Is COL4A5 p.Pro765fs (c.2294del) pathogenic?

COL4A5 p.Pro765fs (c.2294del) is classified Pathogenic/Likely pathogenic in COL4A5 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2023-06-09). Absent from gnomAD.

How common is COL4A5 p.Pro765fs (c.2294del) in the general population?

COL4A5 p.Pro765fs (c.2294del) is absent from gnomAD (gnomAD).

COL4A5 p.Pro765fs

c.2294del · rs2066735315 · VCV977198

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

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 in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 29 of 53
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.019	GERP -1.8, phastCons 0.81

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: COL4A5
Protein: p.Pro765fs
Coding: c.2294del
MANE Select: NM_033380
dbSNP: rs2066735315
Type: Deletion
Location: chrX:108606790 (GRCh38)
Structure: AlphaFold pLDDT 49.04 · 2 PDB
Residue 765: the 'triple-helical region' region; the 'disordered' region

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

Similar variants

COL4A5 p.Pro765= Conflicting classifications of pathogenicity ★ same residue
COL4A5 c.275_276+2del Pathogenic/Likely pathogenic ★★ same type
COL4A5 p.Asn607fs Pathogenic ★★ same type
COL4A5 p.Asp1540fs Pathogenic/Likely pathogenic ★★ same type
COL4A5 p.Asp989_Gly994del Pathogenic/Likely pathogenic ★★ same type
COL4A5 p.Glu1355fs Pathogenic ★★ same type
COL4A5 p.Gly1369fs Pathogenic/Likely pathogenic ★★ same type
COL4A5 p.Gly204fs Pathogenic/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/col4a5-p-pro765fs (accessed [today's date]).

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