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

Clinical significance:Benign (Last evaluated: Jun 29, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000576669.1

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:
Ateleiotic dwarfism (IGHD1A)
Synonyms:
IGHD IA; PITUITARY DWARFISM I; Isolated growth hormone deficiency type 1A; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009876; MedGen: C0342573; Orphanet: 631; OMIM: 262400
Name:
Autosomal dominant isolated somatotropin deficiency (IGHD2)
Synonyms:
IGHD II; Isolated growth hormone deficiency type 2; Growth hormone deficiency, isolated autosomal dominant; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008250; MedGen: C0271567; Orphanet: 631; OMIM: 173100
Name:
Short stature due to growth hormone qualitative anomaly
Synonyms:
Kowarski syndrome; Biodefective growth hormone; Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin
Identifiers:
MONDO: MONDO:0009879; MedGen: C1849779; OMIM: 262650
Name:
Isolated growth hormone deficiency type IB (IGHD1B)
Synonyms:
IGHD IB; Isolated growth hormone deficiency type 1B; IGHD 1B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0013006; MedGen: C2748571; Orphanet: 631; OMIM: 612781

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000677311Athena Diagnostics Inccriteria provided, single submitter
Benign
(Jun 29, 2017)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Detection of growth hormone gene defects by dideoxy fingerprinting (ddF).

Miyata I, Cogan JD, Prince MA, Kamijo T, Ogawa M, Phillips JA 3rd.

Endocr J. 1997 Feb;44(1):149-54.

PubMed [citation]
PMID:
9152628

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 (6)

Details of each submission

From Athena Diagnostics Inc, SCV000677311.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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