rs1126642
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 2P and 20B. PM1BP4_StrongBP6_Very_StrongBA1
The NM_002055.5(GFAP):c.883G>A(p.Asp295Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0421 in 1,613,504 control chromosomes in the GnomAD database, including 1,847 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_002055.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GFAP | NM_002055.5 | c.883G>A | p.Asp295Asn | missense_variant | 5/9 | ENST00000588735.3 | |
GFAP | NM_001363846.2 | c.883G>A | p.Asp295Asn | missense_variant | 5/10 | ||
GFAP | NM_001242376.3 | c.883G>A | p.Asp295Asn | missense_variant | 5/7 | ||
GFAP | NM_001131019.3 | c.883G>A | p.Asp295Asn | missense_variant | 5/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GFAP | ENST00000588735.3 | c.883G>A | p.Asp295Asn | missense_variant | 5/9 | 1 | NM_002055.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0356 AC: 5419AN: 152234Hom.: 147 Cov.: 33
GnomAD3 exomes AF: 0.0454 AC: 11291AN: 248574Hom.: 391 AF XY: 0.0458 AC XY: 6161AN XY: 134604
GnomAD4 exome AF: 0.0428 AC: 62509AN: 1461152Hom.: 1695 Cov.: 33 AF XY: 0.0428 AC XY: 31148AN XY: 726966
GnomAD4 genome ? AF: 0.0356 AC: 5428AN: 152352Hom.: 152 Cov.: 33 AF XY: 0.0349 AC XY: 2603AN XY: 74498
ClinVar
Submissions by phenotype
not provided Benign:4Other:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Mar 03, 2015 | - - |
Benign, no assertion criteria provided | clinical testing | Mayo Clinic Laboratories, Mayo Clinic | Oct 26, 2015 | - - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
not provided, no classification provided | literature only | Epithelial Biology; Institute of Medical Biology, Singapore | - | - - |
Benign, criteria provided, single submitter | clinical testing | Athena Diagnostics | Sep 14, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at