rs17408150
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000437043.8(ERAP2):c.2006T>A(p.Leu669Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0496 in 1,594,986 control chromosomes in the GnomAD database, including 2,284 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. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
ENST00000437043.8 missense
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ERAP2 | NM_022350.5 | c.2006T>A | p.Leu669Gln | missense_variant | 13/19 | ENST00000437043.8 | NP_071745.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ERAP2 | ENST00000437043.8 | c.2006T>A | p.Leu669Gln | missense_variant | 13/19 | 1 | NM_022350.5 | ENSP00000400376 | P1 | |
ENST00000501338.5 | n.1689-30176A>T | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.0380 AC: 5786AN: 152174Hom.: 190 Cov.: 32
GnomAD3 exomes AF: 0.0403 AC: 9445AN: 234360Hom.: 265 AF XY: 0.0421 AC XY: 5325AN XY: 126564
GnomAD4 exome AF: 0.0509 AC: 73388AN: 1442694Hom.: 2095 Cov.: 31 AF XY: 0.0509 AC XY: 36441AN XY: 716500
GnomAD4 genome AF: 0.0380 AC: 5782AN: 152292Hom.: 189 Cov.: 32 AF XY: 0.0362 AC XY: 2694AN XY: 74476
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at