TDRD10

Chr 1

tudor domain containing 10

NCBI Gene: 126668 ENSG00000163239 UniProt: Q5VZ19 OMIM: 621615

Predicted to enable protein kinase A regulatory subunit binding activity. Predicted to be active in membrane and mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

Predicted to enable protein kinase A regulatory subunit binding activity. Predicted to be active in membrane and mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.92

LOEUF

GOF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.92LOEUF

pLI 0.000

Z-score 1.83

OE 0.56 (0.35–0.92)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.01Z-score

OE missense 0.81 (0.71–0.91)

171 obs / 212.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.56 (0.35–0.92)

0≤0.351.4

Missense OE?0.81 (0.71–0.91)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 11 / 19.8Missense obs/exp: 171 / 212.3Syn Z: 0.33

Background carrier burden — how many people carry a rare variant somewhere in TDRD10?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 180

429 rare PASS variants

Rare truncating (LoF)

1 in 560

101 rare PASS variants

Rare synonymous (reference)

1 in 200

188 rare PASS variants

Rare missense and truncating variants are carried at similar rates in TDRD10; this gene does not show strong loss-of-function constraint by this measure. 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 240	1 in 490
South Asian	~43k	1 in 110	1 in 1,100
Remaining (unassigned)	~30k	1 in 150	1 in 660
European (Finnish)	~27k	1 in 330	1 in 4,500
Admixed American	~22k	1 in 120	1 in 890
African / African American	~21k	1 in 160	1 in 780
East Asian	~20k	1 in 170	1 in 1,500
Ashkenazi Jewish	~13k	1 in 2,200	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 130	≈ 1 in 960

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.

Exome coverage (gnomAD): 11 of 12 coding exons well covered in gnomAD exomes; exon 4 marginal. Genomes: all 12.? see exons ↓