SAC3D1

Chr 11

SAC3 domain containing 1

ENSG00000168061 UniProt: A6NKF1 OMIM: 618796

SAC3D1 encodes a protein involved in centrosome duplication and mitotic progression, with predicted roles in spindle assembly and regulation of immune response signaling pathways. The gene shows low constraint against loss-of-function variants (pLI = 0.0006, LOEUF = 1.73), suggesting tolerance to protein-disrupting mutations. Currently, no well-established Mendelian diseases have been definitively associated with SAC3D1 mutations.

OMIM ResearchSummary from RefSeq, UniProt

Involved in centrosome duplication and mitotic progression

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.73

LOEUF

—

Mechanism

Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.73LOEUF

pLI 0.001

Z-score 0.22

OE 0.90 (0.47–1.73)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.60Z-score

OE missense 0.87 (0.75–1.00)

137 obs / 158.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.90 (0.47–1.73)

0≤0.351.4

Missense OE?0.87 (0.75–1.00)

0≤0.61.4

Synonymous OE?1.04

0≤1.21.6

LoF obs/exp: 5 / 5.6Missense obs/exp: 137 / 158.2Syn Z: -0.24

Background carrier burden — how many people carry a rare variant somewhere in SAC3D1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

617 rare PASS variants

Rare truncating (LoF)

1 in 1,900

79 rare PASS variants

Rare synonymous (reference)

1 in 230

269 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SAC3D1. 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 150	1 in 1,800
South Asian	~43k	1 in 85	1 in 2,000
Remaining (unassigned)	~30k	1 in 66	1 in 5,600
European (Finnish)	~27k	1 in 320	≈ 1 in 26,000
Admixed American	~22k	1 in 75	1 in 1,800
African / African American	~21k	1 in 110	1 in 1,400
East Asian	~20k	1 in 88	≈ 1 in 7,600
Ashkenazi Jewish	~13k	1 in 370	1 in 1,000
Middle Eastern	~2,884	1 in 72	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.

Exome coverage (gnomAD): 1 of 2 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 2.? see exons ↓