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Recognized gene
BRCA1
Normalized c.HGVS
c.1648A>G, c.2966T>C, c.310A>C, c.329A>G, c.3699del and 44 more
Normalized p.HGVS
p.(Ala1752Thr), p.(Arg1699Pro), p.(Arg1751Leu), p.(Arg1835Pro), p.(Asn550Asp) and 41 more
Matching records
2611
PM3-positive records
31
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.5096G>C
|
Phase-confirmed PM3 evidence
Needs review
|
PM3 evidence identified; partner variant not structured
context: Confirmed in trans
|
39194334
Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management.
Cancer medicine, 2024
|
Main article | |
| 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
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
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
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2042_2043insT
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>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2612_2613insT; p.Phe872fs
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.4096G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1127delA; p.N376fs
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.4096G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1045G>T; E349*
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.4730C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
35409089
Wwox Binding to the Murine Brca1-BRCT Domain Regulates Timing of Brip1 and CtIP Phospho-Protein Interactions with This Domain at DNA Double-Strand Breaks, and Repair Pathway Choice.
International journal of molecular sciences, 2022
|
Main article | |
| BRCA1 |
NM_007294.4:c.4096G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4065_4068del; p.N1355fs
context: Compound heterozygous candidate
|
35281878
Comprehensive Analysis of Somatic Reversion Mutations in Homologous Recombination Repair (HRR) Genes in A Large Cohort of Chinese Pan-cancer Patients.
Journal of Cancer, 2022
|
Main article | |
| BRCA1 |
NM_007294.4:c.5096G>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Confirmed in trans with c.181T>G; p.Cys61Gly
context: Confirmed in trans
|
32843487
Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency.
Journal of medical genetics, 2021
|
Main article | |
| 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.5096G>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.Cys61Gly
context: Compound heterozygous candidate
|
31347298
Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility.
Molecular genetics & genomic medicine, 2019
|
Supplementary material | |