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NM_002055.5(GFAP):c.989G>C (p.Arg330Pro) AND Alexander disease

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 4, 2016
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:
RCV000625961.2

Allele description [Variation Report for NM_002055.5(GFAP):c.989G>C (p.Arg330Pro)]

NM_002055.5(GFAP):c.989G>C (p.Arg330Pro)

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.989G>C (p.Arg330Pro)
HGVS:
  • NC_000017.11:g.44911374C>G
  • NG_008401.1:g.9173G>C
  • NM_001131019.3:c.989G>C
  • NM_001242376.3:c.989G>C
  • NM_001363846.2:c.989G>C
  • NM_002055.5:c.989G>CMANE SELECT
  • NP_001124491.1:p.Arg330Pro
  • NP_001229305.1:p.Arg330Pro
  • NP_001350775.1:p.Arg330Pro
  • NP_002046.1:p.Arg330Pro
  • NC_000017.10:g.42988742C>G
  • NM_002055.4:c.989G>C
  • p.R330P
Protein change:
R330P
Links:
dbSNP: rs983143417
NCBI 1000 Genomes Browser:
rs983143417
Molecular consequence:
  • NM_001131019.3:c.989G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242376.3:c.989G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363846.2:c.989G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002055.5:c.989G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000746559Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Apr 4, 2016)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Whiteunknownyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV000746559.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1White1not providednot providedclinical testing
(GTR000553916.1)
PubMed (1)

Description

Most of our patient's neurological phenotype can be explained by the diagnosis of Alexander disease. There is one reported patient in the literature with Alexander disease who also had a pilocytic astrocytoma. However, her pigmentary retinopathy cannot be explained by this diagnosis. Awaiting further research into RP genes to determine etiology of RP.

Description

This VUS was found in a 34-year-old female with retinitis pigmentosa (thought to be unrelated to this finding), left-sided hemidystonia, hemiplegia, truncal and axial dystonia, left-sided muscle atrophy, brain tumors, constipation and functional megacolon, macrocephaly, poor dentition, mild scoliosis, hyperpigmented macules on forearms and seborrhea of the scalp. This individual has been reported in PMID: 30046660.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided
(GTR000553916.1)
1not providednot providednot provided

Last Updated: Aug 15, 2022