Search GLEAM-DB / CoGenEx-PM3
Advanced search and filters
Input query
Recognized gene
BRCA2
Normalized c.HGVS
c.-2A>G, c.10175A>C, c.10202C>G, c.10220A>T, c.1183T>C and 44 more
Normalized p.HGVS
p.(=), p.(Ala262Val), p.(Arg118Leu), p.(Arg2602Lys), p.(Arg2973Gly) and 44 more
Matching records
3690
PM3-positive records
17
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.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| BRCA2 |
NM_000059.4:c.8471G>C
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.6468_6469delTC
context: Confirmed in trans
|
32099950
Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.
Journal of the Endocrine Society, 2019
|
Main article | |
| BRCA2 |
NM_000059.4:c.9302T>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.9097_9098insT
context: Compound heterozygous candidate
|
40854122
G-quadruplexes as a source of vulnerability in BRCA2-deficient granule cell progenitors and medulloblastoma.
Proceedings of the National Academy of Sciences of the United States of America, 2025
|
Main article | |
| BRCA2 |
NM_000059.4:c.7670C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.8356G > A; A2786T; pA2786T
context: Compound heterozygous candidate
|
38773604
In silico analysis of the wild-type and mutant-type of BRCA2 gene.
Journal of translational medicine, 2024
|
Main article | |
| BRCA2 |
NM_000059.4:c.7691C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.10234A > G; c.1114A > C; c.7397 T > C
context: Compound heterozygous candidate
|
38439896
Germline RECQL gene mutations in Chinese patients with breast cancer.
Frontiers in medicine, 2024
|
Main article | |
| BRCA2 |
NM_000059.4:c.4141_4143del
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Homozygous for query variant
context: Homozygous evidence
|
38398132
Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.
Cancers, 2024
|
Supplementary material | |
| BRCA2 |
NM_000059.4:c.7052C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with dup exons 15-18
context: Compound heterozygous candidate
|
37803017
Genomic analysis of advanced breast cancer tumors from talazoparib-treated gBRCA1/2mut carriers in the ABRAZO study.
NPJ breast cancer, 2023
|
Supplementary material | |
| BRCA2 |
NM_000059.4:c.7558C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
37149903
Germline drivers of gynecologic carcinosarcomas.
Gynecologic oncology, 2023
|
Main article | |
| BRCA2 |
NM_000059.4:c.8524C>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
34680915
Fanconi Anaemia, Childhood Cancer and the BRCA Genes.
Genes, 2021
|
Main article | |
| BRCA2 |
NM_000059.4:c.8057T>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
33609447
Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.
American journal of human genetics, 2021
|
Main article | |
| BRCA2 |
NM_000059.4:c.4446_4451dup
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Possible compound heterozygous with c.101C>T; c.2428C>T
context: Compound heterozygous candidate
|
33489052
The Importance of Targeted Next-Generation Sequencing Usage in Cytogenetically Normal Myeloid Malignancies.
Mediterranean journal of hematology and infectious diseases, 2021
|
Main article | |
| BRCA2 |
NM_000059.4:c.316G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.2806_2809del; p.(Ala938Profs*21)
context: Confirmed in trans
|
32641407
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.
Cancer research, 2020
|
Main article | |
| BRCA2 |
NM_000059.4:c.9828A>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.517-4C>G; c.99A>G; Glu33=; +1 more
context: Compound heterozygous candidate
|
32438681
Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.
Cancers, 2020
|
Main article | |
| BRCA2 |
NM_000059.4:c.8473G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
31853058
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Genetics in medicine : official journal of the American College of Medical Genetics, 2020
|
Supplementary material | |
| BRCA2 |
NM_000059.4:c.97G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with W31X
context: Compound heterozygous candidate
|
31822498
TBCRC 032 IB/II Multicenter Study: Molecular Insights to AR Antagonist and PI3K Inhibitor Efficacy in Patients with AR(+) Metastatic Triple-Negative Breast Cancer.
Clinical cancer research : an official journal of the American Association for Cancer Research, 2020
|
Main article | |
| BRCA2 |
NM_000059.4:c.7828G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: PM3 evidence context not structured
|
31090900
Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.
Annals of oncology : official journal of the European Society for Medical Oncology, 2019
|
Supplementary material | |
| BRCA2 |
NM_000059.4:c.8774A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: PM3 evidence context not structured
|
30675319
BRCA mutation screening and patterns among high-risk Lebanese subjects.
Hereditary cancer in clinical practice, 2019
|
Main article | |
| BRCA2 |
NM_000059.4:c.7558C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.657_658delTG
context: Compound heterozygous candidate
|
30420702
Defective DNA damage repair leads to frequent catastrophic genomic events in murine and human tumors.
Nature communications, 2018
|
Main article | |
| BRCA2 |
NM_000059.4:c.7871A>G
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
37216690
Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.
Blood, 2023
|
Supplementary material | |
| BRCA2 |
NM_000059.4:c.7558C>G
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
34570441
The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.
Cancer biology & medicine, 2021
|
Main article and supplement | |
| BRCA2 |
NM_000059.4:c.4960T>C
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
34178674
Prevalence and Spectrum of Germline BRCA1 and BRCA2 Variants of Uncertain Significance in Breast/Ovarian Cancer: Mysterious Signals From the Genome.
Frontiers in oncology, 2021
|
Main article | |