rs1230358
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000501338.5(ENSG00000247121):n.1689-2659A>C 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 0.639 in 152,154 control chromosomes in the GnomAD database, including 31,369 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
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ERAP2 | NM_001130140.2 | c.-176T>G | 5_prime_UTR_variant | 1/19 | |||
ERAP2 | NM_001329229.1 | c.-613T>G | 5_prime_UTR_variant | 1/18 | |||
ERAP2 | NM_001329233.1 | c.-613T>G | 5_prime_UTR_variant | 1/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000501338.5 | n.1689-2659A>C | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.639 AC: 96907AN: 151748Hom.: 31287 Cov.: 30
GnomAD4 exome AF: 0.622 AC: 179AN: 288Hom.: 58 Cov.: 0 AF XY: 0.641 AC XY: 91AN XY: 142
GnomAD4 genome AF: 0.639 AC: 96973AN: 151866Hom.: 31311 Cov.: 30 AF XY: 0.643 AC XY: 47696AN XY: 74182
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at