BAHD1

Chr 15

bromo adjacent homology domain containing 1

NCBI Gene: 22893 ENSG00000140320 UniProt: Q8TBE0 OMIM: 613880

Enables chromatin binding activity. Involved in heterochromatin formation and negative regulation of DNA-templated transcription. Located in nucleoplasm. Part of chromatin silencing complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.30

LOEUF· LoF intol.

LOF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.30LOEUF

pLI 0.985

Z-score 4.44

OE 0.13 (0.06–0.30)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

1.31Z-score

OE missense 0.84 (0.77–0.91)

435 obs / 518.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.13 (0.06–0.30)

0≤0.351.4

Missense OE?0.84 (0.77–0.91)

0≤0.61.4

Synonymous OE?0.99

0≤1.21.6

LoF obs/exp: 4 / 30.5Missense obs/exp: 435 / 518.8Syn Z: 0.14

Background carrier burden — how many people carry a rare variant somewhere in BAHD1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 58

999 rare PASS variants

Rare truncating (LoF)

1 in 1,700

45 rare PASS variants

Rare synonymous (reference)

1 in 160

436 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for BAHD1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 71	1 in 4,300
South Asian	~43k	1 in 58	≈ 1 in 14,000
Remaining (unassigned)	~30k	1 in 46	1 in 4,300
European (Finnish)	~27k	1 in 250	none seen
Admixed American	~22k	1 in 50	1 in 2,800
African / African American	~21k	1 in 42	1 in 2,300
East Asian	~20k	1 in 44	1 in 360
Ashkenazi Jewish	~13k	1 in 260	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 83	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.