Is BACH2 p.Tyr385= (c.1155C>T) pathogenic?

BACH2 p.Tyr385= (c.1155C>T) is classified Likely benign in BACH2 (ClinVar, Single submitter, 1 submitter; last evaluated 2026-01-04). Very rare (popmax 0.00359%, amr).

How common is BACH2 p.Tyr385= (c.1155C>T) in the general population?

BACH2 p.Tyr385= (c.1155C>T) is very rare (popmax 0.00359%, amr) (gnomAD).

BACH2 p.Tyr385=

c.1155C>T · rs747637950 · VCV2168653

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00359%, amr)

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 -0.31	GERP -3.1
Overall
CADD	1.556	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00359% Admixed American · 2/55,708 alleles

Filtering AF 0.000595% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000223%

Overall 0.000774% 11/1,420,536 alleles · very rare

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.00359%	27,854
Remaining individualsnot grpmax-eligible	0.0033%	30,306
European (non-Finnish)	0.000604%	165,683

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: BACH2
Protein: p.Tyr385=
Coding: c.1155C>T
MANE Select: NM_021813
dbSNP: rs747637950
Type: single nucleotide variant
Location: chr6:89950951 (GRCh38)
Gene constraint: LOEUF 0.164 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 54.66 · 2 PDB

Full BACH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

BACH2 p.Tyr385Asp Uncertain significance ★ ⚠ same residue
BACH2 p.Tyr385Cys Conflicting classifications of pathogenicity ★ ⚠ same residue
BACH2 p.Ala148Val Uncertain significance ★★ ⚠ same type
BACH2 p.Ala205Thr Uncertain significance ★★ ⚠ same type
BACH2 p.Ala304Glu Uncertain significance ★★ ⚠ same type
BACH2 p.Ala479Val Uncertain significance ★★ ⚠ same type
BACH2 p.Ala529Val Uncertain significance ★★ ⚠ same type
BACH2 p.Ala747Val 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/bach2-p-tyr385 (accessed [today's date]).

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