Is DCP1B p.Pro98= (c.294T>G) pathogenic?

DCP1B p.Pro98= (c.294T>G) is classified Likely benign in DCP1B (ClinVar, Single submitter, 1 submitter; last evaluated 2026-03-01). Rare (popmax 0.194%, sas).

How common is DCP1B p.Pro98= (c.294T>G) in the general population?

DCP1B p.Pro98= (c.294T>G) is rare (popmax 0.194%, sas) (gnomAD).

DCP1B p.Pro98=

c.294T>G · rs150415068 · VCV2570815

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.194%, sas)

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

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 1.1	GERP -2.2, phastCons 0.99
Overall
CADD	9.303	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.194% South Asian · 177/91,076 alleles

Filtering AF 0.171% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.162%

Overall 0.12% 1,930/1,614,154 alleles · rare exomes 1,741/1,461,816 · genomes 189/152,338 · joint denominator

Ancestry group	Frequency	1 in
South Asiangrpmax	0.194%	515
Ashkenazi Jewishnot grpmax-eligible	0.182%	548
European (non-Finnish)	0.131%	763
Remaining individualsnot grpmax-eligible	0.102%	977
Finnishnot grpmax-eligible	0.0656%	1,525
Admixed American	0.0516%	1,936
Middle Eastern	0.0495%	2,021
African / African-American	0.016%	6,256
East Asian	0.00223%	44,876

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: DCP1B
Protein: p.Pro98=
Coding: c.294T>G
MANE Select: NM_152640
dbSNP: rs150415068
Type: single nucleotide variant
Location: chr12:1993289 (GRCh38)

Full DCP1B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

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/dcp1b-p-pro98 (accessed [today's date]).

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