242402.2:c.497G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001242403.3:c.497G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001242404.2:c.497G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001242405.2:c.497G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001242406.2:c.497G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001242460.2:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001242462.1:c.497G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Short stature due to partial GHR deficiency
Synonyms:: Short stature, idiopathic, autosomal; GROWTH HORMONE INSENSITIVITY, PARTIAL; Growth hormone, insensitivity to, partial; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011420; MedGen: C1858656; Orphanet: 314811; OMIM: 604271

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000267339	Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 18, 2016)	germline	reference population	PubMed (2) [See all records that cite these PMIDs] 17274879, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000267339

Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 18, 2016)

germline

reference population

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
East Asian	germline	unknown	1	not provided	not provided	not provided	not provided	reference population

Citations

PubMed

[Mutation of growth hormone receptor gene in patients with short stature].

Song F, Dai YH, Bao XL, Chen XL, Jin YW.

Zhonghua Er Ke Za Zhi. 2006 Nov;44(11):859-64. Chinese.

PubMed [citation]

PMID:: 17274879

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267339.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	East Asian	1	not provided	not provided	reference population	PubMed (2)

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

Last Updated: Sep 1, 2024

ClinVar

Relating variation to medicine