rs2294478
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_926703.3(LOC105375021):n.565-90G>T 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 0.457 in 152,098 control chromosomes in the GnomAD database, including 17,024 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
XR_926703.3 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC105375021 | XR_926703.3 | n.565-90G>T | intron_variant, non_coding_transcript_variant | ||||
LOC105375021 | XR_001744086.2 | n.710+8G>T | splice_region_variant, intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HLA-DPA3 | ENST00000454398.1 | downstream_gene_variant |
Frequencies
GnomAD3 genomes ? AF: 0.457 AC: 69359AN: 151836Hom.: 16996 Cov.: 32
GnomAD4 exome AF: 0.424 AC: 61AN: 144Hom.: 15 Cov.: 0 AF XY: 0.429 AC XY: 42AN XY: 98
GnomAD4 genome ? AF: 0.457 AC: 69403AN: 151954Hom.: 17009 Cov.: 32 AF XY: 0.463 AC XY: 34407AN XY: 74280
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at