Is PRSS1 p.Ser43= (c.129T>C) pathogenic?

PRSS1 p.Ser43= (c.129T>C) is classified Likely benign in PRSS1 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2024-07-09). No allele count reported in gnomAD v4.1 (AN 1,613,932); Associated with hereditary chronic pancreatitis.

What condition is associated with PRSS1 p.Ser43= (c.129T>C)?

PRSS1 p.Ser43= (c.129T>C) is associated with hereditary chronic pancreatitis (ClinVar).

How common is PRSS1 p.Ser43= (c.129T>C) in the general population?

PRSS1 p.Ser43= (c.129T>C) is no allele count reported in gnomAD v4.1 (AN 1,613,932) (gnomAD).

PRSS1 p.Ser43=

Q: How is Autosomal dominant hereditary chronic pancreatitis inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

c.129T>C · rs2485733384 · VCV1769329

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,613,932)

Conditions

hereditary chronic pancreatitis

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -8.3	GERP -3.7
Overall
CADD	0.379	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,613,932). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: PRSS1
Protein: p.Ser43=
Coding: c.129T>C
dbSNP: rs2485733384
Type: single nucleotide variant
Location: chr7:142750643 (GRCh38)

Full PRSS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

hereditary chronic pancreatitis — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Autosomal dominant hereditary chronic pancreatitis (Orphanet):

Inheritance: Autosomal dominant
Onset: Adolescent, Childhood
Prevalence: 1-9 / 1 000 000 (France)

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/prss1-p-ser43 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown