7-141839437-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001008270.3(PRSS37):c.77C>T(p.Pro26Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 1,613,546 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 Uncertain significance (★).
Frequency
Consequence
NM_001008270.3 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 |
---|---|---|---|---|---|---|---|
PRSS37 | NM_001008270.3 | c.77C>T | p.Pro26Leu | missense_variant | 2/5 | ENST00000350549.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRSS37 | ENST00000350549.8 | c.77C>T | p.Pro26Leu | missense_variant | 2/5 | 1 | NM_001008270.3 | P1 | |
PRSS37 | ENST00000452758.1 | c.45C>T | p.Pro15= | synonymous_variant, NMD_transcript_variant | 2/5 | 1 | |||
PRSS37 | ENST00000438520.1 | c.77C>T | p.Pro26Leu | missense_variant | 3/6 | 5 | P1 | ||
PRSS37 | ENST00000419085.5 | c.77C>T | p.Pro26Leu | missense_variant, NMD_transcript_variant | 3/7 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152102Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000319 AC: 8AN: 251158Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135734
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461444Hom.: 0 Cov.: 30 AF XY: 0.00000688 AC XY: 5AN XY: 727044
GnomAD4 genome AF: 0.000112 AC: 17AN: 152102Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74284
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 19, 2024 | The c.77C>T (p.P26L) alteration is located in exon 2 (coding exon 2) of the PRSS37 gene. This alteration results from a C to T substitution at nucleotide position 77, causing the proline (P) at amino acid position 26 to be replaced by a leucine (L). 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