MAGEF1

Chr 3

MAGE family member F1

Also known as: MAGE-F1

NCBI Gene: 64110 ENSG00000177383 UniProt: Q9HAY2 OMIM: 609267

This intronless gene encodes a member of the MAGE superfamily. It is ubiquitously expressed in normal tissues and in tumor cells. This gene includes a microsatellite repeat in the coding region. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

LOEUF 1.68

Clinical Summary— MAGEF1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

38 VUS of 42 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.68LOEUF

pLI 0.003

Z-score 0.42

OE 0.80 (0.39–1.68)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.04Z-score

OE missense 1.01 (0.89–1.15)

173 obs / 171.4 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.80 (0.39–1.68)

0≤0.351.4

Missense OE?1.01 (0.89–1.15)

0≤0.61.4

Synonymous OE?0.73

0≤1.21.6

LoF obs/exp: 4 / 5.0Missense obs/exp: 173 / 171.4Syn Z: 1.79

ClinVar Variant Classifications

42 submitted variants in ClinVar

ClinVar

Classification Summary

VUS38

Likely Benign2

Benign2

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	0	38	38
Likely Benign	0	2	2
Benign	1	1	2
Total	1	41	42

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

View in ClinVar →

42 pathogenic / likely-pathogenic (of 43) ClinVar copy-number / structural variants overlap MAGEF1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →