rs9916491
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001363846.2(GFAP):c.1276A>T(p.Thr426Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,588 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/16 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T426A) has been classified as Benign.
Frequency
Consequence
NM_001363846.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GFAP | NM_002055.5 | c.1171+459A>T | intron_variant | Intron 7 of 8 | ENST00000588735.3 | NP_002046.1 | ||
GFAP | NM_001363846.2 | c.1276A>T | p.Thr426Ser | missense_variant | Exon 8 of 10 | NP_001350775.1 | ||
GFAP | NM_001131019.3 | c.1276A>T | p.Thr426Ser | missense_variant | Exon 8 of 8 | NP_001124491.1 | ||
GFAP | NM_001242376.3 | c.*313A>T | 3_prime_UTR_variant | Exon 7 of 7 | NP_001229305.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461588Hom.: 0 Cov.: 35 AF XY: 0.00000138 AC XY: 1AN XY: 727088
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.