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NM_002055.5(GFAP):c.13C>T (p.Arg5Cys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 2021
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:
RCV002764154.2

Allele description [Variation Report for NM_002055.5(GFAP):c.13C>T (p.Arg5Cys)]

NM_002055.5(GFAP):c.13C>T (p.Arg5Cys)

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.13C>T (p.Arg5Cys)
HGVS:
  • NC_000017.11:g.44915474G>A
  • NG_008401.1:g.5073C>T
  • NG_008401.2:g.5026C>T
  • NM_001131019.3:c.13C>T
  • NM_001242376.3:c.13C>T
  • NM_001363846.2:c.13C>T
  • NM_002055.5:c.13C>TMANE SELECT
  • NP_001124491.1:p.Arg5Cys
  • NP_001229305.1:p.Arg5Cys
  • NP_001350775.1:p.Arg5Cys
  • NP_002046.1:p.Arg5Cys
  • NC_000017.10:g.42992842G>A
  • NM_002055.4:c.13C>T
Protein change:
R5C
Molecular consequence:
  • NM_001131019.3:c.13C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242376.3:c.13C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363846.2:c.13C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002055.5:c.13C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003746214Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 14, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003746214.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.13C>T (p.R5C) alteration is located in exon 1 (coding exon 1) of the GFAP gene. This alteration results from a C to T substitution at nucleotide position 13, causing the arginine (R) at amino acid position 5 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024