GLEAM-DB

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Input query
Recognized gene
ACADVL, ADAMTS18, ADAR, AGRN, ALMS1 and 5 more
Normalized c.HGVS
c.*2323_*2330dup, c.-206_-205dup, c.-247T>C, c.-76G>A, c.-94C>G and 45 more
Normalized p.HGVS
p.(=), p.(Ala1110Thr), p.(Ala1421Thr), p.(Arg2285His), p.(Arg247Ser) and 39 more
Matching records
2686
PM3-positive records
1

Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.

Download current query results as TSV
Gene Variant Evidence PM3 context Publication Reviewed source Actions
ATM NM_000051.4:c.6505C>T Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.314_315del; c.316_318dup; c.8754_8759del; +6 more
context: Compound heterozygous candidate
 36922933
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
Cancer research communications, 2022
 Supplementary material
Open
ANK3 NM_020987.5:c.1375C>T No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 41417832
CCDC6 Immunostaining in Conjunction with the Rad51 HRD Assay May Expand PARPi Treatment Eligibility in Patients with HGSOC.
Cancer research communications, 2026
 Main article
Open
FANCA NM_000135.4:c.1874G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 40111122
PLK1 Inhibition Induces Synthetic Lethality in Fanconi Anemia Pathway-Deficient Acute Myeloid Leukemia.
Cancer research communications, 2025
 Main article
Open
MSH2 NM_000251.3:c.1145G>C No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 39656055
Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer.
Cancer research communications, 2024
 Main article
Open
MSH2 NM_000251.3:c.1145G>T No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 39656055
Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer.
Cancer research communications, 2024
 Main article
Open
MSH2 NM_000251.3:c.2179G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 39656055
Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer.
Cancer research communications, 2024
 Main article
Open
MSH2 NM_000251.3:c.2179G>C No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 39656055
Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer.
Cancer research communications, 2024
 Main article
Open
BRCA1 NM_007294.4:c.4780C>G No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 38282550
Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.
Cancer research communications, 2024
 Main article and supplement
Open
BRCA1 NM_007294.4:c.4780C>T No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 38282550
Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.
Cancer research communications, 2024
 Main article and supplement
Open
MSH6 NM_000179.3:c.1063G>C No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 37910143
Ultra-Deep Sequencing Reveals the Mutational Landscape of Classical Hodgkin Lymphoma.
Cancer research communications, 2023
 Main article and supplement
Open
ATM NM_000051.4:c.1079A>G No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 37637936
Multicellular Complex Tumor Spheroid Response to DNA Repair Inhibitors in Combination with DNA-damaging Drugs.
Cancer research communications, 2023
 Main article
Open
ATM NM_000051.4:c.1079A>T No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 37637936
Multicellular Complex Tumor Spheroid Response to DNA Repair Inhibitors in Combination with DNA-damaging Drugs.
Cancer research communications, 2023
 Main article
Open
ATM NM_000051.4:c.743G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 37637936
Multicellular Complex Tumor Spheroid Response to DNA Repair Inhibitors in Combination with DNA-damaging Drugs.
Cancer research communications, 2023
 Main article
Open
ATM NM_000051.4:c.1369C>G No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 37377903
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Cancer research communications, 2023
 Main article and supplement
Open
ATM NM_000051.4:c.7271T>C No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 37377903
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Cancer research communications, 2023
 Main article and supplement
Open
PMS2 NM_000535.7:c.1961C>T No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 36875157
Tumor-independent Detection of Inherited Mismatch Repair Deficiency for the Diagnosis of Lynch Syndrome with High Specificity and Sensitivity.
Cancer research communications, 2023
 Main article
Open
ATM NM_000051.4:c.3385G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 36969747
Circulating Tumor DNA Monitoring Reveals Molecular Progression before Radiologic Progression in a Real-life Cohort of Patients with Advanced Non-small Cell Lung Cancer.
Cancer research communications, 2022
 Main article and supplement
Open
FANCA NM_000135.4:c.1153C>G No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 36969747
Circulating Tumor DNA Monitoring Reveals Molecular Progression before Radiologic Progression in a Real-life Cohort of Patients with Advanced Non-small Cell Lung Cancer.
Cancer research communications, 2022
 Main article and supplement
Open
CD79A NM_001783.4:c.371G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 36969747
Circulating Tumor DNA Monitoring Reveals Molecular Progression before Radiologic Progression in a Real-life Cohort of Patients with Advanced Non-small Cell Lung Cancer.
Cancer research communications, 2022
 Main article and supplement
Open
PAX5 NM_016734.3:c.914G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 36969747
Circulating Tumor DNA Monitoring Reveals Molecular Progression before Radiologic Progression in a Real-life Cohort of Patients with Advanced Non-small Cell Lung Cancer.
Cancer research communications, 2022
 Main article and supplement
Open