Is DNAJB8 p.Arg101Gln (c.302G>A) pathogenic?

DNAJB8 p.Arg101Gln (c.302G>A) is classified Benign in DNAJB8 (ClinVar, Single submitter, 1 submitter; last evaluated 2018-06-18). AlphaMissense: likely benign (0.1246); Low-frequency (popmax 2.51%, afr).

How common is DNAJB8 p.Arg101Gln (c.302G>A) in the general population?

DNAJB8 p.Arg101Gln (c.302G>A) is low-frequency (popmax 2.51%, afr) (gnomAD).

What do computational predictors say about DNAJB8 p.Arg101Gln (c.302G>A)?

AlphaMissense predicts likely benign (score 0.1246) — an in-silico prediction, not a clinical call.

DNAJB8 p.Arg101Gln

c.302G>A · rs61758422 · VCV767931

Benign Single submitter

Classification

Benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.1246 · ACMG-weighted

gnomAD v4.1

Rare

low-frequency (popmax 2.51%, afr)

Missense predictors

0/2 damaging

AlphaMissense, SaProt · REVEL no call

Computational evidence

Protein change
AlphaMissense	0.1246	likely benign
REVEL	0.292	indeterminate
SaProt	LLR -9.69	tolerated
⇒ AlphaMissense and SaProt both call this tolerated; REVEL makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1.7	GERP -0.33, phastCons 0.92
Regional constraint	o/e 1.11	unconstrained · MANE · 695 bp · p 0.049 · regional, not allelic
Overall
CADD	24.1	PHRED · no single calibrated threshold — expert panels disagree

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

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 2.51% African / African-American · 1,885/75,038 alleles

Filtering AF 2.42% ClinGen BA1/BS1 input FAF95, joint · FAF99 2.38%

Overall 0.138% 2,221/1,614,092 alleles · low-frequency

Ancestry group	Frequency	1 in
African / African-Americangrpmax	2.51%	40
Remaining individualsnot grpmax-eligible	0.186%	539
Admixed American	0.17%	588
Middle Eastern	0.0825%	1,212
European (non-Finnish)	0.00907%	11,028
South Asian	0.00549%	18,215
Finnishnot grpmax-eligible	0.00156%	64,038

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: DNAJB8
Protein: p.Arg101Gln
Coding: c.302G>A
MANE Select: NM_153330
dbSNP: rs61758422
Type: single nucleotide variant
Location: chr3:128462944 (GRCh38)
Gene constraint: LOEUF 1.786 · pLI 0.38 (gnomAD)
Structure: AlphaFold pLDDT 66.35 · 2 PDB

Full DNAJB8 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

DNAJB8 p.Glu6= Benign ★★ same type
DNAJB8 p.Met153Leu Benign ★★ same type
DNAJB8 p.Ala143Asp Uncertain significance ★ ⚠ same type
DNAJB8 p.Ala143Gly Uncertain significance ★ ⚠ same type
DNAJB8 p.Ala147Val Uncertain significance ★ ⚠ same type
DNAJB8 p.Ala68Thr Uncertain significance ★ ⚠ same type
DNAJB8 p.Arg131Ser Uncertain significance ★ ⚠ same type
DNAJB8 p.Arg206His 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/dnajb8-p-arg101gln (accessed [today's date]).

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