STARD7

Chr 2AD

StAR related lipid transfer domain containing 7

Also known as: ADCME, BAFME2, FAME, FAME2, FCMTE2, GTT1

NCBI Gene: 56910 ENSG00000084090 UniProt: Q9NQZ5 OMIM: 616712

STARD7 encodes a protein with molecular carrier activity that is predicted to be involved in ubiquinone biosynthesis and located in mitochondria. Mutations cause familial adult myoclonic epilepsy 2, an autosomal dominant disorder with adult onset as indicated by the phenotype name. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.485).

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Predicted to enable molecular carrier activity. Predicted to be involved in ubiquinone biosynthetic process. Predicted to act upstream of or within several processes, including establishment of skin barrier; mucociliary clearance; and myeloid dendritic cell activation. Located in mitochondrion. Implicated in familial adult myoclonic epilepsy 2. [provided by Alliance of Genome Resources, Apr 2025]

OMIM ResearchGenerating clinical summary…

ADLOEUF 0.481 OMIM phenotype

Clinical Summary— STARD7

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.21) despite low pLI — interpret in context.

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ClinVar Variants

2 unique Pathogenic / Likely Pathogenic· 55 VUS of 69 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.48LOEUF

pLI 0.472

Z-score 3.17

OE 0.21 (0.10–0.48)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.96Z-score

OE missense 0.82 (0.72–0.93)

177 obs / 216.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.21 (0.10–0.48)

0≤0.351.4

Missense OE?0.82 (0.72–0.93)

0≤0.61.4

Synonymous OE?1.14

0≤1.21.6

LoF obs/exp: 4 / 18.9Missense obs/exp: 177 / 216.7Syn Z: -0.94

ClinVar Variant Classifications

69 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic2

VUS55

Likely Benign4

Pathogenic

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	2	0	2
Likely Pathogenic	0	0	0	0	0
VUS	1	54	0	0	55
Likely Benign	0	3	0	1	4
Benign	0	0	0	0	0
Total	1	57	2	1	61

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

31 pathogenic / likely-pathogenic (of 67) ClinVar copy-number / structural variants overlap STARD7 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →