rs797044588
Variant summary
Our verdict is Pathogenic. Variant got 11 ACMG points: 11P and 0B. PM1PM2PM5PP3_StrongPP5
The NM_002055.5(GFAP):c.1085A>G(p.Glu362Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E362D) has been classified as Pathogenic.
Frequency
Consequence
NM_002055.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GFAP | NM_002055.5 | c.1085A>G | p.Glu362Gly | missense_variant | 6/9 | ENST00000588735.3 | |
GFAP | NM_001363846.2 | c.1085A>G | p.Glu362Gly | missense_variant | 6/10 | ||
GFAP | NM_001242376.3 | c.1085A>G | p.Glu362Gly | missense_variant | 6/7 | ||
GFAP | NM_001131019.3 | c.1085A>G | p.Glu362Gly | missense_variant | 6/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GFAP | ENST00000588735.3 | c.1085A>G | p.Glu362Gly | missense_variant | 6/9 | 1 | NM_002055.5 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Alexander disease Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | GeneReviews | Jan 08, 2015 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at