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NM_000171.4(GLRA1):c.89G>A (p.Arg30His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 3, 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:
RCV003323852.2

Allele description [Variation Report for NM_000171.4(GLRA1):c.89G>A (p.Arg30His)]

NM_000171.4(GLRA1):c.89G>A (p.Arg30His)

Gene:
GLRA1:glycine receptor alpha 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q33.1
Genomic location:
Preferred name:
NM_000171.4(GLRA1):c.89G>A (p.Arg30His)
HGVS:
  • NC_000005.10:g.151892406C>T
  • NG_011764.1:g.37431G>A
  • NM_000171.3:c.89G>A
  • NM_000171.4:c.89G>AMANE SELECT
  • NM_001146040.2:c.89G>A
  • NM_001292000.2:c.-65-5618G>A
  • NP_000162.2:p.Arg30His
  • NP_001139512.1:p.Arg30His
  • NC_000005.9:g.151271967C>T
Protein change:
R30H
Links:
dbSNP: rs199910297
NCBI 1000 Genomes Browser:
rs199910297
Molecular consequence:
  • NM_001292000.2:c.-65-5618G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000171.4:c.89G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001146040.2:c.89G>A - 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
SCV004030066Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jul 3, 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, SCV004030066.1

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

Description

Variant summary: GLRA1 c.89G>A (p.Arg30His) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 5.6e-05 in 251036 control chromosomes (gnomAD). To our knowledge, no occurrence of c.89G>A in individuals affected with Hyperekplexia 1 and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely benign. 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: Sep 29, 2024