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Recognized gene
PALB2
Normalized c.HGVS
c.1077T>G, c.1081A>T, c.1085T>C, c.1085T>G, c.110G>T and 45 more
Normalized p.HGVS
p.(Ala1017Pro), p.(Ala1017Thr), p.(Arg37Leu), p.(Asn1096Ser), p.(Asn241His) and 44 more
Matching records
1542
PM3-positive records
14
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 |
|---|---|---|---|---|---|---|
| PALB2 |
NM_024675.4:c.104T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38476606
Whole exome sequencing of a novel homozygous missense variant in PALB2 gene leading to Fanconi anaemia complementation group.
Biomedical reports, 2024
|
Main article | |
| PALB2 |
NM_024675.4:c.2831T>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38476606
Whole exome sequencing of a novel homozygous missense variant in PALB2 gene leading to Fanconi anaemia complementation group.
Biomedical reports, 2024
|
Main article | |
| PALB2 |
NM_024675.4:c.2831T>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
38476606
Whole exome sequencing of a novel homozygous missense variant in PALB2 gene leading to Fanconi anaemia complementation group.
Biomedical reports, 2024
|
Main article | |
| PALB2 |
NM_024675.4:c.3209T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38476606
Whole exome sequencing of a novel homozygous missense variant in PALB2 gene leading to Fanconi anaemia complementation group.
Biomedical reports, 2024
|
Main article | |
| PALB2 |
NM_024675.4:c.71T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38476606
Whole exome sequencing of a novel homozygous missense variant in PALB2 gene leading to Fanconi anaemia complementation group.
Biomedical reports, 2024
|
Main article | |
| PALB2 |
NM_024675.4:c.1348A>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3362G>A; p.Gly1121Asp
context: Compound heterozygous candidate
|
38136308
Prevalence of Variants of Uncertain Significance in Patients Undergoing Genetic Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.
Cancers, 2023
|
Main article | |
| PALB2 |
NM_024675.4:c.1708G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with E1665*
context: Compound heterozygous candidate
|
36107942
Pan-cancer analysis of co-occurring mutations in RAD52 and the BRCA1-BRCA2-PALB2 axis in human cancers.
PloS one, 2022
|
Supplementary material | |
| PALB2 |
NM_024675.4:c.104T>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with nonsense mutation
context: Compound heterozygous candidate
|
35819255
BRCA1-Dependent and Independent Recruitment of PALB2-BRCA2-RAD51 in the DNA Damage Response and Cancer.
Cancer research, 2022
|
Main article | |
| PALB2 |
NM_024675.4:c.104T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.Gln61*
context: Compound heterozygous candidate
|
31428676
Homologous recombination DNA repair defects in PALB2-associated breast cancers.
NPJ breast cancer, 2019
|
Main article | |
| PALB2 |
NM_024675.4:c.3047T>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.Q750*
context: Compound heterozygous candidate
|
29903880
Real-time Genomic Characterization of Advanced Pancreatic Cancer to Enable Precision Medicine.
Cancer discovery, 2018
|
Main article | |
| PALB2 |
NM_024675.4:c.104T>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with truncating mutation
context: Compound heterozygous candidate
|
29387807
Perturbation of PALB2 function by the T413S mutation found in small cell lung cancer.
Wellcome open research, 2017
|
Main article | |
| PALB2 |
NM_024675.4:c.3428T>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with truncating mutation
context: Compound heterozygous candidate
|
29387807
Perturbation of PALB2 function by the T413S mutation found in small cell lung cancer.
Wellcome open research, 2017
|
Main article | |
| PALB2 |
NM_024675.4:c.104T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with Q61*; nonsense mutation; truncating mutation
context: Confirmed in trans
|
28319063
Compromised BRCA1-PALB2 interaction is associated with breast cancer risk.
Oncogene, 2017
|
Main article | |
| PALB2 |
NM_024675.4:c.2014G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
24206657
Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2.
BMC medical genomics, 2013
|
Main article | |
| PALB2 |
NM_024675.4:c.104T>C
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41554690
Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.
Nature communications, 2026
|
Main article | |
| PALB2 |
NM_024675.4:c.110G>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41554690
Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.
Nature communications, 2026
|
Main article | |
| PALB2 |
NM_024675.4:c.2660T>G
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41554690
Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.
Nature communications, 2026
|
Main article | |
| PALB2 |
NM_024675.4:c.2831T>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41554690
Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.
Nature communications, 2026
|
Main article | |
| PALB2 |
NM_024675.4:c.2831T>G
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41554690
Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.
Nature communications, 2026
|
Main article | |
| PALB2 |
NM_024675.4:c.3047T>C
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41554690
Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.
Nature communications, 2026
|
Main article | |