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NM_000515.5(GH1):c.11-8C>T AND Ateleiotic dwarfism

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 14, 2022
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:
RCV002308491.2

Allele description [Variation Report for NM_000515.5(GH1):c.11-8C>T]

NM_000515.5(GH1):c.11-8C>T

Genes:
CSHL1:chorionic somatomammotropin hormone like 1 [Gene - OMIM - HGNC]
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.11-8C>T
HGVS:
  • NC_000017.11:g.63918514G>A
  • NG_011676.1:g.5325C>T
  • NG_042788.1:g.1422G>A
  • NM_000515.5:c.11-8C>TMANE SELECT
  • NM_022559.4:c.11-8C>T
  • NM_022560.4:c.11-8C>T
  • NC_000017.10:g.61995874G>A
Molecular consequence:
  • NM_000515.5:c.11-8C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022559.4:c.11-8C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022560.4:c.11-8C>T - intron variant - [Sequence Ontology: SO:0001627]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002600230Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 14, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV002600230.1

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

Last Updated: Sep 29, 2024