NM_000823.3(GHRHR):c.366+13T>G AND Idiopathic growth hormone deficiency

Clinical significance:Benign (Last evaluated: Aug 18, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000029938.1

Allele description [Variation Report for NM_000823.3(GHRHR):c.366+13T>G]

NM_000823.3(GHRHR):c.366+13T>G

Gene:
GHRHR:growth hormone releasing hormone receptor [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
7p14.3
Genomic location:
Preferred name:
NM_000823.3(GHRHR):c.366+13T>G
HGVS:
  • NC_000007.14:g.30969977T>G
  • NG_021416.1:g.10957T>G
  • NM_000823.3:c.366+13T>G
  • NC_000007.13:g.31009592T>G
Links:
dbSNP: 4988499
GMAF:
0.0617(G), 4988499
NCBI 1000 Genomes Browser:
rs4988499
Allele Frequency:
0.0533, GO-ESP
Molecular consequence:
  • NM_000823.3:c.366+13T>G - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Idiopathic growth hormone deficiency (IGHD)
Synonyms:
Growth hormone deficiency; Idiopathic Growth Hormone Deficiency
Identifiers:
MedGen: C0342381

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000052593LabCorpcriteria provided, single submitter
(LabCorp Variant Classification Summary - May 2015)
benign
(Aug 18, 2011)
germlinecuration, clinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedliterature only
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From LabCorp, SCV000052593.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
2not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 2

Co-occurrences

#ZygosityAllelesNumber of Observations
2SingleHeterozygoteGHRHR:c.564C>T, SHOX:c.277+17T>G, SHOX:c.15051G>A1

Last Updated: Jun 26, 2015