Is PALLD p.Asp916= (c.2748C>T) pathogenic?

PALLD p.Asp916= (c.2748C>T) is classified Benign/Likely benign in PALLD (ClinVar, Multiple submitters, 3 submitters; last evaluated 2026-01-05). Rare (popmax 0.167%, afr); Associated with pancreatic adenocarcinoma.

What condition is associated with PALLD p.Asp916= (c.2748C>T)?

PALLD p.Asp916= (c.2748C>T) is associated with pancreatic adenocarcinoma (ClinVar).

How common is PALLD p.Asp916= (c.2748C>T) in the general population?

PALLD p.Asp916= (c.2748C>T) is rare (popmax 0.167%, afr) (gnomAD).

PALLD p.Asp916=

c.2748C>T · rs143544548 · VCV135996

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

rare (popmax 0.167%, afr)

Conditions

pancreatic adenocarcinoma

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 -1.9	GERP -1.2
Overall
CADD	8.383	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.167% African / African-American · 125/74,990 alleles

Filtering AF 0.143% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.134%

Overall 0.0115% 185/1,612,970 alleles · rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.167%	600
Admixed American	0.0167%	6,002
Middle Eastern	0.0165%	6,058
European (non-Finnish)	0.00382%	26,200
Remaining individualsnot grpmax-eligible	0.0032%	31,229
South Asian	0.0022%	45,533

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: PALLD
Protein: p.Asp916=
Coding: c.2748C>T
MANE Select: NM_032783 · reported on NM_001166108
dbSNP: rs143544548
Type: single nucleotide variant
Location: chr4:168915925 (GRCh38)

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

Disease context

pancreatic adenocarcinoma — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

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/palld-p-asp916 (accessed [today's date]).

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