rs151949
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The XR_007058879.1(LOC124901033):n.685C>A 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 0.00000634 in 473,060 control chromosomes in the GnomAD database, with no homozygous occurrence. 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_007058879.1 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC124901033 | XR_007058879.1 | n.685C>A | non_coding_transcript_exon_variant | 1/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ERAP1 | ENST00000296754.7 | upstream_gene_variant | 1 | ENSP00000296754 |
Frequencies
GnomAD3 genomes AF: 0.0000144 AC: 2AN: 139260Hom.: 0 Cov.: 28
GnomAD4 exome AF: 0.00000300 AC: 1AN: 333800Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 154434
GnomAD4 genome AF: 0.0000144 AC: 2AN: 139260Hom.: 0 Cov.: 28 AF XY: 0.00 AC XY: 0AN XY: 67084
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at