SLC25A33

Chr 1

solute carrier family 25 member 33

Also known as: BMSC-MCP, PNC1

NCBI Gene: 84275 ENSG00000171612 UniProt: Q9BSK2 OMIM: 610816

SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]

OMIM Research

SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.82

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.82LOEUF

pLI 0.006

Z-score 2.04

OE 0.42 (0.23–0.82)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.84Z-score

OE missense 0.82 (0.72–0.94)

144 obs / 175.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.42 (0.23–0.82)

0≤0.351.4

Missense OE?0.82 (0.72–0.94)

0≤0.61.4

Synonymous OE?1.09

0≤1.21.6

LoF obs/exp: 6 / 14.4Missense obs/exp: 144 / 175.1Syn Z: -0.56

Background carrier burden — how many people carry a rare variant somewhere in SLC25A33?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 270

282 rare PASS variants

Rare truncating (LoF)

1 in 5,300

37 rare PASS variants

Rare synonymous (reference)

1 in 220

152 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SLC25A33. 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 300	1 in 5,700
South Asian	~43k	1 in 350	≈ 1 in 14,000
Remaining (unassigned)	~30k	1 in 180	≈ 1 in 30,000
European (Finnish)	~27k	1 in 740	1 in 1,900
Admixed American	~22k	1 in 160	1 in 4,300
African / African American	~21k	1 in 150	≈ 1 in 4,400
East Asian	~20k	1 in 200	1 in 1,300
Ashkenazi Jewish	~13k	1 in 2,200	none seen
Middle Eastern	~2,884	1 in 210	≈ 1 in 2,900

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): 6 of 7 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 7.? see exons ↓