rs2839671
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001134366.2(GAD2):c.76+8G>A variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.188 in 1,604,314 control chromosomes in the GnomAD database, including 29,961 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001134366.2 splice_region, intron
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 |
---|---|---|---|---|---|---|---|
GAD2 | NM_001134366.2 | c.76+8G>A | splice_region_variant, intron_variant | ENST00000376261.8 | |||
GAD2 | NM_000818.3 | c.76+8G>A | splice_region_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GAD2 | ENST00000376261.8 | c.76+8G>A | splice_region_variant, intron_variant | 1 | NM_001134366.2 | P1 | |||
GAD2 | ENST00000259271.7 | c.76+8G>A | splice_region_variant, intron_variant | 1 | P1 | ||||
GAD2 | ENST00000428517.2 | c.76+8G>A | splice_region_variant, intron_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.206 AC: 31352AN: 152096Hom.: 3483 Cov.: 33
GnomAD3 exomes AF: 0.197 AC: 47280AN: 240218Hom.: 4927 AF XY: 0.197 AC XY: 25674AN XY: 130528
GnomAD4 exome AF: 0.186 AC: 270054AN: 1452100Hom.: 26474 Cov.: 30 AF XY: 0.187 AC XY: 135236AN XY: 722154
GnomAD4 genome ? AF: 0.206 AC: 31378AN: 152214Hom.: 3487 Cov.: 33 AF XY: 0.208 AC XY: 15446AN XY: 74422
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at