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NM_198407.2(GHSR):c.367A>G (p.Ser123Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 14, 2023
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:
RCV003490901.1

Allele description [Variation Report for NM_198407.2(GHSR):c.367A>G (p.Ser123Gly)]

NM_198407.2(GHSR):c.367A>G (p.Ser123Gly)

Gene:
GHSR:growth hormone secretagogue receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q26.31
Genomic location:
Preferred name:
NM_198407.2(GHSR):c.367A>G (p.Ser123Gly)
HGVS:
  • NC_000003.12:g.172448047T>C
  • NG_021159.1:g.5410A>G
  • NG_101119.1:g.533T>C
  • NM_004122.2:c.367A>G
  • NM_198407.2:c.367A>GMANE SELECT
  • NP_004113.1:p.Ser123Gly
  • NP_940799.1:p.Ser123Gly
  • NC_000003.11:g.172165837T>C
Protein change:
S123G
Molecular consequence:
  • NM_004122.2:c.367A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198407.2:c.367A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004241514Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Dec 14, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004241514.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: GHSR c.367A>G (p.Ser123Gly) results in a non-conservative amino acid change located in the GPCR, rhodopsin-like, 7TM domain (IPR017452) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 250766 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.367A>G in individuals affected with Short Stature Due To Growth Hormone Secretagogue Receptor Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 14, 2024