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NM_002055.5(GFAP):c.1171+472G>A 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:
RCV000192190.11

Allele description [Variation Report for NM_002055.5(GFAP):c.1171+472G>A]

NM_002055.5(GFAP):c.1171+472G>A

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.1171+472G>A
HGVS:
  • NC_000017.11:g.44910143C>T
  • NG_008401.1:g.10404G>A
  • NM_001131019.3:c.1289G>A
  • NM_001242376.3:c.*326G>A
  • NM_001363846.2:c.1289G>A
  • NM_002055.5:c.1171+472G>AMANE SELECT
  • NP_001124491.1:p.Arg430His
  • NP_001350775.1:p.Arg430His
  • NC_000017.10:g.42987511C>T
  • NM_001131019.2:c.1289G>A
  • NM_002055.4:c.1171+472G>A
Protein change:
R430H
Links:
dbSNP: rs748860341
NCBI 1000 Genomes Browser:
rs748860341
Molecular consequence:
  • NM_001242376.3:c.*326G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_002055.5:c.1171+472G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001131019.3:c.1289G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363846.2:c.1289G>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000223057GeneReviews
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.

Melchionda L, Fang M, Wang H, Fugnanesi V, Morbin M, Liu X, Li W, Ceccherini I, Farina L, Savoiardo M, D'Adamo P, Zhang J, Costa A, Ravaglia S, Ghezzi D, Zeviani M.

Orphanet J Rare Dis. 2013 May 1;8:66. doi: 10.1186/1750-1172-8-66.

PubMed [citation]
PMID:
23634874
PMCID:
PMC3654953

c.1289G>A (p.Arg430His) variant in the epsilon isoform of the GFAP gene in a patient with adult onset Alexander disease.

Karp N, Lee D, Shickh S, Jenkins ME.

Eur J Med Genet. 2019 Apr;62(4):235-238. doi: 10.1016/j.ejmg.2018.07.020. Epub 2018 Jul 23.

PubMed [citation]
PMID:
30048824
See all PubMed Citations (3)

Details of each submission

From GeneReviews, SCV000223057.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024