rs121909719
Variant summary
Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PM1PM2PP3_StrongPP5
The NM_002055.5(GFAP):c.827G>T(p.Arg276Leu) 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. R276C) has been classified as Uncertain significance.
Frequency
Consequence
NM_002055.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GFAP | NM_002055.5 | c.827G>T | p.Arg276Leu | missense_variant | 5/9 | ENST00000588735.3 | |
GFAP | NM_001363846.2 | c.827G>T | p.Arg276Leu | missense_variant | 5/10 | ||
GFAP | NM_001242376.3 | c.827G>T | p.Arg276Leu | missense_variant | 5/7 | ||
GFAP | NM_001131019.3 | c.827G>T | p.Arg276Leu | missense_variant | 5/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GFAP | ENST00000588735.3 | c.827G>T | p.Arg276Leu | missense_variant | 5/9 | 1 | NM_002055.5 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Alexander disease Pathogenic:1Other:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Dec 01, 2002 | - - |
not provided, no classification provided | literature only | GeneReviews | - | - - |
not provided Other:1
not provided, no classification provided | literature only | Epithelial Biology; Institute of Medical Biology, Singapore | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at