rs9260105
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007059541.1(LOC124901298):n.813+2883C>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 0.044 in 169,394 control chromosomes in the GnomAD database, including 200 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_007059541.1 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 |
---|---|---|---|---|---|---|---|
LOC124901298 | XR_007059541.1 | n.813+2883C>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HLA-A | ENST00000396634.5 | c.-281-68G>T | intron_variant | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.0451 AC: 6854AN: 152118Hom.: 176 Cov.: 35
GnomAD4 exome AF: 0.0346 AC: 594AN: 17158Hom.: 23 AF XY: 0.0375 AC XY: 393AN XY: 10486
GnomAD4 genome ? AF: 0.0451 AC: 6866AN: 152236Hom.: 177 Cov.: 35 AF XY: 0.0452 AC XY: 3361AN XY: 74434
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at