RMI2

Chr 16

RecQ mediated genome instability 2

Also known as: BLAP18, C16orf75

NCBI Gene: 116028 ENSG00000175643 UniProt: Q96E14 OMIM: 612426

RMI2 encodes an essential component of the RMI complex that regulates homologous recombination DNA repair, sister chromatid segregation, and is required for the stability and function of the BLM helicase complex. Mutations cause Bloom syndrome, an autosomal recessive disorder characterized by severe growth deficiency, immunodeficiency, and predisposition to cancer. The gene shows low constraint against loss-of-function variants (pLI 0.019, LOEUF 1.91), consistent with recessive inheritance patterns.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

RMI2 is a component of the BLM (RECQL3; MIM 604610) complex, which plays a role in homologous recombination-dependent DNA repair and is essential for genome stability (Xu et al., 2008 [PubMed 18923082]).[supplied by OMIM, Nov 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

LOEUF 1.91

Clinical Summary— RMI2

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Population Constraint (gnomAD)

Low constraint (pLI 0.02) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

46 VUS of 49 total submissions

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GeneReview available — RMI2

Authoritative clinical overview · Recommended first read

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.91LOEUF

pLI 0.019

Z-score -0.35

OE 1.31 (0.43–1.91)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.62Z-score

OE missense 1.30 (1.02–1.66)

45 obs / 34.7 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.31 (0.43–1.91)

0≤0.351.4

Missense OE?1.30 (1.02–1.66)

0≤0.61.4

Synonymous OE?1.54

0≤1.21.6

LoF obs/exp: 2 / 1.5Missense obs/exp: 45 / 34.7Syn Z: -1.49

ClinVar Variant Classifications

49 submitted variants in ClinVar

ClinVar

Classification Summary

VUS46

Likely Benign2

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	46	46
Likely Benign	2	2
Benign	0	0
Total	48	48

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

View in ClinVar →

16 pathogenic / likely-pathogenic (of 31) ClinVar copy-number / structural variants overlap RMI2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →