7-141837114-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001008270.3(PRSS37):c.565G>T(p.Gly189Trp) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,966 control chromosomes in the GnomAD database, with no homozygous occurrence. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001008270.3 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRSS37 | NM_001008270.3 | c.565G>T | p.Gly189Trp | missense_variant, splice_region_variant | 4/5 | ENST00000350549.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRSS37 | ENST00000350549.8 | c.565G>T | p.Gly189Trp | missense_variant, splice_region_variant | 4/5 | 1 | NM_001008270.3 | P1 | |
PRSS37 | ENST00000452758.1 | c.*335G>T | splice_region_variant, 3_prime_UTR_variant, NMD_transcript_variant | 4/5 | 1 | ||||
PRSS37 | ENST00000438520.1 | c.565G>T | p.Gly189Trp | missense_variant, splice_region_variant | 5/6 | 5 | P1 | ||
PRSS37 | ENST00000419085.5 | c.*1339G>T | splice_region_variant, 3_prime_UTR_variant, NMD_transcript_variant | 6/7 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459966Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 726206
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 01, 2023 | The c.565G>T (p.G189W) alteration is located in exon 4 (coding exon 4) of the PRSS37 gene. This alteration results from a G to T substitution at nucleotide position 565, causing the glycine (G) at amino acid position 189 to be replaced by a tryptophan (W). 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