rs41305896
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The ENST00000662246.1(ITGA2-AS1):n.148+8316A>G variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0308 in 152,318 control chromosomes in the GnomAD database, including 87 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
Consequence
ENST00000662246.1 intron, non_coding_transcript
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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ITGA2-AS1 | ENST00000662246.1 | n.148+8316A>G | intron_variant, non_coding_transcript_variant | ||||||
ITGA2-AS1 | ENST00000503559.1 | n.263-1489A>G | intron_variant, non_coding_transcript_variant | 5 | |||||
ITGA2-AS1 | ENST00000505701.5 | n.263-1489A>G | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.0308 AC: 4686AN: 152200Hom.: 87 Cov.: 33
GnomAD4 genome AF: 0.0308 AC: 4697AN: 152318Hom.: 87 Cov.: 33 AF XY: 0.0317 AC XY: 2359AN XY: 74482
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at