Full data view for gene FANCC

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_000136.2 transcript reference sequence.

792 entries on 8 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     
?/. 1 c.-262-4937_-79+3379del r.(?) p.? FA Maternal (confirmed) - VUS g.98076429_98084928del g.95314147_95322646del - - FANCC_000062 breakpoints cloned PubMed: Chandrasekharappa 2013 - - Unknown ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/+ _1_1i c.(?_-262)_-79+3686del r.(?) p.? FA Unknown - pathogenic (recessive) g.98076122_98079991del - g.97115943_97125170del9228 - FANCC_000070 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Flynn EK 2014 - - Unknown - - - 0 - DNA arrayCGH, PCR - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.(?_-262)_(250+1_251-1)del r.0? p.0? FA Parent #2 - pathogenic (recessive) g.(98003026_98009713)_(98079991_?)del - - - FANCC_000002 detected in RNA - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.(?_-262)_(250+1_251-1)del r.0? p.0? FA Parent #2 - pathogenic (recessive) g.(98003026_98009713)_(98079991_?)del - - - FANCC_000002 detected in RNA - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.(?_-262)_(250+1_251-1)del r.0? p.0? FA Parent #2 - pathogenic (recessive) g.(98003026_98009713)_(98079991_?)del - - - FANCC_000002 detected in RNA - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. - c.-78-2A>G r.spl? p.? - Parent #1 - NA g.98011653T>C - chr9_98011653_T_C - FANCC_000377 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.-78-2A>G r.spl? p.? - Parent #1 - NA g.98011653T>C - chr9_98011653_T_C - FANCC_000377 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.-78-1G>C r.spl? p.? - Parent #1 - NA g.98011652C>G - chr9_98011652_C_G - FANCC_000376 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.-78-1G>C r.spl? p.? - Parent #1 - NA g.98011652C>G - chr9_98011652_C_G - FANCC_000376 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.-78-1G>T r.spl? p.? - Parent #1 - NA g.98011652C>A - chr9_98011652_C_A - FANCC_000375 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
?/. 1 c.-64C>T r.(?) p.? FA Unknown - VUS g.98011637G>A g.95249355G>A - - FANCC_000050 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Couch 2005 - - Germline ? - - 0 - DNA SEQ - - ? - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. 2 c.8_9del r.(?) p.(Q3Rfs*7) FA Paternal (inferred) - VUS g.98011565_98011566del g.95249283_95249284del - - FANCC_000063 - PubMed: Chandrasekharappa 2013 - - Unknown ? - - 0 - DNA SEQ - - FANCC - PubMed: Chandrasekharappa 2013 - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. 2 c.8_9del r.(?) p.(Q3Rfs*7) FA Maternal (inferred) - VUS g.98011565_98011566del g.95249283_95249284del - - FANCC_000063 - PubMed: Chandrasekharappa 2013 - - Unknown ? - - 0 - DNA SEQ - - FANCC - PubMed: Chandrasekharappa 2013 - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
?/. - c.9A>T r.(?) p.(Gln3His) - Parent #1 - NA g.98011565T>A - chr9_98011565_T_A - FANCC_000374 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.9A>T r.(?) p.(Gln3His) - Parent #1 - NA g.98011565T>A - chr9_98011565_T_A - FANCC_000374 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.14C>G r.(?) p.(Ser5*) - Parent #1 - NA g.98011560G>C - chr9_98011560_G_C - FANCC_000373 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.16G>C r.(?) p.(Val6Leu) - Parent #1 - NA g.98011558C>G - chr9_98011558_C_G - FANCC_000372 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.20A>C r.(?) p.(Asp7Ala) - Parent #1 - NA g.98011554T>G - chr9_98011554_T_G - FANCC_000371 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.28del r.(?) p.(Cys10Valfs*36) - Parent #1 - NA g.98011547del - chr9_98011545_CA_C - FANCC_000370 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.28T>G r.(?) p.(Cys10Gly) - Parent #1 - NA g.98011546A>C - chr9_98011546_A_C - FANCC_000369 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 - 9/60466 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 - 9 BRIDGES consortium
?/. - c.28T>G r.(?) p.(Cys10Gly) - Parent #1 - NA g.98011546A>C - chr9_98011546_A_C - FANCC_000369 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 - 3/53461 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 - 3 BRIDGES consortium
-?/. - c.29G>A r.(?) p.(Cys10Tyr) - Unknown - likely benign g.98011545C>T g.95249263C>T FANCC(NM_000136.2):c.29G>A (p.C10Y) - FANCC_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.29G>A r.(?) p.(Cys10Tyr) - Parent #1 - NA g.98011545C>T - chr9_98011545_C_T - FANCC_000084 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 - 53/60466 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 - 53 BRIDGES consortium
?/. - c.29G>A r.(?) p.(Cys10Tyr) - Parent #1 - NA g.98011545C>T - chr9_98011545_C_T - FANCC_000084 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 - 46/53461 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 - 46 BRIDGES consortium
?/. - c.35A>G r.(?) p.(Tyr12Cys) - Parent #1 - NA g.98011539T>C - chr9_98011539_T_C - FANCC_000368 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.35A>G r.(?) p.(Tyr12Cys) - Parent #1 - NA g.98011539T>C - chr9_98011539_T_C - FANCC_000368 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
+/. 1 c.37C>T r.(?) p.(Q13*) FA Parent #1 - pathogenic (recessive) g.98011537G>A g.95249255G>A - - FANCC_000001 - PubMed: Murer-Orlando 1993 - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.37C>T r.(?) p.(Q13*) FA Parent #1 - pathogenic (recessive) g.98011537G>A g.95249255G>A - - FANCC_000001 - PubMed: Gibson 1996 - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.37C>T r.(?) p.(Q13*) FA Parent #1 - pathogenic (recessive) g.98011537G>A g.95249255G>A - - FANCC_000001 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.37C>T r.(?) p.(Q13*) FA Parent #1 - pathogenic (recessive) g.98011537G>A g.95249255G>A - - FANCC_000001 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.37C>T r.(?) p.(Q13*) FA Parent #1 - pathogenic (recessive) g.98011537G>A g.95249255G>A - - FANCC_000001 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.37C>T r.(?) p.(Q13*) FA Parent #1 - pathogenic (recessive) g.98011537G>A g.95249255G>A - - FANCC_000001 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.37C>T r.(?) p.(Q13*) FA Parent #1 - pathogenic (recessive) g.98011537G>A g.95249255G>A - - FANCC_000001 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.37C>T r.(?) p.(Q13*) FA Parent #2 - pathogenic (recessive) g.98011537G>A g.95249255G>A - - FANCC_000001 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.37C>T r.(?) p.(Q13*) FA Parent #2 - pathogenic (recessive) g.98011537G>A g.95249255G>A - - FANCC_000001 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.37C>T r.(?) p.(Q13*) FA Parent #2 - pathogenic (recessive) g.98011537G>A g.95249255G>A - - FANCC_000001 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.37C>T r.(?) p.(Q13*) FA Parent #2 - pathogenic (recessive) g.98011537G>A g.95249255G>A - - FANCC_000001 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.37C>T r.(?) p.(Q13*) FA Parent #2 - pathogenic (recessive) g.98011537G>A g.95249255G>A - - FANCC_000001 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. - c.37C>T r.(?) p.(Gln13*) - Unknown ACMG pathogenic g.98011537G>A g.95249255G>A - - FANCC_000001 ACMG grading: PVS1,PM2,PP5; BC at age 38y, mother ovarina-cancer at age 58y, no pathogenic variant in 11-gene BC panel; Verlander et al. 1994. Am J Hum Genet 54: 595; Susswein et al. 2016. Genet Med 18: 823 - - rs121917784 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
?/. - c.37C>T r.(?) p.(Gln13*) - Parent #1 - NA g.98011537G>A - chr9_98011537_G_A - FANCC_000001 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.46A>T r.(?) p.(Met16Leu) - Parent #1 - NA g.98011528T>A - chr9_98011528_T_A - FANCC_000367 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.46A>T r.(?) p.(Met16Leu) - Parent #1 - NA g.98011528T>A - chr9_98011528_T_A - FANCC_000367 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.62T>C r.(?) p.(Val21Ala) - Parent #1 - NA g.98011512A>G - chr9_98011512_A_G - FANCC_000366 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.65G>A r.(?) p.(W22*) FA Parent #1 - pathogenic (recessive) g.98011509C>T g.95249227C>T - - FANCC_000040 - PubMed: Ameziane 2007 - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Johan de Winter
+/. 1 c.65G>A r.(?) p.(W22*) FA Parent #1 - pathogenic (recessive) g.98011509C>T g.95249227C>T - - FANCC_000040 - PubMed: Gibson 1996 - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.65G>A r.(?) p.(W22*) FA Parent #1 - pathogenic (recessive) g.98011509C>T g.95249227C>T - - FANCC_000040 - PubMed: Ameziane 2007 - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Johan de Winter
+/. 1 c.65G>A r.(?) p.(Trp22*) FA Parent #1 - pathogenic (recessive) g.98011509C>T g.95249227C>T - - FANCC_000040 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.65G>A r.(?) p.(Trp22*) FA Parent #1 - pathogenic (recessive) g.98011509C>T g.95249227C>T - - FANCC_000040 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.65G>A r.(?) p.(Trp22*) FA Parent #1 - pathogenic (recessive) g.98011509C>T g.95249227C>T - - FANCC_000040 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.65G>A r.(?) p.(W22*) FA Parent #2 - pathogenic (recessive) g.98011509C>T g.95249227C>T - - FANCC_000040 - PubMed: Ameziane 2007 - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Johan de Winter
+/. 1 c.65G>A r.(?) p.(W22*) FA Parent #2 - pathogenic (recessive) g.98011509C>T g.95249227C>T - - FANCC_000040 - PubMed: Gibson 1996 - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.65G>A r.(?) p.(W22*) FA Parent #2 - pathogenic (recessive) g.98011509C>T g.95249227C>T - - FANCC_000040 - PubMed: Ameziane 2007 - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Johan de Winter
+/. 1 c.65G>A r.(?) p.(Trp22*) FA Parent #2 - pathogenic (recessive) g.98011509C>T g.95249227C>T - - FANCC_000040 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.65G>A r.(?) p.(Trp22*) FA Parent #2 - pathogenic (recessive) g.98011509C>T g.95249227C>T - - FANCC_000040 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.65G>A r.(?) p.(Trp22*) FA Both (homozygous) - pathogenic (recessive) g.98011509C>T g.95249227C>T - - FANCC_000040 - Pilonetto DV - HC/UFPR (07/08/2016) - rs377294947 Germline - - - 0 - DNA PAGE, PCRdig - - FANCC - - - F - - - - 0 - - 1 Daniela Pilonetto
+/. 1 c.65G>A r.(?) p.(Trp22*) FA Both (homozygous) - pathogenic (recessive) g.98011509C>T g.95249227C>T - - FANCC_000040 - Pilonetto DV - HC/UFPR (07/08/2016) - rs377294947 Germline - - - 0 - DNA PAGE, PCRdig - - FANCC - - - F - - - - 0 - - 1 Daniela Pilonetto
+/. 1 c.65G>A r.(?) p.(Trp22*) FA Both (homozygous) - pathogenic (recessive) g.98011509C>T g.95249227C>T - - FANCC_000040 - Pilonetto DV - HC/UFPR (07/08/2016) - rs377294947 Germline - - - 0 - DNA PAGE, PCRdig - - FANCC - - - M - - - - 0 - - 1 Daniela Pilonetto
?/. - c.67del r.(?) p.(Asp23Ilefs*23) - Parent #1 - NA g.98011509del - chr9_98011506_TC_T - FANCC_000006 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 - 33/60466 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 - 33 BRIDGES consortium
?/. - c.67del r.(?) p.(Asp23Ilefs*23) - Parent #1 - NA g.98011509del - chr9_98011506_TC_T - FANCC_000006 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 - 31/53461 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 - 31 BRIDGES consortium
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(D23Ifs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - PubMed: Strathdee 1992 - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(D23Ifs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - PubMed: Strathdee 1992 - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(D23Ifs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - PubMed: Ameziane 2007 - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Johan de Winter
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(D23Ifs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - PubMed: Ameziane 2007 - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Johan de Winter
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - - - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? Netherlands - - 0 - - 1 Johan de Winter
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? Netherlands - - 0 - - 1 Johan de Winter
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? Netherlands - - 0 - - 1 Johan de Winter
+/. 1 c.67del r.(?) p.(Asp23Ilefs*23) FA Parent #1 - pathogenic (recessive) g.98011509del g.95249227del - - FANCC_000006 - PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - 0 - DNA SEQ - - FANCC - - - ? ? Canada - - 0 - - 1 Johan de Winter
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