Unique variants in 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.

604 entries on 7 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     

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     

Owner     
./. 1 - c.-5679767_*2084573del - r.0? p.0? - g.21530207_29332245del g.21518886_29320924del - - CLN3_000009 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
-/- 2 1 c.-359G>C benign r.(?) p.(=) - g.23652837C>G g.23641516C>G 159C>G, -159G>C - PALB2_010009 - PubMed: Ding 2011, PubMed: Balia 2010 ClinVar-126576 rs515726057 Germline - - NciI- - - Marc Tischkowitz
?/-? 1 1 c.-227T>G VUS r.(=) p.(=) - g.23652705A>C g.23641384A>C - - PALB2_010206 - PubMed: Blanco 2012 ClinVar-126573 rs515726055 Unknown - - - - - Marc Tischkowitz
+/+ 1 1_10 c.-200-?_3113+?del pathogenic r.? p.? - 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 - - - - - LOVD-team, but with Curator vacancy
+/+ 1 _1_10i c.(?_-200)_(3113+1_3114-1)del pathogenic r.0? p.0? FA g.(23625413_23632682)_(23652678_?)del - c.-200-?_3113+?del - PALB2_000002 - PubMed: Ameziane 2008 ClinVar-126574 - Germline ? - - - - Johan de Winter
-/-? 1 1 c.-194C>G benign r.(=) p.(=) - g.23652672G>C g.23641351G>C - - PALB2_010011 - PubMed: Zheng 2011 ClinVar-126572 rs515726054 Germline - - AciI+;BslI- - - Marc Tischkowitz
?/-? 4 1 c.-158G>C VUS r.(=) p.(=) - g.23652636C>G g.23641315C>G - - PALB2_010205 - PubMed: Casadei2011, PubMed: Wong-Brown2013, PubMed: Blanco 2012, PubMed: Hellebrand 2011 ClinVar-126571 rs138200248 Unknown - - - - - Marc Tischkowitz
?/-? 1 1 c.-145G>C VUS r.(=) p.(=) - g.23652623C>G g.23641302C>G - - PALB2_010204 - PubMed: Wong-Brown 2013 ClinVar-126570 rs373698818 Unknown - - - - - Marc Tischkowitz
-/-? 1 1 c.-104C>T benign r.(=) p.(=) - g.23652582G>A g.23641261G>A - - PALB2_010008 - PubMed: Sauty de Chalon 2010 ClinVar-126569 rs180177140 Germline - - MnlI+ - - Marc Tischkowitz
?/-? 1 1 c.-98C>A VUS r.(=) p.(=) - g.23652576G>T g.23641255G>T 103G>A - PALB2_010174 - PubMed: Ding 2011 ClinVar-126579 rs515726058 Unknown - - BslI-, HpyAV- - - Marc Tischkowitz
-/-, -/. 14 1 c.-47G>A benign r.(?), r.(=) p.(=) - g.23652525C>T g.23641204C>T PALB2(NM_024675.3):c.-47G>A (p.?) - PALB2_010007 VKGL data sharing initiative Nederland PubMed: Catucci 2014, PubMed: Garcia 2009, PubMed: Cao 2009, PubMed: Balia2010, PubMed: Blanco2012, 7 more items ClinVar-126578 rs8053188 Germline, CLASSIFICATION record - - StuI- - - Marc Tischkowitz, VKGL-NL_NKI, VKGL-NL_Nijmegen
-/-? 1 1 c.-46G>A benign r.(=) p.(=) - g.23652524C>T g.23641203C>T - - PALB2_010010 - PubMed: Erkko 2007 ClinVar-126577 rs180177141 Germline - - AhdI+;StuI- - - Marc Tischkowitz
-?/. 1 - c.-33G>A likely benign r.(?) p.(=) - g.23652511C>T - PALB2(NM_024675.3):c.-33G>A (p.?) - PALB2_010372 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/-? 1 1 c.-25C>A VUS r.(=) p.(=) - g.23652503G>T g.23641182G>T 1(-25) C>A - PALB2_010173 - PubMed: Casadei 2011 ClinVar-126575 rs515726056 Unknown - - - - - Marc Tischkowitz
?/. 1 1 c.-2C>G VUS r.(?) p.(=) - g.23652480G>C - - - PALB2_010558 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
+?/. 1 - c.3G>A likely pathogenic r.(?) p.? - g.23652476C>T - PALB2(NM_024675.3):c.3G>A (p.Met1?) - PALB2_010371 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/? 1 1 c.11C>T VUS r.(?) p.(Pro4Leu) - g.23652468G>A g.23641147G>A - - PALB2_010175 - PubMed: Wong-Brown 2013 ClinVar-126593 rs45619737 Unknown - - - - - Marc Tischkowitz
?/?, ./. 3 1 c.13C>T VUS r.(?) p.(Pro5Ser) - g.23652466G>A g.23641145G>A - - PALB2_010176 - PubMed: Catucci 2014, Thibodeau lab (Mayo Clinic), PubMed: Casadei 2011 ClinVar-126600 rs377085677 Germline, Unknown - - - - - Marc Tischkowitz, Melissa DeRycke
-?/. 1 - c.15C>G likely benign r.(?) p.(=) - g.23652464G>C - PALB2(NM_024675.3):c.15C>G (p.=) - DCTN5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 1 - c.21G>T - r.(?) p.(Lys7Asn) - g.23652458C>A g.23641137C>A - - PALB2_010346 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
?/-?, -?/-?, ./. 3 1 c.23C>T VUS, likely benign r.(?) p.(Pro8Leu) - g.23652456G>A g.23641135G>A - - PALB2_010012 - PubMed: Ding 2011, PubMed: Tung 2014, Thibodeau lab (Mayo Clinic) ClinVar-126652 rs150390726 Germline, Unknown - - BseRI+ - - Marc Tischkowitz, Melissa DeRycke
?/. 3 1 c.25C>T VUS r.(?) p.(Leu9Phe) - g.23652454G>A - - - PALB2_010556 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 5/7051 cases breast cancer, 12/11241 controls, 7/12490 controls - - - Yukihide Momozawa
-/-? 1 1 c.26T>A benign r.(?) p.(Leu9His) - g.23652453A>T g.23641132A>T - - PALB2_010013 - PubMed: Prokofyeva 2012 ClinVar-126674 rs515726092 Germline - - MslI+;DdeI- - - Marc Tischkowitz
?/. 1 - c.37G>A ACMG: 3 r.(?) p.Glu13Lys - g.23652442C>T - - - PALB2_010575 1 more item - - rs373287455 Germline - - - - - Andreas Laner
+/+ 2 1 c.48G>A pathogenic r.32_48del p.(=) - g.23652431C>T g.23641110C>T - - PALB2_010219 1 families PubMed: Catucci 2014, PubMed: Antoniou 2014 - rs587776405 Germline - - - - - Marc Tischkowitz
?/+? 2 1i c.48+1G>C VUS r.spl? p.? - g.23652430C>G g.23641109C>G - - PALB2_010001 - PubMed: Hellebrand 2011 ClinVar-126750 rs515726118 Germline - - TseI+;BanI- - - Alfons Meindl, Marc Tischkowitz
-/-? 1 1i c.48+27G>T benign r.(=) p.(=) - g.23652404C>A g.23641083C>A - - PALB2_010014 - PubMed: Tischkowitz 2012 ClinVar-126751 rs515726119 Germline - - DdeI+;HgaI- - - Marc Tischkowitz
-/-? 1 1i c.49-173G>T benign r.(=) p.(=) - g.23649623C>A g.23638302C>A IVS1-173G>T - PALB2_010015 - PubMed: Sauty de Chalon 2010 ClinVar-126752 rs515726120 Germline - - HpyCH4V- - - Marc Tischkowitz
?/-? 1 1i c.49-54C>T VUS r.(=) p.(=) - g.23649504G>A g.23638183G>A - - PALB2_010209 - PubMed: Wong-Brown 2013 ClinVar-126753 rs515726121 Unknown - - - - - Marc Tischkowitz
+?/+? 1 1i c.49-2A>T likely pathogenic r.spl? p.? - g.23649452T>A g.23638131T>A - - PALB2_010325 - PubMed: Couch 2015 - rs786203245 Unknown - - - - - Marc Tischkowitz
+/. 1 - c.49-1del pathogenic r.spl p.? - g.23649451del - - - PALB2_010557 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - Yukihide Momozawa
+/+ 3 1i_6i c.(48+1_49-1)_(2586+1_2587-1)del pathogenic r.spl? p.? FA g.(23637719_23640524)_(23649451_23652430)del - g.23649450_23640525del, c.49-?_2586+?del - PALB2_000001 inherited from paternal allele (MLPA of EUFA1341 and father suggest deletion 1 copy exons 2-6) PubMed: Xia 2007, PubMed: Xia 2007; contributed by Fanconi Anemia database - - Unknown, Germline ? - AccI- - - Arleen D. Auerbach, Marc Tischkowitz, LOVD-team, but with Curator vacancy
-/., -?/-?, ./. 7 2 c.53A>G benign, likely benign r.(?) p.(Lys18Arg) - g.23649446T>C g.23638125T>C PALB2(NM_024675.3):c.53A>G (p.K18R) - PALB2_010016 VKGL data sharing initiative Nederland PubMed: Tischkowitz2008, PubMed: Ding2011, PubMed: Zheng 2012, PubMed: Bogdanova 2011, 1 more item ClinVar-126758 rs138789658 CLASSIFICATION record, Germline - - - - - VKGL-NL_VUmc, VKGL-NL_Nijmegen, Marc Tischkowitz, Melissa DeRycke
?/. 1 - c.62T>C ACMG: 3 r.(?) p.Leu21Ser - g.23649437A>G - - - PALB2_010574 1 more item - - - Germline - - - - - Andreas Laner
?/. 1 1 c.65C>T VUS r.(?) p.(Ala22Val) - g.23649434G>A - - - PALB2_010555 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
+/+ 3 2 c.72del pathogenic r.(?) p.(Arg26Glyfs*7) - g.23649427del g.23638106del 73delG, 72delG - PALB2_010017 2 families PubMed: Catucci 2014, PubMed: Antoniou 2014, PubMed: Peterlongo 2011 ClinVar-126766 rs180177142 Germline - - Hpy188III- - - Marc Tischkowitz
?/. 1 1 c.73A>C VUS r.(?) p.(Lys25Gln) - g.23649426T>G - - - PALB2_010554 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
+/+ 1 2 c.73A>T pathogenic r.(?) p.(Lys25*) - g.23649426T>A g.23638105T>A - - PALB2_010245 - PubMed: Janatova 2013 - - Germline - - - - - Marc Tischkowitz
+/. 1 - c.78_79del pathogenic r.(?) p.(Glu27Ilefs*15) - g.23649421_23649422del - PALB2(NM_024675.3):c.78_79delGG (p.E27Ifs*15) - PALB2_010366 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/? 1 2 c.83A>G VUS r.(?) p.(Tyr28Cys) - g.23649416T>C g.23638095T>C - - PALB2_010018 - PubMed: Ding 2011 ClinVar-126774 rs515726129 Germline - - TseI+ - - Marc Tischkowitz
?/. 1 - c.85A>G VUS r.(?) p.(Ser29Gly) - g.23649414T>C - PALB2(NM_024675.3):c.85A>G (p.(Ser29Gly)) - DCTN5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 3 1 c.86G>C VUS r.(?) p.(Ser29Thr) - g.23649413C>G - - - PALB2_010553 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer, 2/11241 controls, 1/12490 controls - - - Yukihide Momozawa
?/? 1 2 c.90G>T VUS r.(?) p.(Lys30Asn) - g.23649409C>A g.23638088C>A - - PALB2_010177 - PubMed: Teo 2013 ClinVar-126779 rs515726130 Unknown - - - - - Marc Tischkowitz
+?/+? 1 2 c.93dup likely pathogenic r.(?) p.(Leu32Thrfs*11) - g.23649406dup g.23638085dup c.93dupA - PALB2_010324 - PubMed: Couch 2015 - rs864622498 Unknown - - - - - Marc Tischkowitz
?/?, ./. 3 2 c.94C>G VUS r.(?) p.(Leu32Val) - g.23649405G>C g.23638084G>C - - PALB2_010178 - PubMed: Teo 2013, Thibodeau lab (Mayo Clinic), PubMed: Tung 2014 ClinVar-126781 rs151316635 Unknown, Germline - - - - - Marc Tischkowitz, Melissa DeRycke
?/. 1 1 c.100C>T VUS r.(?) p.(Arg34Cys) - g.23649399G>A - - - PALB2_010551 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs373483056 Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
?/. 1 - c.101G>T VUS r.(?) p.(Arg34Leu) - g.23649398C>A - - - PALB2_010552 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs144944814 Germline - 1/12490 controls - - - Yukihide Momozawa
-/-? 1 2i c.108+59C>G benign r.(=) p.(=) - g.23649332G>C g.23638011G>C c.109-59C>G - PALB2_010019 - PubMed: Tischkowitz 2012 ClinVar-126588 - Germline - - HincII+ - - Marc Tischkowitz
+?/. 1 - c.109-12T>A ACMG: 4 r.(?) p.? - g.23649285A>T - - - PALB2_010573 1 more item - - rs774949203 Germline - - - - - Andreas Laner
-?/-? 1 2i c.109-5T>C likely benign r.spl? p.(?) - g.23649278A>G g.23637957A>G - - PALB2_010275 - PubMed: Tung 2014 - - Unknown - - - - - Marc Tischkowitz
?/. 1 - c.109C>A VUS r.(?) p.(Arg37Ser) - g.23649273G>T - PALB2(NM_024675.3):c.109C>A (p.(Arg37Ser)) - DCTN5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 1 c.109C>T VUS r.(?) p.(Arg37Cys) - g.23649273G>A - - - PALB2_010550 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs200048921 Germline - 1/11241 controls - - - Yukihide Momozawa
?/., ?/?, ./. 4 3 c.110G>A VUS r.(?) p.(Arg37His) - g.23649272C>T g.23637951C>T PALB2(NM_024675.3):c.110G>A (p.Arg37His) - PALB2_010020 VKGL data sharing initiative Nederland PubMed: Blanco 2013, PubMed: Tischkowitz 2012, Thibodeau lab (Mayo Clinic) ClinVar-126590 rs202194596 CLASSIFICATION record, Germline - - FatI+;BaeGI- - - VKGL-NL, Marc Tischkowitz, Melissa DeRycke
?/. 1 1 c.119G>C VUS r.(?) p.(Arg40Thr) - g.23649263C>G - - - PALB2_010549 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
+?/? 1 3 c.123del likely pathogenic r.(?) p.(Glu42Lysfs*11) - g.23649259del g.23637938del c.123delT - PALB2_010323 - PubMed: Couch 2015 - - Unknown - - AluI-, CviKI_1- - - Marc Tischkowitz
-?/? 1 3 c.127A>G likely benign r.(?) p.(Lys43Glu) - g.23649255T>C g.23637934T>C - - PALB2_010277 - PubMed: Tung 2014 - rs765125459 Unknown - - AcuI+, EarI+, MboII+ - - Marc Tischkowitz
?/. 1 1 c.132T>A VUS r.(?) p.(=) - g.23649250A>T - - - PALB2_010547 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - - - Yukihide Momozawa
-?/? 1 3 c.155T>C likely benign r.(?) p.(Val52Ala) - g.23649227A>G g.23637906A>G - - PALB2_010256 - PubMed: Kanchi 2014 - rs373970237 Unknown - - HpyCH4III- - - Marc Tischkowitz
+/+, +?/+ 2 3 c.156del pathogenic, likely pathogenic r.(?) p.(Glu53Lysfs*15) - g.23649226del g.23637905del c.156delA - PALB2_010296 1 families PubMed: Antoniou 2014, PubMed: Couch 2015 - rs587776406 Germline, Unknown - - BtsIMutI+, TspRI+ - - Marc Tischkowitz
+/+, +?/+, +/. 12 3 c.172_175del pathogenic, likely pathogenic r.(?) p.(Gln60Argfs*7) - g.23649207_23649210del, g.23649211_23649214del g.23637886_23637889del c.172_175delTTGT, 172_175delTTGT, PALB2(NM_024675.3):c.172_175delTTGT (p.Q60Rfs*7) - PALB2_010002 4 families, VKGL data sharing initiative Nederland PubMed: CastŽra 2014, PubMed: Cybulski 2014, PubMed: Hellebrand 2011, PubMed: Antoniou 2014, 6 more items ClinVar-126623 rs180177143 Germline, CLASSIFICATION record - - - - - Marc Tischkowitz, Alfons Meindl, VKGL-NL
?/?, -?/. 4 3 c.194C>T VUS, likely benign r.(?) p.(Pro65Leu) - g.23649188G>A g.23637867G>A PALB2(NM_024675.3):c.194C>T (p.P65L) - PALB2_010322 VKGL data sharing initiative Nederland PubMed: Zhen 2015 - rs62625272 Unknown, CLASSIFICATION record - - BtsI+, HpyCH4V+, PstI+, SfcI+, TspRI+, AciI-, FspEI-, HphI- - - Marc Tischkowitz, VKGL-NL_Leiden, VKGL-NL_Nijmegen, VKGL-NL_Utrecht
+/+ 5 3 c.196C>T pathogenic r.(?) p.(Gln66*) - g.23649186G>A g.23637865G>A - - PALB2_010022 2 families PubMed: Antoniou 2014, PubMed: Nguyen-Dumont 2013, PubMed: Teo2013, PubMed: Wong 2011, 1 more item ClinVar-126629 rs180177083 Germline, Unknown - - HpyCH4III+ - - Marc Tischkowitz
?/. 1 - c.207C>T VUS r.(?) p.(=) - g.23649175G>A - - - PALB2_010548 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - Yukihide Momozawa
?/-? 1 3i c.212-180T>G VUS r.(=) p.(=) - g.23647835A>C g.23636514A>C - - PALB2_010210 - PubMed: Blanco 2013 ClinVar-126631 rs515726076 Unknown - - - - - Marc Tischkowitz
-/-? 1 3i c.212-70T>C benign r.(=) p.(=) - g.23647725A>G g.23636404A>G 212-70A>C - PALB2_010024 - PubMed: Tischkowitz 2012 ClinVar-126636 rs515726080 Germline - - CviKI_1+;MseI- - - Marc Tischkowitz
-/-, -/. 14 3i c.212-58A>C benign r.(=) p.(=) - g.23647713T>G g.23636392T>G PALB2(NM_024675.3):c.212-58A>C - PALB2_010023 VKGL data sharing initiative Nederland PubMed: Catucci 2014, PubMed: Garcia 2009, PubMed: Blanco 2012, PubMed: Balia2010, PubMed: Blanco2013, 8 more items ClinVar-126635 rs80291632 Germline, CLASSIFICATION record - - PleI+ - - Marc Tischkowitz, VKGL-NL
-/- 1 3i c.212-33A>C benign r.(=) p.(=) - g.23647688T>G g.23636367T>G - - PALB2_010025 - PubMed: Tischkowitz 2012 ClinVar-126634 rs515726079 Germline - - - - - Marc Tischkowitz
-/-? 1 3i c.212-25T>A benign r.(=) p.(=) - g.23647680A>T g.23636359A>T - - PALB2_010026 - PubMed: Tischkowitz 2012 ClinVar-126632 rs515726077 Germline - - - - - Marc Tischkowitz
-/-? 1 3i c.212-25_212-24insAT benign r.(=) p.(=) - g.23647679_23647680insAT g.23636358_23636359insAT 212-25insTA - PALB2_010027 - PubMed: Tischkowitz 2012 ClinVar-126633 rs515726078 Germline - - - - - Marc Tischkowitz
?/. 1 1 c.213A>C VUS r.(?) p.(Glu71Asp) - g.23647654T>G - - - PALB2_010546 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
+?/. 2 - c.223A>T ACMG: 4, likely pathogenic r.(?) p.Lys75*, p.(Lys75*) - g.23647644T>A - - - PALB2_010373 1 more item - - - Germline ? - - - - Andreas Laner
./. 1 - c.226A>G - r.(?) p.(Ile76Val) - g.23647641T>C g.23636320T>C - - PALB2_010345 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.227T>C - r.(?) p.(Ile76Thr) - g.23647640A>G g.23636319A>G - - PALB2_010344 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
+/+ 4 4 c.229del pathogenic r.(?) p.(Cys77Valfs*100) - g.23647638del g.23636317del c.229delT - PALB2_010029 1 families PubMed: Antoniou 2014, PubMed: Wark2013, PubMed: Jones 2009, PubMed: Tischkowitz 2007 ClinVar-126644 rs180177084 Germline - - - - - Marc Tischkowitz
?/. 2 1 c.229T>C VUS r.(?) p.(Cys77Arg) - g.23647638A>G - - - PALB2_010544 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs760045493 Germline - 1/11241 controls, 3/12489 controls - - - Yukihide Momozawa
-?/., -?/?, ./., ?/? 6 4 c.232G>A likely benign, VUS r.(?) p.(Val78Ile) - g.23647635C>T g.23636314C>T PALB2(NM_024675.3):c.232G>A (p.(Val78Ile)) - PALB2_010030 VKGL data sharing initiative Nederland PubMed: Blanco 2013, PubMed: Tischkowitz 2012, Thibodeau lab (Mayo Clinic), PubMed: Aoude 2014 ClinVar-126647 rs515726085 CLASSIFICATION record, Germline - 1/201 - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen, Marc Tischkowitz, Melissa DeRycke
?/? 1 4 c.243G>A VUS r.(=) p.(=) - g.23647624C>T g.23636303C>T - - PALB2_010220 - PubMed: Catucci 2014 - - Germline - - - - - Marc Tischkowitz
./. 1 - c.247C>A - r.(?) p.(His83Asn) - g.23647620G>T g.23636299G>T - - PALB2_010349 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
?/. 1 - c.251T>A VUS r.(?) p.(Ile84Asn) - g.23647616A>T - - - PALB2_010545 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12488 controls - - - Yukihide Momozawa
?/. 2 2 c.254A>G VUS r.(?) p.(Lys85Arg) - g.23647613T>C - - - PALB2_010543 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls, 1/12488 controls - - - Yukihide Momozawa
?/. 1 2 c.285G>A VUS r.(?) p.(=) - g.23647582C>T - - - PALB2_010542 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
?/?, ?/. 2 4 c.292A>G VUS r.(?) p.(Ile98Val) - g.23647575T>C g.23636254T>C - - PALB2_010221 - PubMed: Catucci 2014, PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs587782831 Germline - 1/12488 controls - - - Marc Tischkowitz, Yukihide Momozawa
-?/?, ?/?, ./. 5 4 c.298C>T likely benign, VUS r.(?) p.(Leu100Phe) - g.23647569G>A g.23636248G>A c.C298T - PALB2_010031 - PubMed: Kanchi 2014, PubMed: Grant 2015, PubMed: Tung 2014, Thibodeau lab (Mayo Clinic), 1 more item ClinVar-126698 rs61756147 Unknown, Germline - - - - - Marc Tischkowitz, Melissa DeRycke
?/. 1 - c.305T>C ACMG: 3 r.(?) p.Val102Ala - g.23647562A>G - - - PALB2_010572 1 more item - - - Germline - - - - - Andreas Laner
-/., -?/?, ?/., ./. 5 3, 4 c.315G>C benign, likely benign, VUS r.(?) p.(Glu105Asp) - g.23647552C>G g.23636231C>G - - PALB2_010032 - PubMed: Momozawa 2018, Journal: Momozawa 2018, PubMed: Tischkowitz 2012, Thibodeau lab (Mayo Clinic) ClinVar-126718 rs515726108 Germline - 7/7051 cases breast cancer, 5/11241 controls, 1/12488 controls DdeI- - - Yukihide Momozawa, Marc Tischkowitz, Melissa DeRycke
?/. 1 - c.324C>T VUS r.(?) p.(=) - g.23647543G>A - - - PALB2_010541 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12489 controls - - - Yukihide Momozawa
-?/. 1 - c.332A>G likely benign r.(?) p.(Asp111Gly) - g.23647535T>C - PALB2(NM_024675.3):c.332A>G (p.Asp111Gly) - PALB2_010606 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/-? 2 4 c.344G>T likely benign r.(?) p.(Gly115Val) - g.23647523C>A g.23636202C>A - - PALB2_010185 - PubMed: Wong-Brown 2013, PubMed: Foulkes 2007 ClinVar-126743 rs145598272 Unknown - - MnlI- - - Marc Tischkowitz
?/. 1 - c.345A>G VUS r.(?) p.(=) - g.23647522T>C - - - PALB2_010540 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - Yukihide Momozawa
?/. 1 3 c.353T>C VUS r.(?) p.(Ile118Thr) - g.23647514A>G - - - PALB2_010538 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs370404126 Germline - 1/11241 controls - - - Yukihide Momozawa
?/. 1 - c.363A>G VUS r.(?) p.(=) - g.23647504T>C - - - PALB2_010539 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - Yukihide Momozawa
-?/., ./. 2 - c.364G>A likely benign r.(?) p.(Asp122Asn) - g.23647503C>T g.23636182C>T PALB2(NM_024675.3):c.364G>A (p.(Asp122Asn)) - PALB2_010348 VKGL data sharing initiative Nederland Thibodeau lab (Mayo Clinic) - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Melissa DeRycke
?/. 1 3 c.367G>A VUS r.(?) p.(Asp123Asn) - g.23647500C>T - - - PALB2_010537 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
?/. 1 3 c.369C>T VUS r.(?) p.(=) - g.23647498G>A - - - PALB2_010536 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - - - Yukihide Momozawa
-/., ?/. 3 3 c.371C>A benign, VUS r.(?) p.(Thr124Asn) - g.23647496G>T - - - PALB2_010535 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer, 2/11241 controls, 2/12490 controls - - - Yukihide Momozawa
?/. 1 3 c.380A>G VUS r.(?) p.(His127Arg) - g.23647487T>C - - - PALB2_010534 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs863224789 Germline - 1/11241 controls - - - Yukihide Momozawa
?/. 1 3 c.388C>T VUS r.(?) p.(His130Tyr) - g.23647479G>A - - - PALB2_010533 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - - - Yukihide Momozawa
?/. 1 3 c.389A>T VUS r.(?) p.(His130Leu) - g.23647478T>A - - - PALB2_010530 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 2/11241 controls - - - Yukihide Momozawa
+/+ 4 4 c.395del pathogenic r.(?) p.(Val132Alafs*45) FA g.23647472del g.23636151del c.395delT, 395delT - PALB2_000003 - PubMed: Reid 2007, PubMed: Jones 2009, PubMed: Reid 2007; contributed by Fanconi Anemia database ClinVar-126748 rs180177085 Unknown, Germline ? - BtsI+ - - Arleen D. Auerbach, Marc Tischkowitz, LOVD-team, but with Curator vacancy
-?/., -?/-? 3 4 c.400G>A likely benign r.(?) p.(Asp134Asn) - g.23647467C>T g.23636146C>T PALB2(NM_024675.3):c.400G>A (p.(Asp134Asn)), 400A>G - PALB2_010033 VKGL data sharing initiative Nederland PubMed: Tung 2014, PubMed: Zheng 2011 ClinVar-126749 rs139555085 CLASSIFICATION record, Germline - - TspRI- - - VKGL-NL, Marc Tischkowitz
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