NM_000823.3(GHRHR):c.169G>A (p.Ala57Thr) AND Isolated Growth Hormone Deficiency

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000328423.1

Allele description

NM_000823.3(GHRHR):c.169G>A (p.Ala57Thr)

Gene:
GHRHR:growth hormone releasing hormone receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p14.3
Genomic location:
Preferred name:
NM_000823.3(GHRHR):c.169G>A (p.Ala57Thr)
HGVS:
  • NC_000007.14:g.30969071G>A
  • NG_021416.1:g.10051G>A
  • NM_000823.3:c.169G>A
  • NP_000814.2:p.Ala57Thr
  • NC_000007.13:g.31008686G>A
  • Q02643:p.Ala57Thr
Protein change:
A57T
Links:
UniProtKB: Q02643#VAR_033962; dbSNP: rs4988496
GMAF:
0.1274(A), 4988496
NCBI 1000 Genomes Browser:
rs4988496
Allele Frequency:
0.11477(A), GO-ESP
Molecular consequence:
  • NM_000823.3:c.169G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Isolated Growth Hormone Deficiency
Identifiers:
MedGen: C0271563

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000468746Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A polymorphism in the growth hormone (GH)-releasing hormone (GHRH) receptor gene is associated with elevated response to GHRH by human pituitary somatotrophinomas in vitro.

Adams EF, Symowski H, Buchfelder M, Poyner DR.

Biochem Biophys Res Commun. 2000 Aug 18;275(1):33-6.

PubMed [citation]
PMID:
10944436

Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature.

Inoue H, Kangawa N, Kinouchi A, Sakamoto Y, Kimura C, Horikawa R, Shigematsu Y, Itakura M, Ogata T, Fujieda K; Japan Growth Genome Consortium..

Clin Endocrinol (Oxf). 2011 Feb;74(2):223-33. doi: 10.1111/j.1365-2265.2010.03911.x.

PubMed [citation]
PMID:
21044116
See all PubMed Citations (3)

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000468746.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2017