NM_002055.5(GFAP):c.772C>T (p.Arg258Cys) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002472960.9

Allele description [Variation Report for NM_002055.5(GFAP):c.772C>T (p.Arg258Cys)]

NM_002055.5(GFAP):c.772C>T (p.Arg258Cys)

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.772C>T (p.Arg258Cys)

HGVS:

NC_000017.11:g.44913277G>A
NG_008401.1:g.7270C>T
NM_001131019.3:c.772C>T
NM_001242376.3:c.772C>T
NM_001363846.2:c.772C>T
NM_002055.5:c.772C>TMANE SELECT
NP_001124491.1:p.Arg258Cys
NP_001229305.1:p.Arg258Cys
NP_001350775.1:p.Arg258Cys
NP_002046.1:p.Arg258Cys
NC_000017.10:g.42990645G>A
NM_002055.4:c.772C>T

Protein change:

R258C

Links:

dbSNP: rs797044578

NCBI 1000 Genomes Browser:

rs797044578

Molecular consequence:

NM_001131019.3:c.772C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001242376.3:c.772C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001363846.2:c.772C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_002055.5:c.772C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002770684	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (Feb 1, 2022)	unknown	clinical testing	PubMed (9) [See all records that cite these PMIDs] 23925719, 21533827, 30213442, 19672978, 20849398, 29431177, 31611638, 34245630, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002770684

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Pathogenic
(Feb 1, 2022)

unknown

clinical testing

PubMed (9)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Autonomic dysfunction in adult-onset alexander disease: a case report and review of the literature.

Spritzer SD, Zarkou S, Ireland SP, Carter JL, Goodman BP.

Clin Auton Res. 2013 Dec;23(6):333-8. doi: 10.1007/s10286-013-0205-y. Epub 2013 Aug 8. Review.

PubMed [citation]

PMID:: 23925719

Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.

Yoshida T, Sasaki M, Yoshida M, Namekawa M, Okamoto Y, Tsujino S, Sasayama H, Mizuta I, Nakagawa M; Alexander Disease Study Group in Japan..

J Neurol. 2011 Nov;258(11):1998-2008. doi: 10.1007/s00415-011-6056-3. Epub 2011 May 1.

PubMed [citation]

PMID:: 21533827

See all PubMed Citations (9)

Details of each submission

From Athena Diagnostics, SCV002770684.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

Description

This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in multiple unrelated individuals with clinical features associated with this gene, including at least one apparent de novo. Assessment of experimental evidence suggests this variant results in abnormal protein function. This variant showed protein aggregate formation in vitro in multiple human cell types (PMID: 30213442).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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