Is COL4A4 p.Gln34= (c.102A>G) pathogenic?

COL4A4 p.Gln34= (c.102A>G) is classified Benign in COL4A4 (ClinVar, Multiple submitters, 7 submitters; last evaluated 2026-01-29). Low-frequency (popmax 2.61%, eas); Associated with Alport syndrome.

What condition is associated with COL4A4 p.Gln34= (c.102A>G)?

COL4A4 p.Gln34= (c.102A>G) is associated with Alport syndrome (ClinVar).

How common is COL4A4 p.Gln34= (c.102A>G) in the general population?

COL4A4 p.Gln34= (c.102A>G) is low-frequency (popmax 2.61%, eas) (gnomAD).

How is Alport syndrome inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

COL4A4 p.Gln34=

c.102A>G · rs3817617 · VCV255012

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 7 submitters

gnomAD v4.1

Rare

low-frequency (popmax 2.61%, eas)

Conditions

Alport syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -0.1	GERP -4.4, phastCons 0.83
Overall
CADD	1.383	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 2.61% East Asian · 1,168/44,802 alleles

Filtering AF 2.48% ClinGen BA1/BS1 input FAF95, joint · FAF99 2.43%

Overall 0.087% 1,401/1,610,258 alleles · low-frequency

Ancestry group	Frequency	1 in
East Asiangrpmax	2.61%	38
Remaining individualsnot grpmax-eligible	0.157%	636
South Asian	0.133%	752
Middle Eastern	0.0165%	6,054
Admixed American	0.00167%	60,012
European (non-Finnish)	0.00102%	98,056

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: COL4A4
Protein: p.Gln34=
Coding: c.102A>G
MANE Select: NM_000092
dbSNP: rs3817617
Type: single nucleotide variant
Location: chr2:227144528 (GRCh38)
Gene constraint: LOEUF 0.607 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 49.03 · 2 PDB

Full COL4A4 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Alport syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Alport syndrome (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, X-linked dominant
Onset: Adolescent, Adult, Childhood, Elderly

Similar variants

COL4A4 p.Gln34Ter Pathogenic ★ same residue
COL4A4 p.Gln34Lys Uncertain significance ★ ⚠ same residue
COL4A4 c.1030-2A>C Likely pathogenic ★★ same condition
COL4A4 c.1369+1G>A Pathogenic/Likely pathogenic ★★ same condition
COL4A4 c.1370-2A>C Likely pathogenic ★★ same condition
COL4A4 c.1696+1G>A Likely pathogenic ★★ same condition
COL4A4 c.1696+1G>T Likely pathogenic ★★ same condition
COL4A4 c.1697-1G>A Pathogenic/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/col4a4-p-gln34 (accessed [today's date]).

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