Is COL6A2 p.Asp736fs (c.2206_2208delinsCA) pathogenic?

COL6A2 p.Asp736fs (c.22062208delinsCA) is classified Likely pathogenic in COL6A2 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-12-22). Absent from gnomAD.

How common is COL6A2 p.Asp736fs (c.2206_2208delinsCA) in the general population?

COL6A2 p.Asp736fs (c.2206_2208delinsCA) is absent from gnomAD (gnomAD).

COL6A2 p.Asp736fs

c.2206_2208delinsCA · rs2517018190 · VCV2439458

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

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.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 26 of 28
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 1.3, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

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: COL6A2
Protein: p.Asp736fs
Coding: c.2206_2208delinsCA
MANE Select: NM_001849
dbSNP: rs2517018190
Type: Indel
Location: chr21:46126021 (GRCh38)
Gene constraint: LOEUF 0.895 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 69.58 · 1 PDB
Residue 736: the vwfa 2 domain; the 'nonhelical region' region

Full COL6A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

COL6A2 p.Asp736Ala Uncertain significance ★ ⚠ same residue
COL6A2 p.Asp736Gly Uncertain significance ★ ⚠ same residue
COL6A2 p.Asp736= Likely benign ★ same residue
COL6A2 p.Val728Ile Uncertain significance ★★ same type
COL6A2 c.955-3_955-1delinsAA Likely pathogenic ★ same type
COL6A2 c.999+9_1053+32delinsGCTGAAGGAGGGGTGCAAACGGCCCTTACCCGGTTTCCAGGGTCTCCCTTGCAGCCTTCA Pathogenic ★ same type
COL6A2 p.Arg680fs Likely pathogenic ★ same type
COL6A2 p.Asp740fs Likely pathogenic ★ 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/col6a2-p-asp736fs (accessed [today's date]).

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