rs2281962
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007066717.1(LOC124904451):n.175-263A>G 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 0.403 in 589,254 control chromosomes in the GnomAD database, including 50,056 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_007066717.1 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 |
---|---|---|---|---|---|---|---|
LOC124904451 | XR_007066717.1 | n.175-263A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GPA33 | ENST00000632571.1 | c.-281-16984T>C | intron_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.406 AC: 61635AN: 151808Hom.: 12901 Cov.: 31
GnomAD4 exome AF: 0.402 AC: 175674AN: 437328Hom.: 37150 Cov.: 0 AF XY: 0.397 AC XY: 91608AN XY: 230768
GnomAD4 genome ? AF: 0.406 AC: 61665AN: 151926Hom.: 12906 Cov.: 31 AF XY: 0.403 AC XY: 29894AN XY: 74248
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at