Is DNAJB6 p.Lys320Ser (c.958_959delinsTC) pathogenic?

DNAJB6 p.Lys320Ser (c.958959delinsTC) is classified Uncertain significance in DNAJB6 (ClinVar, Single submitter, 1 submitter; last evaluated 2016-01-07). Absent from gnomAD.

How common is DNAJB6 p.Lys320Ser (c.958_959delinsTC) in the general population?

DNAJB6 p.Lys320Ser (c.958_959delinsTC) is absent from gnomAD (gnomAD).

DNAJB6 p.Lys320Ser

c.958_959delinsTC · rs886042962 · VCV284867

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 8.1	GERP 1.4, phastCons 1
Regional constraint	o/e 0.92	unconstrained · MANE · 49 kb · p 0.16 · regional, not allelic
Region caveats
Repeat context	tandem	GA-rich low complexity · ambiguous alignment · confidence, not pathogenicity

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. 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: DNAJB6
Protein: p.Lys320Ser
Coding: c.958_959delinsTC
MANE Select: NM_058246
dbSNP: rs886042962
Type: Indel
Location: chr7:157416075 (GRCh38)
Gene constraint: LOEUF 0.92 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 64.04 · 4 PDB
Residue 320: the 'disordered' region

Full DNAJB6 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

DNAJB6 p.Lys320del Uncertain significance ★★ same residue
DNAJB6 c.620+16_620+17delinsAT Uncertain significance ★ same type
DNAJB6 c.621-17_621-16delinsTG Uncertain significance ★ same type
DNAJB6 p.Phe114Asp Uncertain significance ★ same type
DNAJB6 p.Pro263Phe 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/dnajb6-p-lys320ser (accessed [today's date]).

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