Full data view for gene PALB2

Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
Information The variants shown are described using the NM_024675.3 transcript reference sequence.

2706 entries on 28 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-5679767_*2084573del r.0? p.0? - Unknown - pathogenic g.21530207_29332245del g.21518886_29320924del - - CLN3_000009 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
-/- 1 c.-359G>C r.(?) p.(=) - Unknown - benign g.23652837C>G g.23641516C>G 159C>G, -159G>C - PALB2_010009 - PubMed: Ding 2011 ClinVar-126576 rs515726057 Germline - - NciI- 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-/- 1 c.-359G>C r.(?) p.(=) - Unknown - benign g.23652837C>G g.23641516C>G 159C>G, -159G>C - PALB2_010009 - PubMed: Balia 2010 ClinVar-126576 rs515726057 Germline - - NciI- 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
?/-? 1 c.-227T>G r.(=) p.(=) - Unknown - VUS g.23652705A>C g.23641384A>C - - PALB2_010206 - PubMed: Blanco 2012 ClinVar-126573 rs515726055 Unknown - - - 0 - DNA SEQ - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-?/. - c.-222G>C r.(?) p.(=) - Unknown - likely benign g.23652700C>G - - - DCTN5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1_10 c.-200-?_3113+?del r.? p.? - Unknown - pathogenic g.(23625413_23632682)_(23652678_?)del - c.(?_-200)_(3113+1_3114-1)del - PALB2_000002 - PubMed: Ameziane 2008; contributed by Fanconi Anemia database ClinVar-126574 - Germline - - - 0 - DNA SEQ - - FANCN - - - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ _1_10i c.(?_-200)_(3113+1_3114-1)del r.0? p.0? FA Parent #2 - pathogenic g.(23625413_23632682)_(23652678_?)del - c.-200-?_3113+?del - PALB2_000002 - PubMed: Ameziane 2008 ClinVar-126574 - Germline ? - - 0 - DNA MLPA, SEQ - - FANCN - - - ? ? Netherlands - - 0 - - 1 Johan de Winter
-/-? 1 c.-194C>G r.(=) p.(=) - Unknown - benign g.23652672G>C g.23641351G>C - - PALB2_010011 - PubMed: Zheng 2011 ClinVar-126572 rs515726054 Germline - - AciI+;BslI- 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
?/-? 1 c.-158G>C r.(=) p.(=) - Unknown - VUS g.23652636C>G g.23641315C>G - - PALB2_010205 - PubMed: Casadei2011 ClinVar-126571 rs138200248 Unknown - - - 0 - DNA SEQ - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
?/-? 1 c.-158G>C r.(=) p.(=) - Unknown - VUS g.23652636C>G g.23641315C>G - - PALB2_010205 - PubMed: Wong-Brown2013 ClinVar-126571 rs138200248 Unknown - - - 0 - DNA SEQ - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
?/-? 1 c.-158G>C r.(=) p.(=) - Unknown - VUS g.23652636C>G g.23641315C>G - - PALB2_010205 - PubMed: Blanco 2012 ClinVar-126571 rs138200248 Unknown - - - 0 - DNA SEQ - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
?/-? 1 c.-158G>C r.(=) p.(=) - Unknown - VUS g.23652636C>G g.23641315C>G - - PALB2_010205 - PubMed: Hellebrand 2011 ClinVar-126571 rs138200248 Unknown - - - 0 - DNA SEQ - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-?/. - c.-158G>C r.(?) p.(=) - Unknown - likely benign g.23652636C>G - - - PALB2_010205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/-? 1 c.-145G>C r.(=) p.(=) - Unknown - VUS g.23652623C>G g.23641302C>G - - PALB2_010204 - PubMed: Wong-Brown 2013 ClinVar-126570 rs373698818 Unknown - - - 0 - DNA SEQ - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-/-? 1 c.-104C>T r.(=) p.(=) - Unknown - benign g.23652582G>A g.23641261G>A - - PALB2_010008 - PubMed: Sauty de Chalon 2010 ClinVar-126569 rs180177140 Germline - - MnlI+ 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
?/-? 1 c.-98C>A r.(=) p.(=) - Unknown - VUS g.23652576G>T g.23641255G>T 103G>A - PALB2_010174 - PubMed: Ding 2011 ClinVar-126579 rs515726058 Unknown - - BslI-, HpyAV- 0 - DNA SEQ - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-/- 1 c.-47G>A r.(=) p.(=) - Unknown - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Garcia 2009 ClinVar-126578 rs8053188 Germline - - StuI- 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-/- 1 c.-47G>A r.(=) p.(=) - Unknown - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Cao 2009 ClinVar-126578 rs8053188 Germline - - StuI- 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-/- 1 c.-47G>A r.(=) p.(=) - Unknown - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Balia2010 ClinVar-126578 rs8053188 Germline - - StuI- 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-/- 1 c.-47G>A r.(=) p.(=) - Unknown - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Blanco2012 ClinVar-126578 rs8053188 Germline - - StuI- 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-/- 1 c.-47G>A r.(=) p.(=) - Unknown - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Blanco2013 ClinVar-126578 rs8053188 Germline - - StuI- 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-/- 1 c.-47G>A r.(=) p.(=) - Unknown - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Catucci2012 ClinVar-126578 rs8053188 Germline - - StuI- 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-/- 1 c.-47G>A r.(=) p.(=) - Unknown - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Hellebrand2011 ClinVar-126578 rs8053188 Germline - - StuI- 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-/- 1 c.-47G>A r.(=) p.(=) - Unknown - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Prokofyeva2012 ClinVar-126578 rs8053188 Germline - - StuI- 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-/- 1 c.-47G>A r.(=) p.(=) - Unknown - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Silvestri2010 ClinVar-126578 rs8053188 Germline - - StuI- 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-/- 1 c.-47G>A r.(=) p.(=) - Unknown - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Teo2013 ClinVar-126578 rs8053188 Germline - - StuI- 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-/- 1 c.-47G>A r.(=) p.(=) - Unknown - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Wong-Brown2013 ClinVar-126578 rs8053188 Germline - - StuI- 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-/- 1 c.-47G>A r.(?) p.(=) - Unknown - benign g.23652525C>T g.23641204C>T - - PALB2_010007 - PubMed: Catucci 2014 ClinVar-126578 rs8053188 Germline - - - 0 - DNA SEQ - - cancer, breast, familial - - - - - - - - 0 - - 21 Marc Tischkowitz
-/. - c.-47G>A r.(?) p.(=) - Unknown - benign g.23652525C>T g.23641204C>T PALB2(NM_024675.3):c.-47G>A - PALB2_010007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-47G>A r.(?) p.(=) - Unknown - benign g.23652525C>T g.23641204C>T PALB2(NM_024675.3):c.-47G>A - PALB2_010007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/-? 1 c.-46G>A r.(=) p.(=) - Unknown - benign g.23652524C>T g.23641203C>T - - PALB2_010010 - PubMed: Erkko 2007 ClinVar-126577 rs180177141 Germline - - AhdI+;StuI- 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-?/. - c.-33G>A r.(?) p.(=) - Unknown - likely benign g.23652511C>T g.23641190C>T - - PALB2_010372 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/-? 1 c.-25C>A r.(=) p.(=) - Unknown - VUS g.23652503G>T g.23641182G>T 1(-25) C>A - PALB2_010173 - PubMed: Casadei 2011 ClinVar-126575 rs515726056 Unknown - - - 0 - DNA SEQ - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
?/. - c.-24T>C r.(?) p.(=) - Unknown - VUS g.23652502A>G g.23641181A>G PALB2(NM_024675.3):c.-24T>C - DCTN5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-24T>C r.(?) p.(=) - Unknown - likely benign g.23652502A>G g.23641181A>G PALB2(NM_024675.3):c.-24T>C - DCTN5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-2C>G r.(?) p.(=) - Parent #1 - VUS g.23652480G>C g.23641159G>C - - PALB2_010558 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - 0 - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - 0 - - 1 Yukihide Momozawa
?/. - c.1A>G r.? p.? - Parent #1 - NA g.23652478T>C - chr16_23652478_T_C - PALB2_011238 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.2T>C r.? p.? - Parent #1 - NA g.23652477A>G - chr16_23652477_A_G - PALB2_011237 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+?/. - c.3G>A r.(?) p.(Met1?) - Unknown - likely pathogenic g.23652476C>T g.23641155C>T - - PALB2_010371 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.4G>C r.(?) p.(Asp2His) - Parent #1 - NA g.23652475C>G - chr16_23652475_C_G - PALB2_011236 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.7G>T r.(?) p.(Glu3*) - Parent #1 - NA g.23652472C>A - chr16_23652472_C_A - PALB2_011235 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 3 BRIDGES consortium
-?/. - c.10C>T - p.(Pro4Ser) - Unknown - NA g.23652469G>A g.23641148G>A - - PALB2_010716 expression cloning HR efficiency 97,61%, PARPi resistance 72,70% PubMed: Boonen 2019 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 1 c.11C>T r.(?) p.(Pro4Leu) - Unknown - VUS g.23652468G>A g.23641147G>A - - PALB2_010175 - PubMed: Wong-Brown 2013 ClinVar-126593 rs45619737 Unknown - - - 0 - DNA SEQ - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
?/. - c.11C>T r.(?) p.(Pro4Leu) - Parent #1 - NA g.23652468G>A - chr16_23652468_G_A - PALB2_010175 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 3 BRIDGES consortium
?/. - c.11C>T r.(?) p.(Pro4Leu) - Parent #1 - NA g.23652468G>A - chr16_23652468_G_A - PALB2_010175 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 7/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 7 BRIDGES consortium
?/? 1 c.13C>T r.(?) p.(Pro5Ser) - Unknown - VUS g.23652466G>A g.23641145G>A - - PALB2_010176 - PubMed: Casadei 2011 ClinVar-126600 rs377085677 Unknown - - - 0 - DNA SEQ - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
?/? 1 c.13C>T r.(?) p.(Pro5Ser) - Unknown - VUS g.23652466G>A g.23641145G>A - - PALB2_010176 - PubMed: Catucci 2014 ClinVar-126600 rs377085677 Germline - - - 0 - DNA SEQ - - cancer, breast, familial - - - - - - - - 0 - - 2 Marc Tischkowitz
./. - c.13C>T r.(?) p.(Pro5Ser) - Parent #1 - VUS g.23652466G>A g.23641145G>A - - PALB2_010176 - Thibodeau lab (Mayo Clinic) ClinVar-126600 rs377085677 Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
-?/. - c.13C>T - p.(Pro5Ser) - Unknown - NA g.23652466G>A g.23641145G>A - - PALB2_010176 expression cloning HR efficiency 62,31%, PARPi resistance 95,74% PubMed: Boonen 2019 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.13C>T r.(?) p.(Pro5Ser) - Parent #1 - NA g.23652466G>A - chr16_23652466_G_A - PALB2_010176 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 8/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 8 BRIDGES consortium
?/. - c.13C>T r.(?) p.(Pro5Ser) - Parent #1 - NA g.23652466G>A - chr16_23652466_G_A - PALB2_010176 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
-?/. - c.15C>G r.(?) p.(Pro5=) - Unknown - likely benign g.23652464G>C g.23641143G>C - - DCTN5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.17G>A r.(?) p.(Gly6Glu) - Unknown - VUS g.23652462C>T - - - DCTN5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.18G>T r.(?) p.(Gly6=) - Unknown - likely pathogenic g.23652461C>A g.23641140C>A PALB2(NM_024675.3):c.18G>T (p.G6=) - DCTN5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.18G>T r.(?) p.(Gly6=) - Unknown - likely pathogenic g.23652461C>A - PALB2(NM_024675.3):c.18G>T (p.G6=) - DCTN5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.21G>T r.(?) p.(Lys7Asn) - Parent #1 - VUS g.23652458C>A g.23641137C>A - - PALB2_010346 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
?/. - c.22C>A r.(?) p.(Pro8Thr) - Parent #1 - NA g.23652457G>T - chr16_23652457_G_T - PALB2_011234 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.22C>A r.(?) p.(Pro8Thr) - Parent #1 - NA g.23652457G>T - chr16_23652457_G_T - PALB2_011234 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/-? 1 c.23C>T r.(?) p.(Pro8Leu) - Unknown - VUS g.23652456G>A g.23641135G>A - - PALB2_010012 - PubMed: Ding 2011 ClinVar-126652 rs150390726 Germline - - BseRI+ 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-?/-? 1 c.23C>T r.(?) p.(Pro8Leu) - Parent #1 - likely benign g.23652456G>A g.23641135G>A - - PALB2_010012 - PubMed: Tung 2014 ClinVar-126652 rs150390726 Unknown - - - 0 - DNA SEQ - - cancer, breast, familial - - - F - United States - - 0 - - 1 Marc Tischkowitz
./. - c.23C>T r.(?) p.(Pro8Leu) - Parent #1 - VUS g.23652456G>A g.23641135G>A - - PALB2_010012 - Thibodeau lab (Mayo Clinic) ClinVar-126652 rs150390726 Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 2 Melissa DeRycke
-?/. - c.23C>T - p.(Pro8Leu) - Unknown - NA g.23652456G>A g.23641135G>A - - PALB2_010012 expression cloning relative homology directed repair 7.1 PubMed: Wiltshire 2020 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.25C>T r.(?) p.(Leu9Phe) - Parent #1 - VUS g.23652454G>A g.23641133G>A - - PALB2_010556 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 5/7051 cases breast cancer - 0 - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - 0 - - 5 Yukihide Momozawa
?/. 1 c.25C>T r.(?) p.(Leu9Phe) - Parent #1 - VUS g.23652454G>A g.23641133G>A - - PALB2_010556 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 12/11241 controls - 0 - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 12 Yukihide Momozawa
?/. - c.25C>T r.(?) p.(Leu9Phe) - Parent #1 - VUS g.23652454G>A g.23641133G>A - - PALB2_010556 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 7/12490 controls - 0 - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - 0 - - 7 Yukihide Momozawa
-/-? 1 c.26T>A r.(?) p.(Leu9His) - Unknown - benign g.23652453A>T g.23641132A>T - - PALB2_010013 - PubMed: Prokofyeva 2012 ClinVar-126674 rs515726092 Germline - - MslI+;DdeI- 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-?/. - c.26T>A - p.(Leu9His) - Unknown - NA g.23652453A>T g.23641132A>T - - PALB2_010013 expression cloning relative homology directed repair 5.8 PubMed: Wiltshire 2020 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.30C>G r.(?) p.(Ser10Arg) - Parent #1 - NA g.23652449G>C - chr16_23652449_G_C - PALB2_011233 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.37G>A r.(?) p.Glu13Lys - Unknown ACMG VUS g.23652442C>T g.23641121C>T - - PALB2_010575 ACMG grading: BP5,PM2; Kraus ; 2017. In J Cancer 140: 95 Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. (Descr. as VUS. Suppl. Table 4 (online) Proband tumour type: BC) Shindo ; 2017. J Clin Oncol 35: 3382 Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma. (Pancreatic cancer, susceptibility to?; Classified as VUS. Table A2. Descr. as c.37C>T (reverse)) - - rs373287455 Germline - - - 0 - DNA SEQ-NG - - - - - - F - Germany - - 0 - - 1 Andreas Laner
?/. - c.37G>A r.(?) p.(Glu13Lys) - Parent #1 - NA g.23652442C>T - chr16_23652442_C_T - PALB2_010575 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.40A>G r.(?) p.(Lys14Glu) - Parent #1 - NA g.23652439T>C - chr16_23652439_T_C - PALB2_011232 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+/. - c.43G>T r.(?) p.(Glu15*) - Parent #1 - pathogenic g.23652436C>A g.23641115C>A - - PALB2_010635 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs730881884 Germline - 3/2728 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
?/. - c.47A>G r.(?) p.(Lys16Arg) - Parent #1 - NA g.23652432T>C - chr16_23652432_T_C - PALB2_011231 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+/+ 1 c.48G>A r.32_48del p.(=) - Unknown - pathogenic g.23652431C>T g.23641110C>T - - PALB2_010219 - PubMed: Catucci 2014 - rs587776405 Germline - - - 0 - DNA SEQ - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
+/+ 1 c.48G>A r.32_48del p.(=) - Unknown - pathogenic g.23652431C>T g.23641110C>T - - PALB2_010219 1 families PubMed: Antoniou 2014 - rs587776405 Germline - - - 0 - DNA SEQ - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
?/. - c.48+1G>A r.spl? p.? - Parent #1 - NA g.23652430C>T - chr16_23652430_C_T - PALB2_011230 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/+? 1i c.48+1G>C r.spl? p.? - Unknown - VUS g.23652430C>G g.23641109C>G - - PALB2_010001 - PubMed: Hellebrand 2011 ClinVar-126750 rs515726118 Germline - - - 0 - DNA DHPLC, SEQ - - cancer, breast, familial - - - F - Germany - - 0 - - 1 Alfons Meindl
?/+? 1i c.48+1G>C r.spl? p.? - Unknown - VUS g.23652430C>G g.23641109C>G - - PALB2_010001 - PubMed: Hellebrand 2011 ClinVar-126750 rs515726118 Germline - - TseI+;BanI- 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
?/. - c.48+2T>C r.spl? p.? - Parent #1 - NA g.23652429A>G - chr16_23652429_A_G - PALB2_011229 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
-/-? 1i c.48+27G>T r.(=) p.(=) - Unknown - benign g.23652404C>A g.23641083C>A - - PALB2_010014 - PubMed: Tischkowitz 2012 ClinVar-126751 rs515726119 Germline - - DdeI+;HgaI- 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-/-? 1i c.49-173G>T r.(=) p.(=) - Unknown - benign g.23649623C>A g.23638302C>A IVS1-173G>T - PALB2_010015 - PubMed: Sauty de Chalon 2010 ClinVar-126752 rs515726120 Germline - - HpyCH4V- 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-?/. - c.49-79C>T r.(=) p.(=) - Unknown - likely benign g.23649529G>A - - - DCTN5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/-? 1i c.49-54C>T r.(=) p.(=) - Unknown - VUS g.23649504G>A g.23638183G>A - - PALB2_010209 - PubMed: Wong-Brown 2013 ClinVar-126753 rs515726121 Unknown - - - 0 - DNA SEQ - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-?/. - c.49-54C>T r.(=) p.(=) - Unknown - likely benign g.23649504G>A - - - PALB2_010209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1i c.49-2A>T r.spl? p.? - Unknown - likely pathogenic g.23649452T>A g.23638131T>A - - PALB2_010325 - PubMed: Couch 2015 - rs786203245 Unknown - - - 0 - DNA SEQ - - cancer, breast, familial - PubMed: Couch 2015 - F - ? (unknown) - - 0 - - 1 Marc Tischkowitz
?/. - c.49-2A>T r.spl? p.? - Unknown - VUS g.23649452T>A - PALB2(NM_024675.3):c.49-2A>T - PALB2_010325 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.49-2A>T r.spl? p.? - Parent #1 - NA g.23649452T>A - chr16_23649452_T_A - PALB2_010325 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+/. - c.49-1del r.spl p.? - Parent #1 - pathogenic g.23649451del g.23638130del - - PALB2_010557 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - 0 - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - 0 - - 1 Yukihide Momozawa
+/+ 1i_6i c.(48+1_49-1)_(2586+1_2587-1)del r.spl? p.? FA Paternal (confirmed) - pathogenic g.(23637719_23640524)_(23649451_23652430)del - g.23649450_23640525del - PALB2_000001 inherited from paternal allele (MLPA of EUFA1341 and father suggest deletion 1 copy exons 2-6) PubMed: Xia 2007 - - Unknown ? - - 0 - DNA SEQ, MLPA - - FANCN - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/+ 1i_6i c.(48+1_49-1)_(2586+1_2587-1)del r.spl? p.? - Unknown - pathogenic g.(23637719_23640524)_(23649451_23652430)del - c.49-?_2586+?del - PALB2_000001 - PubMed: Xia 2007 - - Germline - - AccI- 0 - DNA ? - - FANCN - - - - - - - - 0 - - 1 Marc Tischkowitz
+/+ 1i_6i c.(48+1_49-1)_(2586+1_2587-1)del r.spl? p.? - Unknown - pathogenic g.(23637719_23640524)_(23649451_23652430)del - c.49-?_2586+?del - PALB2_000001 - PubMed: Xia 2007; contributed by Fanconi Anemia database - - Germline - - - 0 - DNA SEQ - - FANCN - - - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.50T>G r.(?) p.(Leu17*) - Parent #1 - NA g.23649449A>C - chr16_23649449_A_C - PALB2_011228 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
-?/-? 2 c.53A>G r.(?) p.(Lys18Arg) - Unknown - likely benign g.23649446T>C g.23638125T>C - - PALB2_010016 - PubMed: Tischkowitz2008 ClinVar-126758 rs138789658 Germline - - - 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-?/-? 2 c.53A>G r.(?) p.(Lys18Arg) - Unknown - likely benign g.23649446T>C g.23638125T>C - - PALB2_010016 - PubMed: Ding2011 ClinVar-126758 rs138789658 Germline - - - 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-?/-? 2 c.53A>G r.(?) p.(Lys18Arg) - Unknown - likely benign g.23649446T>C g.23638125T>C - - PALB2_010016 - PubMed: Zheng 2012 ClinVar-126758 rs138789658 Germline - - - 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
-?/-? 2 c.53A>G r.(?) p.(Lys18Arg) - Unknown - likely benign g.23649446T>C g.23638125T>C - - PALB2_010016 - PubMed: Bogdanova 2011 ClinVar-126758 rs138789658 Germline - - - 0 - DNA ? - - cancer, breast, familial - - - - - - - - 0 - - 1 Marc Tischkowitz
./. - c.53A>G r.(?) p.(Lys18Arg) - Parent #1 - likely benign g.23649446T>C g.23638125T>C - - PALB2_010016 - Thibodeau lab (Mayo Clinic) ClinVar-126758 rs138789658 Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 4 Melissa DeRycke
-/. - c.53A>G r.(?) p.(Lys18Arg) - Unknown - benign g.23649446T>C g.23638125T>C PALB2(NM_024675.3):c.53A>G (p.K18R) - PALB2_010016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.53A>G r.(?) p.(Lys18Arg) - Unknown - benign g.23649446T>C g.23638125T>C PALB2(NM_024675.3):c.53A>G (p.K18R) - PALB2_010016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.53A>G - p.(Lys18Arg) - Unknown - NA g.23649446T>C g.23638125T>C - - PALB2_010016 expression cloning HR efficiency 100,19%, PARPi resistance 94,47%, cisplatin resistance 84,05%, normalised cells 86,76% PubMed: Boonen 2019 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
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