16-31132437-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_002773.5(PRSS8):c.697G>A(p.Ala233Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000684 in 1,461,382 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002773.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PRSS8 | ENST00000317508.11 | c.697G>A | p.Ala233Thr | missense_variant | Exon 5 of 6 | 1 | NM_002773.5 | ENSP00000319730.6 | ||
PRSS8 | ENST00000568261.5 | c.535G>A | p.Ala179Thr | missense_variant | Exon 5 of 6 | 2 | ENSP00000457750.1 | |||
PRSS8 | ENST00000567531.5 | c.*2G>A | downstream_gene_variant | 3 | ENSP00000457673.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248752Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134924
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461382Hom.: 0 Cov.: 30 AF XY: 0.00000688 AC XY: 5AN XY: 726906
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.697G>A (p.A233T) alteration is located in exon 5 (coding exon 5) of the PRSS8 gene. This alteration results from a G to A substitution at nucleotide position 697, causing the alanine (A) at amino acid position 233 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at