BRMS1

Chr 11

BRMS1 transcriptional repressor and anoikis regulator

NCBI Gene: 25855ENSG00000174744UniProt: Q9HCU9

This gene reduces the metastatic potential, but not the tumorogenicity, of human breast cancer and melanoma cell lines. The protein encoded by this gene localizes primarily to the nucleus and is a component of the mSin3a family of histone deacetylase complexes (HDAC). The protein contains two coiled-coil motifs and several imperfect leucine zipper motifs. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

68
ClinVar variants
11
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— BRMS1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
11 Pathogenic / Likely Pathogenic· 51 VUS of 68 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.14LOEUF
pLI 0.000
Z-score 1.13
OE 0.71 (0.46–1.14)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.11Z-score
OE missense 0.98 (0.86–1.11)
166 obs / 169.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.71 (0.46–1.14)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.98 (0.86–1.11)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.91
0≤1.21.6
LoF obs/exp: 13 / 18.2Missense obs/exp: 166 / 169.9Syn Z: 0.56

ClinVar Variant Classifications

68 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic9
Likely Pathogenic2
VUS51
Likely Benign4
Benign2
9
Pathogenic
2
Likely Pathogenic
51
VUS
4
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
9
0
9
Likely Pathogenic
0
0
2
0
2
VUS
0
45
6
0
51
Likely Benign
0
4
0
0
4
Benign
0
0
0
2
2
Total04917268

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

View in ClinVar →

Protein Context — Lollipop Plot

BRMS1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Breast carcinoma metastasis suppressor gene 1 (BRMS1): update on its role as the suppressor of cancer metastases.
Kodura MA et al.·Cancer Metastasis Rev
2015Review
Exploring the prognostic value of BRMS1 + microglia based on single-cell anoikis regulator patterns in the immunologic microenvironment of GBM.
Zhao S et al.·J Neurooncol
2024
BRMS1 and HPA as Progression, Clinical Biological Behaviors, and Poor Prognosis-related Biomarkers for Gallbladder Adenocarcinoma.
Yang Z et al.·Appl Immunohistochem Mol Morphol
2016
Cloning and characterization of a novel human BRMS1 transcript variant in hepatocellular carcinoma cells.
Wu J et al.·Cancer Lett
2013
Multiple forms of BRMS1 are differentially expressed in the MCF10 isogenic breast cancer progression model.
Hurst DR et al.·Clin Exp Metastasis
2009Functional
Loss of BRMS1 promotes a mesenchymal phenotype through NF-κB-dependent regulation of Twist1.
Liu Y et al.·Mol Cell Biol
2015
Distinct expression and function of breast cancer metastasis suppressor 1 in mutant P53 glioblastoma.
Babu D et al.·Cell Oncol (Dordr)
2022
[Expression of SATB1 and BRMS1 in ovarian serous adenocarcinoma and its relationship with clinieopathological features].
Zhao XL et al.·Sichuan Da Xue Xue Bao Yi Xue Ban
2011
Low BRMS1 expression promotes nasopharyngeal carcinoma metastasis in vitro and in vivo and is associated with poor patient survival.
Cui RX et al.·BMC Cancer
2012
[Expression of gene BRMS1 and CD44v6 protein in supraglottic laryngeal carcinoma and its clinical significance].
Guo X et al.·Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
2009
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools