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NM_000515.5(GH1):c.-4T>G AND multiple conditions

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 29, 2017
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:
RCV000576459.2

Allele description [Variation Report for NM_000515.5(GH1):c.-4T>G]

NM_000515.5(GH1):c.-4T>G

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.-4T>G
HGVS:
  • NC_000017.11:g.63918780A>C
  • NG_011676.1:g.5059T>G
  • NG_042788.1:g.1688A>C
  • NM_000515.4:c.-4T>G
  • NM_000515.5:c.-4T>GMANE SELECT
  • NM_022559.4:c.-4T>G
  • NM_022560.4:c.-4T>G
  • NC_000017.10:g.61996140A>C
  • NM_000515.3:c.-4T>G
Links:
dbSNP: rs6173
NCBI 1000 Genomes Browser:
rs6173
Molecular consequence:
  • NM_000515.5:c.-4T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_022559.4:c.-4T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_022560.4:c.-4T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

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
Identifiers:
MONDO: MONDO:0013006; MedGen: C2748571; Orphanet: 631; OMIM: 612781

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000677310Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Benign
(Jun 29, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics, SCV000677310.1

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

Last Updated: Oct 13, 2024