rs2903308
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000655174.1(ENSG00000262801):n.855A>G 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 0.558 in 152,144 control chromosomes in the GnomAD database, including 24,557 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 |
---|---|---|---|---|---|---|---|
SHISA9 | XR_932915.3 | downstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000655174.1 | n.855A>G | non_coding_transcript_exon_variant | 4/4 | ||||||
ENST00000574540.2 | downstream_gene_variant | 3 | |||||||
ENST00000653029.1 | downstream_gene_variant |
Frequencies
GnomAD3 genomes AF: 0.558 AC: 84771AN: 152016Hom.: 24522 Cov.: 33
GnomAD4 exome AF: 0.700 AC: 7AN: 10Hom.: 2 AF XY: 0.833 AC XY: 5AN XY: 6
GnomAD4 genome AF: 0.558 AC: 84856AN: 152134Hom.: 24555 Cov.: 33 AF XY: 0.560 AC XY: 41680AN XY: 74368
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at