rs572562362
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP6
The NM_002055.5(GFAP):c.462-8del variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000715 in 1,397,690 control chromosomes in the GnomAD database, with no homozygous occurrence. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in Lovd as Likely benign (no stars).
Frequency
Consequence
NM_002055.5 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GFAP | NM_002055.5 | c.462-8del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000588735.3 | |||
GFAP | NM_001131019.3 | c.462-8del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ||||
GFAP | NM_001242376.3 | c.462-8del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ||||
GFAP | NM_001363846.2 | c.462-8del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GFAP | ENST00000588735.3 | c.462-8del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_002055.5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000632 AC: 1AN: 158326Hom.: 0 AF XY: 0.0000120 AC XY: 1AN XY: 83380
GnomAD4 exome AF: 7.15e-7 AC: 1AN: 1397690Hom.: 0 Cov.: 30 AF XY: 0.00000145 AC XY: 1AN XY: 689794
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at