rs3829210
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007061183.1(LOC105375760):n.89+2296G>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 0.445 in 152,178 control chromosomes in the GnomAD database, including 15,737 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_007061183.1 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 |
---|---|---|---|---|---|---|---|
LOC105375760 | XR_007061183.1 | n.89+2296G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105375760 | XR_007061182.1 | n.89+2296G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105375760 | XR_928653.3 | n.81+2296G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.445 AC: 67651AN: 152024Hom.: 15733 Cov.: 34
GnomAD4 exome AF: 0.472 AC: 17AN: 36Hom.: 5 Cov.: 0 AF XY: 0.500 AC XY: 14AN XY: 28
GnomAD4 genome ? AF: 0.445 AC: 67671AN: 152142Hom.: 15732 Cov.: 34 AF XY: 0.452 AC XY: 33635AN XY: 74360
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at