GLEAM-DB

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Input query
Recognized gene
AARS2, ABAT, ABHD12, ACAD8, ACAD9 and 11 more
Normalized c.HGVS
c.1009C>A, c.1019C>A, c.1019C>G, c.1019C>T, c.1048G>A and 45 more
Normalized p.HGVS
p.(=), p.(Ala329Thr), p.(Ala340Asp), p.(Ala340Gly), p.(Ala340Val) and 45 more
Matching records
879
PM3-positive records
25

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
MUTYH NM_001048174.2:c.1103G>T Phase-unconfirmed biallelic evidence
Needs review
Homozygous for query variant
context: Homozygous evidence
 39301547
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Frontiers in oncology, 2024
 Supplementary material
Open
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
Open
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
Open
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
Open
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
Open
EDNRB NM_001122659.3:c.973G>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.955C>G; p.R319G
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
Open
TTN NM_001267550.2:c.12845T>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.100540A>T; c.15113T>A; c.16064T>A; +43 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
Open
TTN NM_001267550.2:c.34670C>T Phase-unconfirmed biallelic evidence
Needs review
Possible compound heterozygous with c.13282+46025C>T; c.13657+46025C>T; c.13858+46025C>T; +2 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
Open
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
Open
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
Open
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
Open
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
Open
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
Open
MSH6 NM_000179.3:c.2731C>G Phase-unconfirmed biallelic evidence
Needs review
Possible compound heterozygous with frameshift; single nucleotide deletion
context: Compound heterozygous candidate
 35903677
Case Report: Malignant Brain Tumors in Siblings With MSH6 Mutations.
Frontiers in oncology, 2022
 Main article
Open
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
Open
MSH6 NM_000179.3:c.3310_3312del Phase-unconfirmed biallelic evidence
Not assessed
Possible compound heterozygous with F1088fs; L1330fs; p.Leu1330fs; +1 more
context: Compound heterozygous candidate
 35860583
Patient Derived Organoids Confirm That PI3K/AKT Signalling Is an Escape Pathway for Radioresistance and a Target for Therapy in Rectal Cancer.
Frontiers in oncology, 2022
 Supplementary material
Open
SDHA NM_004168.4:c.512G>C Phase-unconfirmed biallelic evidence
Needs review
Possible compound heterozygous with c.511C>T; Arg171Cys
context: Compound heterozygous candidate
 35059314
SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor.
Frontiers in oncology, 2022
 Main article
Open
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
Open
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
Open
PIGQ NM_004204.5:c.1673del Phase-unconfirmed biallelic evidence
Not assessed
Possible compound heterozygous with c.942+1G>A; p.A377_S389del; p.G17R; +2 more
context: Compound heterozygous candidate
 33344222
GPI-AP: Unraveling a New Class of Malignancy Mediators and Potential Immunotherapy Targets.
Frontiers in oncology, 2020
 Main article
Open