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Recognized gene
ATM, BRCA1, BRCA2, BRIP1, FANCA and 12 more
Normalized c.HGVS
c.104T>C, c.1103G>T, c.1171A>G, c.121G>A, c.1226A>G and 45 more
Normalized p.HGVS
p.(Ala1173Asp), p.(Ala1173Val), p.(Arg1425Gly), p.(Arg217Ser), p.(Arg2520Gly) and 45 more
Matching records
879
PM3-positive records
13
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
|
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 | |
| ATM |
NM_000051.4:c.5734G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.6358G>A; c.7759G>A; p.E2120K; +1 more
context: Compound heterozygous candidate
|
36387164
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Frontiers in oncology, 2022
|
Supplementary material | |
| ATM |
NM_000051.4:c.7759G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1596C>A; c.4507C>T; p.C532*; +1 more
context: Compound heterozygous candidate
|
36387164
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Frontiers in oncology, 2022
|
Supplementary material | |
| LAMA2 |
NM_000426.4:c.7109C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4787T>C; c.7075C>T; c.7399A>G; +3 more
context: Compound heterozygous candidate
|
36387164
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Frontiers in oncology, 2022
|
Supplementary material | |
| FAT4 |
NM_001291303.3:c.13180C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.14609T>A; c.14612C>T; p.L4870*; +1 more
context: Compound heterozygous candidate
|
36387164
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Frontiers in oncology, 2022
|
Supplementary material | |
| SZT2 |
NM_001365999.1:c.9821G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.247C>A; c.4085A>G; c.6376C>T; +3 more
context: Compound heterozygous candidate
|
36387164
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Frontiers in oncology, 2022
|
Supplementary material | |
| CPT1A |
NM_001876.4:c.440C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1348G>T; c.727C>T; p.D450Y; +1 more
context: Compound heterozygous candidate
|
36387164
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Frontiers in oncology, 2022
|
Supplementary material | |
| LRP4 |
NM_002334.4:c.4493G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1079T>G; c.1081A>T; p.N361Y; +1 more
context: Compound heterozygous candidate
|
36387164
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Frontiers in oncology, 2022
|
Supplementary material | |
| PMS2 |
NM_000535.7:c.716T>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.904-2A>C
context: Compound heterozygous candidate
|
36091175
An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes.
Frontiers in oncology, 2022
|
Main article | |
| ATM |
NM_000051.4:c.7466C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1372_1382dup; p.E461Dfs*16; dup
context: Compound heterozygous candidate
|
35865471
Mesonephric-Like Adenocarcinoma of Uterine Corpus: A Clinicopathological and Targeted Genomic Profiling Study in a Single Institution.
Frontiers in oncology, 2022
|
Main article | |
| SDHA |
NM_004168.4:c.698G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1351C>T; Arg171Cys; Arg451Cys; +5 more
context: Compound heterozygous candidate
|
35059314
SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor.
Frontiers in oncology, 2022
|
Main article | |
| PIGQ |
NM_004204.5:c.1345G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
33344222
GPI-AP: Unraveling a New Class of Malignancy Mediators and Potential Immunotherapy Targets.
Frontiers in oncology, 2020
|
Main article | |
| SDHA |
NM_004168.4:c.1357G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.818C > T; p.T2731I
context: Compound heterozygous candidate
|
23730622
Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors.
Frontiers in oncology, 2013
|
Main article | |
| FANCI |
NM_001113378.2:c.236G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
37901334
Clinicopathological and molecular analysis of microsatellite instability in prostate cancer: a multi-institutional study in China.
Frontiers in oncology, 2023
|
Main article | |
| MSH6 |
NM_000179.3:c.3256C>G
|
Other Patient-Level Evidence
Low confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
36531003
Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis.
Frontiers in oncology, 2022
|
Supplementary material | |
| MUTYH |
NM_001048174.2:c.785G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
36387175
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
Frontiers in oncology, 2022
|
Main article and supplement | |
| TTN |
NM_001267550.2:c.12845T>A
|
Other Patient-Level Evidence
High confidence
|
No PM3 candidate genotype identified |
36387164
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Frontiers in oncology, 2022
|
Supplementary material | |
| LAMA5 |
NM_005560.6:c.7537C>T
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
36387164
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Frontiers in oncology, 2022
|
Supplementary material | |
| CPAMD8 |
NM_015692.5:c.2586G>T
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
36387164
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Frontiers in oncology, 2022
|
Supplementary material | |
| 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 | |