rs773357729
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_002769.5(PRSS1):c.38C>G(p.Ala13Gly) variant causes a missense, splice region change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 2/2 splice prediction tools predict no significant impact on normal splicing. 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. A13V) has been classified as Uncertain significance.
Frequency
Consequence
NM_002769.5 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRSS1 | NM_002769.5 | c.38C>G | p.Ala13Gly | missense_variant, splice_region_variant | 1/5 | ENST00000311737.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRSS1 | ENST00000311737.12 | c.38C>G | p.Ala13Gly | missense_variant, splice_region_variant | 1/5 | 1 | NM_002769.5 | P1 | |
PRSS1 | ENST00000486171.5 | c.38C>G | p.Ala13Gly | missense_variant, splice_region_variant | 1/6 | 5 | |||
PRSS1 | ENST00000485223.1 | n.51C>G | splice_region_variant, non_coding_transcript_exon_variant | 1/2 | 2 | ||||
PRSS1 | ENST00000497041.1 | n.42C>G | splice_region_variant, non_coding_transcript_exon_variant | 1/2 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD4 exome Cov.: 48
GnomAD4 genome ? Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at