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MPV17L-BMERB1

Chr 16

MPV17L-BMERB1 readthrough

NCBI Gene: 127898555

I notice that no information about protein function, associated diseases, inheritance pattern, or other clinical details has been provided for the MPV17L-BMERB1 gene. Without this essential information, I cannot write an accurate clinical summary following the strict rules you've outlined. Could you please provide the relevant clinical and functional data for this gene?

Research

ResearchGenerating clinical summary…

Clinical Summary— MPV17L-BMERB1

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ClinVar Variants

46 VUS of 71 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/MPV17L-BMERB1?content-type=application/json&expand=1

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

71 submitted variants in ClinVar

ClinVar

Classification Summary

VUS46

Likely Benign6

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	1	45	0	46
Likely Benign	0	5	1	6
Benign	0	0	0	0
Total	1	50	1	52

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

View in ClinVar →

65 pathogenic / likely-pathogenic (of 157) ClinVar copy-number / structural variants overlap MPV17L-BMERB1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →