NM_002055.5(GFAP):c.739T>C (p.Ser247Pro) 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:: RCV000192140.10

Allele description [Variation Report for NM_002055.5(GFAP):c.739T>C (p.Ser247Pro)]

NM_002055.5(GFAP):c.739T>C (p.Ser247Pro)

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.739T>C (p.Ser247Pro)

HGVS:

NC_000017.11:g.44913310A>G
NG_008401.1:g.7237T>C
NM_001131019.3:c.739T>C
NM_001242376.3:c.739T>C
NM_001363846.2:c.739T>C
NM_002055.5:c.739T>CMANE SELECT
NP_001124491.1:p.Ser247Pro
NP_001229305.1:p.Ser247Pro
NP_001350775.1:p.Ser247Pro
NP_002046.1:p.Ser247Pro
NC_000017.10:g.42990678A>G
NM_002055.4:c.739T>C

Protein change:

S247P

Links:

dbSNP: rs267607519

NCBI 1000 Genomes Browser:

rs267607519

Molecular consequence:

NM_001131019.3:c.739T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001242376.3:c.739T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001363846.2:c.739T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002055.5:c.739T>C - 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
SCV000223003	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

SCV000223003

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

Citations

PubMed

Archetypal and new families with Alexander disease and novel mutations in GFAP.

Messing A, Li R, Naidu S, Taylor JP, Silverman L, Flint D, van der Knaap MS, Brenner M.

Arch Neurol. 2012 Feb;69(2):208-14. doi: 10.1001/archneurol.2011.1181. Epub 2011 Oct 10. Erratum in: Arch Neurol. 2012 May;69(5):643.

PubMed [citation]

PMID:: 21987397
PMCID:: PMC3574575

Details of each submission

From GeneReviews, SCV000223003.2

#	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: Apr 20, 2024

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