SAMD7

Chr 3

sterile alpha motif domain containing 7

Also known as: MDCD

NCBI Gene: 344658 ENSG00000187033 UniProt: Q7Z3H4

Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific; chromatin binding activity; and histone binding activity. Predicted to be involved in negative regulation of DNA-templated transcription; negative regulation of gene expression, epigenetic; and retinal rod cell development. Predicted to be located in cytoplasm. Predicted to be part of PRC1 complex. Predicted to be active in nucleus. Implicated in macular degeneration. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMacular dystrophy with or without cone dysfunction

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.05

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.05LOEUF

pLI 0.000

Z-score 1.39

OE 0.65 (0.42–1.05)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.18Z-score

OE missense 0.97 (0.87–1.08)

241 obs / 249.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.65 (0.42–1.05)

0≤0.351.4

Missense OE?0.97 (0.87–1.08)

0≤0.61.4

Synonymous OE?1.01

0≤1.21.6

LoF obs/exp: 12 / 18.4Missense obs/exp: 241 / 249.0Syn Z: -0.10

Background carrier burden — how many people carry a rare variant somewhere in SAMD7?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 100

608 rare PASS variants

Rare truncating (LoF)

1 in 1,700

87 rare PASS variants

Rare synonymous (reference)

1 in 480

203 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SAMD7. 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 130	1 in 1,800
South Asian	~43k	1 in 84	1 in 2,700
Remaining (unassigned)	~30k	1 in 110	1 in 1,400
European (Finnish)	~27k	1 in 440	1 in 810
Admixed American	~22k	1 in 130	1 in 1,500
African / African American	~21k	1 in 79	1 in 1,900
East Asian	~20k	1 in 160	1 in 2,000
Ashkenazi Jewish	~13k	1 in 860	≈ 1 in 4,200
Middle Eastern	~2,884	1 in 68	1 in 580

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 8 marginal. Genomes: all 7.? see exons ↓