rs13151220
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_925461.2(LOC105374523):n.266-15283C>A 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 0.0818 in 152,148 control chromosomes in the GnomAD database, including 526 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_925461.2 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 |
---|---|---|---|---|---|---|---|
LOC105374523 | XR_925461.2 | n.266-15283C>A | intron_variant, non_coding_transcript_variant | ||||
LOC105374523 | XR_001741614.1 | n.227-15283C>A | intron_variant, non_coding_transcript_variant | ||||
LOC105374524 | XR_007058437.1 | n.2932+11200G>T | intron_variant, non_coding_transcript_variant | ||||
LOC105374523 | XR_925460.2 | n.227-15283C>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes AF: 0.0818 AC: 12437AN: 152030Hom.: 525 Cov.: 32
GnomAD4 genome AF: 0.0818 AC: 12439AN: 152148Hom.: 526 Cov.: 32 AF XY: 0.0814 AC XY: 6056AN XY: 74382
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at