rs17482078
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001040458.3(ERAP1):āc.2174G>Cā(p.Arg725Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00000479 in 1,461,868 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R725Q) has been classified as Benign.
Frequency
Consequence
NM_001040458.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ERAP1 | NM_001040458.3 | c.2174G>C | p.Arg725Pro | missense_variant | 15/19 | ENST00000443439.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ERAP1 | ENST00000443439.7 | c.2174G>C | p.Arg725Pro | missense_variant | 15/19 | 1 | NM_001040458.3 | P1 | |
ERAP1 | ENST00000296754.7 | c.2174G>C | p.Arg725Pro | missense_variant | 15/20 | 1 | |||
ERAP1 | ENST00000514604.5 | n.598G>C | non_coding_transcript_exon_variant | 5/6 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.0000278 AC: 7AN: 251358Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135822
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461868Hom.: 0 Cov.: 36 AF XY: 0.00000550 AC XY: 4AN XY: 727236
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at