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NM_002055.5(GFAP):c.1091C>T (p.Ala364Val) AND Alexander disease

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000192166.10

Allele description [Variation Report for NM_002055.5(GFAP):c.1091C>T (p.Ala364Val)]

NM_002055.5(GFAP):c.1091C>T (p.Ala364Val)

Genes:
LOC130060994:ATAC-STARR-seq lymphoblastoid active region 12266 [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.1091C>T (p.Ala364Val)
HGVS:
  • NC_000017.11:g.44911272G>A
  • NG_008401.1:g.9275C>T
  • NM_001131019.3:c.1091C>T
  • NM_001242376.3:c.1091C>T
  • NM_001363846.2:c.1091C>T
  • NM_002055.5:c.1091C>TMANE SELECT
  • NP_001124491.1:p.Ala364Val
  • NP_001229305.1:p.Ala364Val
  • NP_001350775.1:p.Ala364Val
  • NP_002046.1:p.Ala364Val
  • NC_000017.10:g.42988640G>A
  • NM_002055.4:c.1091C>T
Protein change:
A364V
Links:
dbSNP: rs267607503
NCBI 1000 Genomes Browser:
rs267607503
Molecular consequence:
  • NM_001131019.3:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242376.3:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363846.2:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002055.5:c.1091C>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000223032GeneReviews
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Novel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease.

Hartmann H, Herchenbach J, Stephani U, Ledaal P, Donnerstag F, Lücke T, Das AM, Christen HJ, Hagedorn M, Meins M.

Neuropediatrics. 2007 Jun;38(3):143-7.

PubMed [citation]
PMID:
17985264

Details of each submission

From GeneReviews, SCV000223032.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024