NM_000515.5(GH1):c.7A>G (p.Thr3Ala) AND Decreased response to growth hormone stimulation test

Clinical significance:Likely benign (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001126654.1

Allele description [Variation Report for NM_000515.5(GH1):c.7A>G (p.Thr3Ala)]

NM_000515.5(GH1):c.7A>G (p.Thr3Ala)

Genes:
GH1:growth hormone 1 [Gene - OMIM - HGNC]
GH-LCR:growth hormone locus control region [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.3
Genomic location:
Preferred name:
NM_000515.5(GH1):c.7A>G (p.Thr3Ala)
HGVS:
  • NC_000017.11:g.63918770T>C
  • NG_011676.1:g.5069A>G
  • NG_042788.1:g.1678T>C
  • NM_000515.5:c.7A>GMANE SELECT
  • NM_022559.4:c.7A>G
  • NM_022560.4:c.7A>G
  • NP_000506.2:p.Thr3Ala
  • NP_072053.1:p.Thr3Ala
  • NP_072054.1:p.Thr3Ala
  • NC_000017.10:g.61996130T>C
  • NM_000515.3:c.7A>G
  • NM_000515.4:c.7A>G
  • P01241:p.Thr3Ala
Protein change:
T3A
Links:
UniProtKB: P01241#VAR_011917; dbSNP: rs2001345
NCBI 1000 Genomes Browser:
rs2001345
Molecular consequence:
  • NM_000515.5:c.7A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022559.4:c.7A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022560.4:c.7A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Decreased response to growth hormone stimulation test
Synonyms:
Growth hormone deficiency
Identifiers:
MedGen: C3714796; Human Phenotype Ontology: HP:0000824

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001285876Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Apr 27, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African population.

Millar DS, Lewis MD, Horan M, Newsway V, Rees DA, Easter TE, Pepe G, Rickards O, Norin M, Scanlon MF, Krawczak M, Cooper DN.

Mol Cell Endocrinol. 2008 Dec 16;296(1-2):18-25. doi: 10.1016/j.mce.2008.09.023. Epub 2008 Oct 4.

PubMed [citation]
PMID:
18950677

Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature.

Millar DS, Lewis MD, Horan M, Newsway V, Easter TE, Gregory JW, Fryklund L, Norin M, Crowne EC, Davies SJ, Edwards P, Kirk J, Waldron K, Smith PJ, Phillips JA 3rd, Scanlon MF, Krawczak M, Cooper DN, Procter AM.

Hum Mutat. 2003 Apr;21(4):424-40.

PubMed [citation]
PMID:
12655557
See all PubMed Citations (3)

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001285876.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Nov 27, 2021

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