Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
BRCA1
Normalized c.HGVS
c.*465G>A, c.*485G>A, c.*869_*873del, c.*872_*873del, c.-20+3A>G and 44 more
Normalized p.HGVS
p.(=), p.(Arg610Ser), p.(Arg7_Glu10delinsGln), p.(Asn550Asp), p.(Asn743Asp) and 31 more
Matching records
2574
PM3-positive records
15
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 |
|---|---|---|---|---|---|---|
| BRCA1 |
NM_007294.4:c.4096+3A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: PM3 evidence context not structured
|
40568666
Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
medRxiv : the preprint server for health sciences, 2025
|
Main article | |
| BRCA1 |
NM_007294.4:c.4096+3A>G
|
Phase-unconfirmed biallelic evidence
Low confidence
|
Possible compound heterozygous with c.2475delC
context: Compound heterozygous candidate
|
39103848
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.
Molecular cancer, 2024
|
Supplementary material | |
| BRCA1 |
NM_007294.4:c.4096G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1127delA
context: Compound heterozygous candidate
|
39103848
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.
Molecular cancer, 2024
|
Supplementary material | |
| BRCA1 |
NM_007294.4:c.4096G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1045G>T
context: Compound heterozygous candidate
|
39103848
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.
Molecular cancer, 2024
|
Supplementary material | |
| BRCA1 |
NM_007294.4:c.4096+1G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38970842
Functional HRD by RAD51 identifies BRCA1 VUS associated with loss of gene function and response to DNA-damaging agents.
ESMO open, 2024
|
Main article | |
| BRCA1 |
NM_007294.4:c.4096+3A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38146508
The emergence of Fanconi anaemia type S: a phenotypic spectrum of biallelic BRCA1 mutations.
Frontiers in oncology, 2023
|
Main article | |
| BRCA1 |
NM_007294.4:c.4096+1G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4738+1G>A; c.5215+1G>A; c.5256+1G>A; +1 more
context: Compound heterozygous candidate
|
38098088
Prevalence of BRCA1, BRCA2, and PALB2 genomic alterations among 924 Taiwanese breast cancer assays with tumor-only targeted sequencing: extended data analysis from the VGH-TAYLOR study.
Breast cancer research : BCR, 2023
|
Supplementary material | |
| BRCA1 |
NM_007294.4:c.4096+1G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2042_2043insT; c.3331_3334delCAAG; p.Q1111fs
context: Compound heterozygous candidate
|
36993400
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.
medRxiv : the preprint server for health sciences, 2023
|
Supplementary material | |
| BRCA1 |
NM_007294.4:c.4096+1G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3331_3334delCAAG; p.Q1111fs
context: Compound heterozygous candidate
|
36993400
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.
medRxiv : the preprint server for health sciences, 2023
|
Supplementary material | |
| BRCA1 |
NM_007294.4:c.4096+3A>G
|
Phase-unconfirmed biallelic evidence
Low confidence
|
Possible compound heterozygous with c.1045G>T; c.1127delA; c.2042_2043insT; +5 more
context: Compound heterozygous candidate
|
36993400
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.
medRxiv : the preprint server for health sciences, 2023
|
Supplementary material | |
| BRCA1 |
NM_007294.4:c.4726G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
34589950
Somatic and Germline BRCA 1 and 2 Mutations in Advanced NSCLC From the SAFIR02-Lung Trial.
JTO clinical and research reports, 2020
|
Supplementary material | |
| BRCA1 |
NM_007294.4:c.4096+3A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
31683985
The BRCA1 c.4096+3A>G Variant Displays Classical Characteristics of Pathogenic BRCA1 Mutations in Hereditary Breast and Ovarian Cancers, But Still Allows Homozygous Viability.
Genes, 2019
|
Main article | |
| BRCA1 |
NM_007294.4:c.442-1G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
28991257
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature genetics, 2017
|
Supplementary material | |
| BRCA1 |
NM_007294.4:c.4730C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
27940552
And-1 coordinates with CtIP for efficient homologous recombination and DNA damage checkpoint maintenance.
Nucleic acids research, 2017
|
Main article | |
| BRCA1 |
NM_007294.4:c.4730C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
22034435
BRCA1 tumor suppression depends on BRCT phosphoprotein binding, but not its E3 ligase activity.
Science (New York, N.Y.), 2011
|
Main article | |
| BRCA1 |
NM_007294.4:c.4096+3A>G
|
Other Patient-Level Evidence
High confidence
|
No PM3 candidate genotype identified |
39596525
Biallelic Germline BRCA1 Frameshift Mutations Associated with Isolated Diminished Ovarian Reserve.
International journal of molecular sciences, 2024
|
Main article | |
| BRCA1 |
NM_007294.4:c.4096+1G>A
|
Other Patient-Level Evidence
High confidence
|
No PM3 candidate genotype identified |
39103848
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.
Molecular cancer, 2024
|
Supplementary material | |
| BRCA1 |
NM_007294.4:c.4096+1G>T
|
Other Patient-Level Evidence
High confidence
|
No PM3 candidate genotype identified |
39103848
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.
Molecular cancer, 2024
|
Supplementary material | |
| BRCA1 |
NM_007294.4:c.4836G>C
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
37760409
F-box DNA Helicase 1 (FBH1) Contributes to the Destabilization of DNA Damage Repair Machinery in Human Cancers.
Cancers, 2023
|
Main article and supplement | |
| BRCA1 |
NM_007294.4:c.4096G>A
|
Other Patient-Level Evidence
High confidence
|
No PM3 candidate genotype identified |
36993400
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.
medRxiv : the preprint server for health sciences, 2023
|
Supplementary material | |