NM_002055.5(GFAP):c.1178G>T (p.Ser393Ile) AND Alexander Disease

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 8, 2015
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:: RCV000192182.1

Allele description

NM_002055.5(GFAP):c.1178G>T (p.Ser393Ile)

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.1178G>T (p.Ser393Ile)

HGVS:

NC_000017.11:g.44908143C>A
NG_008401.1:g.12404G>T
NM_001363846.2:c.1298G>T
NM_002055.5:c.1178G>TMANE SELECT
NP_001350775.1:p.Ser433Ile
NP_002046.1:p.Ser393Ile
NC_000017.10:g.42985511C>A
NM_002055.4:c.1178G>T

Protein change:

S393I

Links:

dbSNP: rs62635764

NCBI 1000 Genomes Browser:

rs62635764

Molecular consequence:

NM_001363846.2:c.1298G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_002055.5:c.1178G>T - 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
SCV000223048	GeneReviews	no assertion criteria provided	Pathogenic (Jan 8, 2015)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 17703343, 18388212, 18684770 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000223048

GeneReviews

no assertion criteria provided

Pathogenic
(Jan 8, 2015)

germline

literature only

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

A novel mutation in the GFAP gene in a familial adult onset Alexander disease.

Salmaggi A, Botturi A, Lamperti E, Grisoli M, Fischetto R, Ceccherini I, Caroli F, Boiardi A.

J Neurol. 2007 Sep;254(9):1278-80. Epub 2007 Aug 16. No abstract available.

PubMed [citation]

PMID:: 17703343

Can MR imaging diagnose adult-onset Alexander disease?

Farina L, Pareyson D, Minati L, Ceccherini I, Chiapparini L, Romano S, Gambaro P, Fancellu R, Savoiardo M.

AJNR Am J Neuroradiol. 2008 Jun;29(6):1190-6. doi: 10.3174/ajnr.A1060. Epub 2008 Apr 3.

PubMed [citation]

PMID:: 18388212
PMCID:: PMC8118843

See all PubMed Citations (3)

Details of each submission

From GeneReviews, SCV000223048.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

#	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: Mar 19, 2022

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