rs193920873
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_022119.4(PRSS22):āc.806G>Cā(p.Arg269Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000187 in 1,600,736 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign 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. R269H) has been classified as Uncertain significance.
Frequency
Consequence
NM_022119.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRSS22 | NM_022119.4 | c.806G>C | p.Arg269Pro | missense_variant | 6/6 | ENST00000161006.8 | |
PRSS22 | XM_047434451.1 | c.593G>C | p.Arg198Pro | missense_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRSS22 | ENST00000161006.8 | c.806G>C | p.Arg269Pro | missense_variant | 6/6 | 1 | NM_022119.4 | P1 | |
PRSS22 | ENST00000576381.2 | c.*664G>C | 3_prime_UTR_variant, NMD_transcript_variant | 6/6 | 1 | ||||
PRSS22 | ENST00000571228.1 | c.476G>C | p.Arg159Pro | missense_variant | 5/5 | 2 | |||
PRSS22 | ENST00000575164.1 | n.658G>C | non_coding_transcript_exon_variant | 3/3 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152114Hom.: 0 Cov.: 32
GnomAD4 exome AF: 6.90e-7 AC: 1AN: 1448622Hom.: 0 Cov.: 33 AF XY: 0.00000139 AC XY: 1AN XY: 721200
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152114Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74306
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at