NM_000171.4(GLRA1):c.862G>A (p.Val288Met) AND Hyperekplexia 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Oct 4, 2012
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000017448.26

Allele description [Variation Report for NM_000171.4(GLRA1):c.862G>A (p.Val288Met)]

NM_000171.4(GLRA1):c.862G>A (p.Val288Met)

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.862G>A (p.Val288Met)

Other names:

V260M

HGVS:

NC_000005.10:g.151851440C>T
NG_011764.1:g.78397G>A
NM_000171.4:c.862G>AMANE SELECT
NM_001146040.2:c.862G>A
NM_001292000.2:c.613G>A
NP_000162.2:p.Val288Met
NP_001139512.1:p.Val288Met
NP_001278929.1:p.Val205Met
NC_000005.9:g.151231001C>T
NM_000171.3:c.862G>A

Nucleotide change:

G1158A

Protein change:

V205M; VAL260MET

Links:

OMIM: 138491.0011; dbSNP: rs121918416

NCBI 1000 Genomes Browser:

rs121918416

Molecular consequence:

NM_000171.4:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001146040.2:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001292000.2:c.613G>A - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037720	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2001)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000054507	GeneReviews	no assertion criteria provided	pathologic (Oct 4, 2012)	not provided	curation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037720

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 2001)

germline

literature only

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

SCV000054507

GeneReviews

no assertion criteria provided

pathologic
(Oct 4, 2012)

not provided

curation

Help

Summary from all submissions

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

Citations

PubMed

A mutation (V260M) in the middle of the M2 pore-lining domain of the glycine receptor causes hereditary hyperekplexia.

del Giudice EM, Coppola G, Bellini G, Cirillo G, Scuccimarra G, Pascotto A.

Eur J Hum Genet. 2001 Nov;9(11):873-6.

PubMed [citation]

PMID:: 11781706

Details of each submission

From OMIM, SCV000037720.2

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

Description

Del Giudice et al. (2001) identified an 1158G-A transition in exon 6 of the GLRA1 gene in an Italian family with hyperekplexia (HKPX1; 149400). The mutation was present in heterozygous state in the index patient, a 12-month-old boy with muscular hypertonia and exaggerated startle response, and in his father who had suffered from abnormal startle responses and 'a sort of rigidity' during early infancy. The mutation resulted in a val260-to-met (V260M) substitution near the center of the highly conserved M2 transmembrane domain of the mature polypeptide. The location suggested a role in altering ion channel properties. The mutation was not found in 150 Italian controls.

#	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 GeneReviews, SCV000054507.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

Converted during submission to Pathogenic.

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

Last Updated: Oct 13, 2024

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