rs745313899
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP6
The ENST00000350549.8(PRSS37):c.643G>A(p.Val215Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000246 in 1,461,320 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
ENST00000350549.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PRSS37 | NM_001008270.3 | c.643G>A | p.Val215Ile | missense_variant | 5/5 | ENST00000350549.8 | NP_001008271.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PRSS37 | ENST00000350549.8 | c.643G>A | p.Val215Ile | missense_variant | 5/5 | 1 | NM_001008270.3 | ENSP00000297767 | P1 | |
PRSS37 | ENST00000452758.1 | c.*413G>A | 3_prime_UTR_variant, NMD_transcript_variant | 5/5 | 1 | ENSP00000395287 | ||||
PRSS37 | ENST00000438520.1 | c.643G>A | p.Val215Ile | missense_variant | 6/6 | 5 | ENSP00000414461 | P1 | ||
PRSS37 | ENST00000419085.5 | c.*1417G>A | 3_prime_UTR_variant, NMD_transcript_variant | 7/7 | 2 | ENSP00000398810 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000278 AC: 7AN: 251480Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135916
GnomAD4 exome AF: 0.0000246 AC: 36AN: 1461320Hom.: 0 Cov.: 30 AF XY: 0.0000289 AC XY: 21AN XY: 726960
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1Benign:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 29, 2022 | The c.643G>A (p.V215I) alteration is located in exon 5 (coding exon 5) of the PRSS37 gene. This alteration results from a G to A substitution at nucleotide position 643, causing the valine (V) at amino acid position 215 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Likely benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Aug 16, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at