2-170818626-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP2BS1_Supporting
The NM_000817.3(GAD1):āc.35C>Gā(p.Ser12Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000198 in 1,614,076 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S12T) has been classified as Uncertain significance.
Frequency
Consequence
NM_000817.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GAD1 | NM_000817.3 | c.35C>G | p.Ser12Cys | missense_variant | 2/17 | ENST00000358196.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GAD1 | ENST00000358196.8 | c.35C>G | p.Ser12Cys | missense_variant | 2/17 | 1 | NM_000817.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152192Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251302Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135854
GnomAD4 exome AF: 0.0000212 AC: 31AN: 1461884Hom.: 0 Cov.: 31 AF XY: 0.0000316 AC XY: 23AN XY: 727240
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152192Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74346
ClinVar
Submissions by phenotype
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities Uncertain:1
Uncertain significance, no assertion criteria provided | literature only | OMIM | Nov 30, 2004 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at