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NM_002055.5(GFAP):c.934G>A (p.Glu312Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 8, 2024
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:
RCV003230712.2

Allele description [Variation Report for NM_002055.5(GFAP):c.934G>A (p.Glu312Lys)]

NM_002055.5(GFAP):c.934G>A (p.Glu312Lys)

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.934G>A (p.Glu312Lys)
HGVS:
  • NC_000017.11:g.44911429C>T
  • NG_008401.1:g.9118G>A
  • NM_001131019.3:c.934G>A
  • NM_001242376.3:c.934G>A
  • NM_001363846.2:c.934G>A
  • NM_002055.4:c.934G>A
  • NM_002055.5:c.934G>AMANE SELECT
  • NP_001124491.1:p.Glu312Lys
  • NP_001229305.1:p.Glu312Lys
  • NP_001350775.1:p.Glu312Lys
  • NP_002046.1:p.Glu312Lys
  • NC_000017.10:g.42988797C>T
  • NM_002055.5:c.934G>A
Protein change:
E312K
Links:
dbSNP: rs763868966
NCBI 1000 Genomes Browser:
rs763868966
Molecular consequence:
  • NM_001131019.3:c.934G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242376.3:c.934G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363846.2:c.934G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002055.5:c.934G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003929273Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Apr 8, 2024) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Alexander Disease: A Novel Mutation in GFAP Leading to Epilepsia Partialis Continua.

Bonthius DJ, Karacay B.

J Child Neurol. 2016 Jun;31(7):869-72. doi: 10.1177/0883073815624762. Epub 2015 Dec 29.

PubMed [citation]
PMID:
26719496
PMCID:
PMC4865433

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003929273.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant summary: GFAP c.934G>A (p.Glu312Lys) results in a conservative amino acid change located in the Intermediate filament, rod domain (IPR039008) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-05 in 248618 control chromosomes (gnomAD). c.934G>A has been reported in the literature in an individual affected with Alexander Disease as a de novo variant (Bonthius_2016). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 26719496). ClinVar contains an entry for this variant (Variation ID: 1406033). Based on the evidence outlined above, the variant was classified as uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024