NM_002055.5(GFAP):c.262C>A (p.Arg88Ser) AND Alexander disease

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Nov 1, 2001
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:: RCV000017556.37

Allele description [Variation Report for NM_002055.5(GFAP):c.262C>A (p.Arg88Ser)]

NM_002055.5(GFAP):c.262C>A (p.Arg88Ser)

Gene:

GFAP:glial fibrillary acidic protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_002055.5(GFAP):c.262C>A (p.Arg88Ser)

HGVS:

NC_000017.11:g.44915225G>T
NG_008401.1:g.5322C>A
NM_001131019.3:c.262C>A
NM_001242376.3:c.262C>A
NM_001363846.2:c.262C>A
NM_002055.5:c.262C>AMANE SELECT
NP_001124491.1:p.Arg88Ser
NP_001229305.1:p.Arg88Ser
NP_001350775.1:p.Arg88Ser
NP_002046.1:p.Arg88Ser
NC_000017.10:g.42992593G>T
NM_002055.4:c.262C>A
P14136:p.Arg88Ser

Protein change:

R88S; ARG88SER

Links:

UniProtKB: P14136#VAR_017470; OMIM: 137780.0007; dbSNP: rs61622935

NCBI 1000 Genomes Browser:

rs61622935

Molecular consequence:

NM_001131019.3:c.262C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001242376.3:c.262C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001363846.2:c.262C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002055.5:c.262C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Alexander disease (ALXDRD)
Synonyms:: Alexanders leukodystrophy; Megalencephaly in infancy accompanied by progressive spasticity and dementia; Alexander's disease
Identifiers:: MONDO: MONDO:0008752; MedGen: C0270726; Orphanet: 58; OMIM: 203450

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037828	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2001)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000222980	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037828

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 2001)

germline

literature only

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

SCV000222980

GeneReviews

no classification provided

not provided

germline

literature only

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	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.

Rodriguez D, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G, Pham-Dinh D, Dautigny A, Boespflug-Tanguy O.

Am J Hum Genet. 2001 Nov;69(5):1134-40. Epub 2001 Sep 20. Erratum in: Am J Hum Genet 2001 Dec;69(6):1413.

PubMed [citation]

PMID:: 11567214
PMCID:: PMC1274357

Details of each submission

From OMIM, SCV000037828.2

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

Description

In a patient with Alexander disease (ALXDRD; 203450), Rodriguez et al. (2001) found an arg88-to-ser (R88S) missense mutation in heterozygous state in the GFAP gene.

#	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, SCV000222980.2

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

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

Last Updated: Oct 13, 2024

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