NM_000515.5(GH1):c.291+2T>C AND Autosomal dominant isolated somatotropin deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2003
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000017350.25

Allele description [Variation Report for NM_000515.5(GH1):c.291+2T>C]

NM_000515.5(GH1):c.291+2T>C

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.291+2T>C

HGVS:

NC_000017.11:g.63918015A>G
NG_011676.1:g.5824T>C
NG_042788.1:g.923A>G
NM_000515.5:c.291+2T>CMANE SELECT
NM_022559.4:c.246+2T>C
NM_022560.4:c.172-91T>C
NC_000017.10:g.61995375A>G
NM_000515.3:c.291+2T>C
NM_000515.4:c.291+2T>C

Note:

NCBI staff reviewed the sequence information reported in PubMed 12574219 Fig. 3 to determine the location of this allele on the current reference sequence.

Nucleotide change:

IVS3DS, T-C, +2

Links:

OMIM: 139250.0019; dbSNP: rs863223310

NCBI 1000 Genomes Browser:

rs863223310

Molecular consequence:

NM_022560.4:c.172-91T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000515.5:c.291+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_022559.4:c.246+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037622	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037622

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2003)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A novel IVS2 -2A>T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population.

Fofanova OV, Evgrafov OV, Polyakov AV, Poltaraus AB, Peterkova VA, Dedov II.

J Clin Endocrinol Metab. 2003 Feb;88(2):820-6.

PubMed [citation]

PMID:: 12574219

Details of each submission

From OMIM, SCV000037622.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the splice site mutation in the GH1 gene (IVS3+2T-C) that was found in children with isolated growth hormone deficiency type II (IGHD2; 173100) by Fofanova et al. (2003), see 139250.0018.

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

Last Updated: May 7, 2024

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