FAM210A

Chr 18AR

mitochondrial inner membrane structural 1

Also known as: C18orf19, FAM210A, HsT2329, SEMDTSED

NCBI Gene: 125228 ENSG00000177150 UniProt: Q96ND0 OMIM: 617975

FAM210A encodes a mitochondrial protein that may contribute to muscle and bone structure and strength. Mutations cause autosomal recessive disorders affecting muscle and skeletal development. The gene shows high constraint against loss-of-function variants, suggesting intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, UniProt

Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasiaMIM #621650

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasia; no ClinGen or GenCC tier

Active trials

—

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.45

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.45LOEUF

pLI 0.000

Z-score 0.45

OE 0.86 (0.53–1.45)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.46Z-score

OE missense 0.89 (0.78–1.03)

133 obs / 148.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.86 (0.53–1.45)

0≤0.351.4

Missense OE?0.89 (0.78–1.03)

0≤0.61.4

Synonymous OE?1.02

0≤1.21.6

LoF obs/exp: 10 / 11.7Missense obs/exp: 133 / 148.6Syn Z: -0.10

Background carrier burden — how many people carry a rare variant somewhere in FAM210A?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 200

347 rare PASS variants

Rare truncating (LoF)

1 in 1,900

52 rare PASS variants

Rare synonymous (reference)

1 in 380

135 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for FAM210A. 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 210	1 in 4,500
South Asian	~43k	1 in 350	≈ 1 in 21,000
Remaining (unassigned)	~30k	1 in 160	1 in 950
European (Finnish)	~27k	1 in 420	1 in 3,300
Admixed American	~22k	1 in 170	1 in 750
African / African American	~21k	1 in 190	≈ 1 in 5,600
East Asian	~20k	1 in 170	1 in 2,200
Ashkenazi Jewish	~13k	1 in 870	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 480	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.