Is DAZAP1 p.Asn3Ser (c.8A>G) pathogenic?

DAZAP1 p.Asn3Ser (c.8A>G) is classified Uncertain significance in DAZAP1 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-01-30). AlphaMissense: likely benign (0.0554); Ultra-rare (popmax 0.0166%, eas).

How common is DAZAP1 p.Asn3Ser (c.8A>G) in the general population?

DAZAP1 p.Asn3Ser (c.8A>G) is ultra-rare (popmax 0.0166%, eas) (gnomAD).

What do computational predictors say about DAZAP1 p.Asn3Ser (c.8A>G)?

AlphaMissense predicts likely benign (score 0.0554) — an in-silico prediction, not a clinical call.

DAZAP1 p.Asn3Ser

c.8A>G · rs1278085566 · VCV3080139

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0554 · ACMG-weighted

gnomAD v4.1

Rare

ultra-rare (popmax 0.0166%, eas)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.0554	likely benign
REVEL	0.152	moderately benign-leaning
SaProt	LLR -5.26	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 3.4	GERP 1, phastCons 1
Regional constraint	o/e 0.63	unconstrained · MANE · 13 kb · p 4.2e-06 · regional, not allelic
Overall
CADD	19.23	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0166% East Asian · 3/18,068 alleles

Filtering AF 0.00449% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00232%

Overall 0.000464% 5/1,077,984 alleles · ultra-rare exomes 3/934,388 · genomes 2/143,596 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	0.0166%	6,023
Remaining individualsnot grpmax-eligible	0.00284%	35,224
European (non-Finnish)	0.000112%	891,027

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: DAZAP1
Protein: p.Asn3Ser
Coding: c.8A>G
MANE Select: NM_018959
dbSNP: rs1278085566
Type: single nucleotide variant
Location: chr19:1407781 (GRCh38)
Gene constraint: LOEUF 0.236 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 65.53 · 2 PDB

Full DAZAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

DAZAP1 p.Pro271= Benign ★★ same type
DAZAP1 p.Ala214Thr Uncertain significance ★ ⚠ same type
DAZAP1 p.Ala242Thr Uncertain significance ★ ⚠ same type
DAZAP1 p.Ala251Gly Uncertain significance ★ ⚠ same type
DAZAP1 p.Ala255Val Uncertain significance ★ ⚠ same type
DAZAP1 p.Ala331Val Uncertain significance ★ ⚠ same type
DAZAP1 p.Ala340Thr Uncertain significance ★ ⚠ same type
DAZAP1 p.Arg88Trp Uncertain significance ★ ⚠ same type

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/dazap1-p-asn3ser (accessed [today's date]).

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