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NM_000515.5(GH1):c.116C>T (p.Ala39Val) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 24, 2021
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:
RCV002502119.1

Allele description [Variation Report for NM_000515.5(GH1):c.116C>T (p.Ala39Val)]

NM_000515.5(GH1):c.116C>T (p.Ala39Val)

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.116C>T (p.Ala39Val)
HGVS:
  • NC_000017.11:g.63918401G>A
  • NG_011676.1:g.5438C>T
  • NG_042788.1:g.1309G>A
  • NM_000515.5:c.116C>TMANE SELECT
  • NM_022559.4:c.116C>T
  • NM_022560.4:c.116C>T
  • NP_000506.2:p.Ala39Val
  • NP_072053.1:p.Ala39Val
  • NP_072054.1:p.Ala39Val
  • NC_000017.10:g.61995761G>A
  • NM_000515.3:c.116C>T
  • NM_000515.4:c.116C>T
Protein change:
A39V
Links:
dbSNP: rs151263636
NCBI 1000 Genomes Browser:
rs151263636
Molecular consequence:
  • NM_000515.5:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022559.4:c.116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022560.4:c.116C>T - 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
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
SCV002810242Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Aug 24, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002810242.1

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

Last Updated: Oct 13, 2024