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NM_000163.5(GHR):c.344A>C (p.Asn115Thr) AND Laron-type isolated somatotropin defect

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 23, 2018
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:
RCV000995550.5

Allele description [Variation Report for NM_000163.5(GHR):c.344A>C (p.Asn115Thr)]

NM_000163.5(GHR):c.344A>C (p.Asn115Thr)

Gene:
GHR:growth hormone receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p12
Genomic location:
Preferred name:
NM_000163.5(GHR):c.344A>C (p.Asn115Thr)
HGVS:
  • NC_000005.10:g.42694994A>C
  • NG_011688.2:g.276071A>C
  • NM_000163.5:c.344A>CMANE SELECT
  • NM_001242399.2:c.365A>C
  • NM_001242400.2:c.344A>C
  • NM_001242401.4:c.344A>C
  • NM_001242402.2:c.344A>C
  • NM_001242403.3:c.344A>C
  • NM_001242404.2:c.344A>C
  • NM_001242405.2:c.344A>C
  • NM_001242406.2:c.344A>C
  • NM_001242460.2:c.278A>C
  • NM_001242462.1:c.344A>C
  • NP_000154.1:p.Asn115Thr
  • NP_001229328.1:p.Asn122Thr
  • NP_001229329.1:p.Asn115Thr
  • NP_001229330.1:p.Asn115Thr
  • NP_001229331.1:p.Asn115Thr
  • NP_001229332.1:p.Asn115Thr
  • NP_001229333.1:p.Asn115Thr
  • NP_001229334.1:p.Asn115Thr
  • NP_001229335.1:p.Asn115Thr
  • NP_001229389.1:p.Asn93Thr
  • NP_001229389.1:p.Asn93Thr
  • NP_001229391.1:p.Asn115Thr
  • NC_000005.9:g.42695096A>C
  • NM_001242460.1:c.278A>C
Protein change:
N115T
Links:
dbSNP: rs1579626395
NCBI 1000 Genomes Browser:
rs1579626395
Molecular consequence:
  • NM_000163.5:c.344A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242399.2:c.365A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242400.2:c.344A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242401.4:c.344A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242402.2:c.344A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242403.3:c.344A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242404.2:c.344A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242405.2:c.344A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242406.2:c.344A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242460.2:c.278A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242462.1:c.344A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Laron-type isolated somatotropin defect
Synonyms:
Laron Syndrome; Growth hormone receptor deficiency; Growth hormone binding protein deficiency or dysfunction; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009877; MedGen: C0271568; Orphanet: 633; OMIM: 262500

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001149781Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Classification criteria August 2017)		Likely pathogenic
(Oct 23, 2018) 		inheritedclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot provided1not providedclinical testing

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV001149781.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyes1bloodnot provided1not providednot providednot provided

Last Updated: Jun 23, 2024