rs147282497
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_ModerateBP6BS1BS2
The NM_002055.5(GFAP):āc.329C>Gā(p.Thr110Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000203 in 1,614,160 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T110A) has been classified as Uncertain significance.
Frequency
Consequence
NM_002055.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GFAP | NM_002055.5 | c.329C>G | p.Thr110Ser | missense_variant | 1/9 | ENST00000588735.3 | |
GFAP | NM_001363846.2 | c.329C>G | p.Thr110Ser | missense_variant | 1/10 | ||
GFAP | NM_001242376.3 | c.329C>G | p.Thr110Ser | missense_variant | 1/7 | ||
GFAP | NM_001131019.3 | c.329C>G | p.Thr110Ser | missense_variant | 1/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GFAP | ENST00000588735.3 | c.329C>G | p.Thr110Ser | missense_variant | 1/9 | 1 | NM_002055.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000223 AC: 34AN: 152212Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000259 AC: 65AN: 251384Hom.: 0 AF XY: 0.000287 AC XY: 39AN XY: 135890
GnomAD4 exome AF: 0.000201 AC: 294AN: 1461832Hom.: 3 Cov.: 31 AF XY: 0.000204 AC XY: 148AN XY: 727226
GnomAD4 genome ? AF: 0.000223 AC: 34AN: 152328Hom.: 1 Cov.: 32 AF XY: 0.000242 AC XY: 18AN XY: 74484
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:4
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jun 01, 2024 | GFAP: BP4, BS1 - |
Likely benign, no assertion criteria provided | clinical testing | Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | - | - - |
Uncertain significance, no assertion criteria provided | clinical testing | Mayo Clinic Laboratories, Mayo Clinic | Oct 26, 2017 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 22, 2024 | - - |
Likely benign, no assertion criteria provided | clinical testing | Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | - | - - |
Alexander disease Uncertain:2
Uncertain significance, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Oct 31, 2018 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | New York Genome Center | Jul 10, 2020 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at