NM_000171.4(GLRA1):c.523A>G (p.Met175Val) AND Hyperekplexia 1

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Feb 24, 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:: RCV000017446.30

Allele description [Variation Report for NM_000171.4(GLRA1):c.523A>G (p.Met175Val)]

NM_000171.4(GLRA1):c.523A>G (p.Met175Val)

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.523A>G (p.Met175Val)

Other names:

M147V

HGVS:

NC_000005.10:g.151856337T>C
NG_011764.1:g.73500A>G
NM_000171.4:c.523A>GMANE SELECT
NM_001146040.2:c.523A>G
NM_001292000.2:c.274A>G
NP_000162.2:p.Met175Val
NP_001139512.1:p.Met175Val
NP_001278929.1:p.Met92Val
NC_000005.9:g.151235898T>C
NM_000171.3:c.523A>G

Protein change:

M175V; MET147VAL

Links:

OMIM: 138491.0009; dbSNP: rs121918414

NCBI 1000 Genomes Browser:

rs121918414

Molecular consequence:

NM_000171.4:c.523A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001146040.2:c.523A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001292000.2:c.274A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hyperekplexia 1 (STHE)
Synonyms:: Startle disease, familial; Startle reaction, exaggerated; Stiff-baby syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007868; MedGen: C4551954; Orphanet: 3197; OMIM: 149400

Recent activity

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SRX20546163 (1)
SRA
PREDICTED: Homo sapiens butyrophilin like 9 (BTNL9), transcript variant X4, mRNA
PREDICTED: Homo sapiens butyrophilin like 9 (BTNL9), transcript variant X4, mRNA
gi|2462600915|ref|XM_054351807.1|

Nucleotide
protein 4.1 isoform X35 [Homo sapiens]
protein 4.1 isoform X35 [Homo sapiens]
gi|2462505918|ref|XP_054190994.1|

Protein
DB339610 TESTI4 Homo sapiens cDNA clone TESTI4005911 3', mRNA sequence
DB339610 TESTI4 Homo sapiens cDNA clone TESTI4005911 3', mRNA sequence
gi|83175650|gnl|dbEST|34290935|dbj| 610.1|

Nucleotide
Muroidea Fv1 restriction factor (Fv1) gene, complete cds.
Muroidea Fv1 restriction factor (Fv1) gene, complete cds.
PopSet: 1409677205

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037718	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 2001)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV003816905	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 24, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037718

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 2001)

germline

literature only

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

SCV003816905

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 24, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia.

Rees MI, Lewis TM, Vafa B, Ferrie C, Corry P, Muntoni F, Jungbluth H, Stephenson JB, Kerr M, Snell RG, Schofield PR, Owen MJ.

Hum Genet. 2001 Sep;109(3):267-70.

PubMed [citation]

PMID:: 11702206

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 OMIM, SCV000037718.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the met147-to-val (M147V) mutation in the GLRA1 gene that was found in compound heterozygous state in a sporadic case of hyperekplexia (HKPX1; 149400) by Rees et al. (2001), see 138491.0008.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV003816905.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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