MYMK

Chr 9AR

myomaker, myoblast fusion factor

Also known as: MYOMAKER, TMEM226, TMEM8C

NCBI Gene: 389827ENSG00000187616UniProt: A6NI61

Involved in myoblast fusion. Located in plasma membrane. Implicated in Carey-Fineman-Ziter syndrome. [provided by Alliance of Genome Resources, Apr 2025]

Primary Disease Associations & Inheritance

Carey-Fineman-Ziter syndromeMIM #254940
AR
0
Active trials
45
Pathogenic / LP
125
ClinVar variants
14
Pubs (1 yr)
0.8
Missense Z
1.28
LOEUF
Clinical Summary— MYMK
🧬
Gene-Disease Validity (ClinGen)
obsolete Carey-Fineman-Ziter syndrome · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
45 Pathogenic / Likely Pathogenic· 52 VUS of 125 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.28LOEUF
pLI 0.000
Z-score 0.94
OE 0.68 (0.39–1.28)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.76Z-score
OE missense 0.82 (0.71–0.96)
119 obs / 144.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.68 (0.39–1.28)
0≤0.351.4
Missense OE0.82 (0.71–0.96)
0≤0.61.4
Synonymous OE0.97
0≤1.21.6
LoF obs/exp: 7 / 10.2Missense obs/exp: 119 / 144.8Syn Z: 0.20
DN
DN
0.75top 25%
GOF
0.5759th %ile
LOF
0.3455th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

125 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic40
Likely Pathogenic5
VUS52
Likely Benign11
Benign17
40
Pathogenic
5
Likely Pathogenic
52
VUS
11
Likely Benign
17
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
3
37
0
40
Likely Pathogenic
0
4
1
0
5
VUS
2
39
11
0
52
Likely Benign
0
0
1
10
11
Benign
0
0
13
4
17
Total2466314125

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

View in ClinVar →

MYMK · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients