chr2-170815568-C-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000663207.1(ENSG00000235934):n.1256G>C variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.285 in 152,002 control chromosomes in the GnomAD database, including 6,993 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GAD1 | XM_011510922.1 | c.-64+2146C>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000663207.1 | n.1256G>C | non_coding_transcript_exon_variant | 2/2 | ||||||
GAD1 | ENST00000454603.5 | c.-64+2146C>G | intron_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.284 AC: 43205AN: 151884Hom.: 6985 Cov.: 31
GnomAD4 genome AF: 0.285 AC: 43245AN: 152002Hom.: 6993 Cov.: 31 AF XY: 0.288 AC XY: 21413AN XY: 74298
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at