Is COL4A5 p.Pro205fs (c.614del) pathogenic?

COL4A5 p.Pro205fs (c.614del) is classified Likely pathogenic in COL4A5 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-08-21). Associated with COL4A5-related disorders.

What condition is associated with COL4A5 p.Pro205fs (c.614del)?

COL4A5 p.Pro205fs (c.614del) is associated with COL4A5-related disorders (ClinVar).

COL4A5 p.Pro205fs

c.614del · VCV4952228

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

COL4A5-related disorders

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 11 of 53
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 9.8	GERP 1.3, phastCons 1

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

Variant & gene context

Gene: COL4A5
Protein: p.Pro205fs
Coding: c.614del
MANE Select: NM_033380
Type: Deletion
Location: chrX:108577954 (GRCh38)
Structure: AlphaFold pLDDT 49.04 · 2 PDB
Residue 205: the 'triple-helical region' region; the 'disordered' region

Full COL4A5 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

COL4A5-related disorders

Similar variants

COL4A5 p.Gly380fs Pathogenic/Likely pathogenic ★★ same condition
COL4A5 p.Lys330fs Pathogenic/Likely pathogenic ★★ same condition
COL4A5 c.1168delG Likely pathogenic ★ same condition
COL4A5 c.3943-2del Likely pathogenic ★ same condition
COL4A5 p.Asp317_Gly322del Likely pathogenic ★ same condition
COL4A5 p.Gln1038fs Likely pathogenic ★ same condition
COL4A5 p.Gln1685fs Likely pathogenic ★ same condition
COL4A5 p.Gly1066fs Likely pathogenic ★ same condition

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/col4a5-p-pro205fs (accessed [today's date]).

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