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NM_002055.5(GFAP):c.230A>G (p.Asn77Ser) AND Alexander disease

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Feb 5, 2020
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:
RCV000192107.12

Allele description [Variation Report for NM_002055.5(GFAP):c.230A>G (p.Asn77Ser)]

NM_002055.5(GFAP):c.230A>G (p.Asn77Ser)

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.230A>G (p.Asn77Ser)
HGVS:
  • NC_000017.11:g.44915257T>C
  • NG_008401.1:g.5290A>G
  • NM_001131019.3:c.230A>G
  • NM_001242376.3:c.230A>G
  • NM_001363846.2:c.230A>G
  • NM_002055.5:c.230A>GMANE SELECT
  • NP_001124491.1:p.Asn77Ser
  • NP_001229305.1:p.Asn77Ser
  • NP_001350775.1:p.Asn77Ser
  • NP_002046.1:p.Asn77Ser
  • NC_000017.10:g.42992625T>C
  • NM_001242376.1:c.230A>G
  • NM_002055.4:c.230A>G
  • P14136:p.Asn77Ser
Protein change:
N77S
Links:
UniProtKB: P14136#VAR_071528; dbSNP: rs57590980
NCBI 1000 Genomes Browser:
rs57590980
Molecular consequence:
  • NM_001131019.3:c.230A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242376.3:c.230A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363846.2:c.230A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002055.5:c.230A>G - 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
SCV000222963GeneReviews
no classification provided
not providedgermlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

SCV001469164Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
no assertion criteria provided
Pathogenic
(Feb 5, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.

Caroli F, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M.

Clin Genet. 2007 Nov;72(5):427-33. Epub 2007 Sep 25.

PubMed [citation]
PMID:
17894839

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.

Li R, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.

Ann Neurol. 2005 Mar;57(3):310-26.

PubMed [citation]
PMID:
15732097

Details of each submission

From GeneReviews, SCV000222963.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV001469164.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024