Full data view for gene BRIP1

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_032043.2 transcript reference sequence.

1150 entries on 12 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.-205G>A r.(?) p.(=) - Unknown - benign g.59940819C>T g.61863458C>T BRIP1(NM_032043.2):c.-205G>A - BRIP1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-31+1G>A r.spl? p.? - Parent #1 - NA g.59940644C>T - chr17_59940644_C_T - BRIP1_000763 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.-31+12G>A r.(=) p.(=) - Unknown - benign g.59940633C>T g.61863272C>T BRIP1(NM_032043.2):c.-31+12G>A - BRIP1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-30-3T>C r.spl? p.? - Unknown - likely benign g.59938933A>G g.61861572A>G BRIP1(NM_032043.2):c.-30-3T>C - BRIP1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-30-3T>C r.spl? p.? - Unknown - likely benign g.59938933A>G g.61861572A>G BRIP1(NM_032043.2):c.-30-3T>C - BRIP1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-26G>C r.(?) p.(=) - Unknown - likely benign g.59938926C>G - - - BRIP1_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1A>G r.? p.? - Parent #1 - NA g.59938900T>C - chr17_59938900_T_C - BRIP1_000762 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.1A>G r.? p.? - Parent #1 - NA g.59938900T>C - chr17_59938900_T_C - BRIP1_000762 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.10A>G r.(?) p.(Met4Val) - Parent #1 - NA g.59938891T>C - chr17_59938891_T_C - BRIP1_000761 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.10A>G r.(?) p.(Met4Val) - Parent #1 - NA g.59938891T>C - chr17_59938891_T_C - BRIP1_000761 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.15G>A r.(?) p.(Trp5*) - Parent #1 - NA g.59938886C>T - chr17_59938886_C_T - BRIP1_000760 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.19G>C r.(?) p.(Glu7Gln) - Parent #1 - NA g.59938882C>G - chr17_59938882_C_G - BRIP1_000759 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.24T>G r.(?) p.(Tyr8*) - Parent #1 - pathogenic g.59938877A>C g.61861516A>C - - BRIP1_000179 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 1/12365 controls - 0 - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12365 controls - - Japan - - 0 - - 1 Yukihide Momozawa
?/. - c.36G>T r.(?) p.(Gly12=) - Unknown - VUS g.59938865C>A g.61861504C>A BRIP1(NM_032043.2):c.36G>T (p.G12=) - BRIP1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.36G>T r.(?) p.(Gly12=) - Unknown - likely benign g.59938865C>A g.61861504C>A BRIP1(NM_032043.2):c.36G>T (p.G12=) - BRIP1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.36G>T r.(?) p.(Gly12=) - Unknown - likely benign g.59938865C>A g.61861504C>A BRIP1(NM_032043.2):c.36G>T (p.G12=) - BRIP1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.50T>G r.(?) p.(Phe17Cys) - Parent #1 - NA g.59938851A>C - chr17_59938851_A_C - BRIP1_000758 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.56A>G r.(?) p.(Tyr19Cys) - Parent #1 - NA g.59938845T>C - chr17_59938845_T_C - BRIP1_000757 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 - 2/60466 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 - 2 BRIDGES consortium
?/. - c.57T>A r.(?) p.(Tyr19*) - Parent #1 - NA g.59938844A>T - chr17_59938844_A_T - BRIP1_000756 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.57T>C r.(=) p.(=) - Parent #1 - benign g.59938844A>G g.61861483A>G - - BRIP1_000178 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 5/12365 controls - 0 - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12365 controls - - Japan - - 0 - - 5 Yukihide Momozawa
?/. - c.62C>T r.(?) p.(Ala21Val) - Parent #1 - NA g.59938839G>A - chr17_59938839_G_A - BRIP1_000755 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.64T>C r.(?) p.(Tyr22His) - Parent #1 - NA g.59938837A>G - chr17_59938837_A_G - BRIP1_000754 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.66C>G r.(?) p.(Tyr22*) - Parent #1 - NA g.59938835G>C - chr17_59938835_G_C - BRIP1_000753 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.71dup r.(?) p.(Gln25Thrfs*44) - Parent #1 - NA g.59938830dup - chr17_59938829_T_TG - BRIP1_000752 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.76C>G r.(?) p.(Leu26Val) - Parent #1 - NA g.59938825G>C - chr17_59938825_G_C - BRIP1_000751 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.78dup r.(?) p.(Ala27Cysfs*42) - Parent #1 - NA g.59938824dup - chr17_59938822_C_CA - BRIP1_000750 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.82A>C r.(?) p.(Met28Leu) - Parent #1 - NA g.59938819T>G - chr17_59938819_T_G - BRIP1_000749 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.87G>T r.(?) p.(Met29Ile) - Parent #1 - VUS g.59938814C>A g.61861453C>A - - BRIP1_000177 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 11/12364 controls - 0 - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12364 controls - - Japan - - 0 - - 11 Yukihide Momozawa
-/. - c.93+72T>G r.(=) p.(=) - Unknown - benign g.59938736A>C g.61861375A>C BRIP1(NM_032043.2):c.93+72T>G - BRIP1_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.94-18T>G r.(=) p.(=) - Unknown - benign g.59937286A>C g.61859925A>C BRIP1(NM_032043.2):c.94-18T>G - BRIP1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.94-18T>G r.(=) p.(=) - Unknown - benign g.59937286A>C g.61859925A>C BRIP1(NM_032043.2):c.94-18T>G - BRIP1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.94-18T>G r.(=) p.(=) - Unknown - benign g.59937286A>C - BRIP1(NM_032043.2):c.94-18T>G - BRIP1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.110A>G r.(?) p.(Asn37Ser) - Parent #1 - NA g.59937252T>C - chr17_59937252_T_C - BRIP1_000748 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 - 2/60466 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 - 2 BRIDGES consortium
?/. - c.110A>G r.(?) p.(Asn37Ser) - Parent #1 - NA g.59937252T>C - chr17_59937252_T_C - BRIP1_000748 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 - 5/53461 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 - 5 BRIDGES consortium
?/. - c.115A>G r.(?) p.(Lys39Glu) - Parent #1 - NA g.59937247T>C - chr17_59937247_T_C - BRIP1_000747 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.128_131del r.(?) p.(Leu43TrpfsTer11) - Unknown - pathogenic g.59937236_59937239del g.61859875_61859878del BRIP1(NM_032043.2):c.128_131delTGTT (p.L43Wfs*11) - BRIP1_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.133G>T r.(?) p.(Glu45*) - Parent #1 - NA g.59937229C>A - chr17_59937229_C_A - BRIP1_000746 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 - 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.139C>A r.(?) p.(Pro47Thr) - Parent #1 - NA g.59937223G>T - chr17_59937223_G_T - BRIP1_000745 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 - 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.139C>G r.(?) p.(Pro47Ala) - Unknown - VUS g.59937223G>C g.61859862G>C BRIP1(NM_032043.2):c.139C>G (p.(Pro47Ala), p.P47A) - BRIP1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.139C>G r.(?) p.(Pro47Ala) - Unknown - VUS g.59937223G>C g.61859862G>C BRIP1(NM_032043.2):c.139C>G (p.(Pro47Ala), p.P47A) - BRIP1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139C>G r.(?) p.(Pro47Ala) - Unknown - VUS g.59937223G>C g.61859862G>C BRIP1(NM_032043.2):c.139C>G (p.(Pro47Ala), p.P47A) - BRIP1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139C>G r.(?) p.(Pro47Ala) - Unknown - VUS g.59937223G>C g.61859862G>C BRIP1(NM_032043.2):c.139C>G (p.(Pro47Ala), p.P47A) - BRIP1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139C>G r.(?) p.(Pro47Ala) - Unknown - VUS g.59937223G>C - BRIP1(NM_032043.2):c.139C>G (p.(Pro47Ala), p.P47A) - BRIP1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139C>G r.(?) p.(Pro47Ala) - Parent #1 - NA g.59937223G>C - chr17_59937223_G_C - BRIP1_000033 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 - 52/60466 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 - 52 BRIDGES consortium
?/. - c.139C>G r.(?) p.(Pro47Ala) - Parent #1 - NA g.59937223G>C - chr17_59937223_G_C - BRIP1_000033 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 - 51/53461 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 - 51 BRIDGES consortium
?/. - c.152G>A r.(?) p.(Gly51Glu) - Parent #1 - NA g.59937210C>T - chr17_59937210_C_T - BRIP1_000744 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.155A>G r.(?) p.(Lys52Arg) - Parent #1 - NA g.59937207T>C - chr17_59937207_T_C - BRIP1_000743 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.169C>T r.(?) p.(Leu57Phe) - Parent #1 - NA g.59937193G>A - chr17_59937193_G_A - BRIP1_000742 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.186A>G r.(?) p.(Ala62=) - Unknown - likely benign g.59937176T>C - - - BRIP1_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.188G>C r.(?) p.(Trp63Ser) - Parent #1 - NA g.59937174C>G - chr17_59937174_C_G - BRIP1_000741 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.189G>T r.(?) p.(Trp63Cys) - Parent #1 - NA g.59937173C>A - chr17_59937173_C_A - BRIP1_000740 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.193C>T r.(?) p.(Gln65*) - Parent #1 - NA g.59937169G>A - chr17_59937169_G_A - BRIP1_000739 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 - 2/60466 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 - 2 BRIDGES consortium
?/. - c.196delinsCTC r.(?) p.(Ser66Leufs*12) - Parent #1 - NA g.59937166delinsGAG - chr17_59937166_A_GAG - BRIP1_000738 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.200T>C r.(?) p.(Leu67Pro) - Parent #1 - NA g.59937162A>G - chr17_59937162_A_G - BRIP1_000737 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.205G>A r.(?) p.(Gly69Arg) - Parent #1 - NA g.59937157C>T - chr17_59937157_C_T - BRIP1_000736 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 - 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
+/. 3i c.205+5G>T r.(spl?) p.(Gly69fs*8) FA Parent #1 - pathogenic g.59937152C>A g.61859791C>A - - BRIP1_000004 - PubMed: Levitus 2005 - - Unknown ? - - 0 - DNA SEQ - - FANCJ - - individual from consanguineous marriage ? yes ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.205+5G>T r.(?) p.(Gly69fs*8) FA Parent #1 - pathogenic g.59937152C>A g.61859791C>A - - BRIP1_000004 - PubMed: Levitus 2005 - - Unknown ? - - 0 - DNA SEQ - - FANCJ - - individual from consanguineous marriage ? yes ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.205+5G>T r.(?) p.(Gly69fs*8) FA Parent #2 - pathogenic g.59937152C>A g.61859791C>A - - BRIP1_000004 - PubMed: Levitus 2005 - - Unknown ? - - 0 - DNA SEQ - - FANCJ - - individual from consanguineous marriage ? yes ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3i c.205+5G>T r.(?) p.(Gly69fs*8) FA Parent #2 - pathogenic g.59937152C>A g.61859791C>A - - BRIP1_000004 - PubMed: Levitus 2005 - - Unknown ? - - 0 - DNA SEQ - - FANCJ - - individual from consanguineous marriage ? yes ? (unknown) - - 0 - - 1 Arleen D. Auerbach
-/. - c.206-21T>C r.(=) p.(=) - Unknown - benign g.59934613A>G - BRIP1(NM_032043.2):c.206-21T>C - BRIP1_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.206-2A>G r.(?) p.(?) - Unknown ACMG likely pathogenic g.59934594T>C g.61857233T>C - - BRIP1_000193 CRC at 42 years, mother breast carcinoma at age 42, half-sister ms breast carcinoma at age 44, half-sister ms BC at age 44 LJ, father CRC at age 70J. - - rs786203700 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
?/. - c.206-1G>T r.spl? p.? - Parent #1 - NA g.59934593C>A - chr17_59934593_C_A - BRIP1_000735 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.206-1G>T r.spl? p.? - Parent #1 - NA g.59934593C>A - chr17_59934593_C_A - BRIP1_000735 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.206G>C r.(?) p.(Gly69Ala) - Unknown - VUS g.59934592C>G - BRIP1(NM_032043.2):c.206G>C (p.G69A) - BRIP1_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.208A>T r.(?) p.(Lys70*) - Parent #1 - NA g.59934590T>A - chr17_59934590_T_A - BRIP1_000734 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.209A>G r.(?) p.(Lys70Arg) - Parent #1 - NA g.59934589T>C - chr17_59934589_T_C - BRIP1_000733 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.215C>T r.(?) p.(Ala72Val) - Parent #1 - NA g.59934583G>A - chr17_59934583_G_A - BRIP1_000732 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.218A>G r.(?) p.(Asp73Gly) - Parent #1 - NA g.59934580T>C - chr17_59934580_T_C - BRIP1_000731 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.225C>T r.(=) p.(=) - Parent #1 - benign g.59934573G>A g.61857212G>A - - BRIP1_000176 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - rs186802750 Germline - 16/12365 controls - 0 - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12365 controls - - Japan - - 0 - - 16 Yukihide Momozawa
?/. - c.235A>G r.(?) p.(Lys79Glu) - Parent #1 - NA g.59934563T>C - chr17_59934563_T_C - BRIP1_000730 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.243A>G r.(?) p.(Glu81=) - Unknown - VUS g.59934555T>C g.61857194T>C - - BRIP1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.254C>T r.(?) p.(Ser85Leu) - Unknown - likely benign g.59934544G>A g.61857183G>A - - BRIP1_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.254C>T r.(?) p.(Ser85Leu) - Parent #1 - NA g.59934544G>A - chr17_59934544_G_A - BRIP1_000209 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.254C>T r.(?) p.(Ser85Leu) - Parent #1 - NA g.59934544G>A - chr17_59934544_G_A - BRIP1_000209 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.257G>A r.(?) p.(Cys86Tyr) - Parent #1 - NA g.59934541C>T - chr17_59934541_C_T - BRIP1_000729 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.259T>A r.(?) p.(Cys87Ser) - Parent #1 - NA g.59934539A>T - chr17_59934539_A_T - BRIP1_000728 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.260G>C r.(?) p.(Cys87Ser) - Parent #1 - NA g.59934538C>G - chr17_59934538_C_G - BRIP1_000727 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.262_264del r.(?) p.(Cys88del) - Parent #1 - VUS g.59934540_59934542del g.61857179_61857181del g.59934534_59934536del - BRIP1_000093 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - rs587781388 Germline - 1/12366 controls - 0 - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - 0 - - 1 Yukihide Momozawa
?/. - c.270C>A r.(?) p.(Cys90*) - Parent #1 - NA g.59934528G>T - chr17_59934528_G_T - BRIP1_000726 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.274T>C r.(?) p.(Ser92Pro) - Parent #1 - NA g.59934524A>G - chr17_59934524_A_G - BRIP1_000725 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.277A>G r.(?) p.(Lys93Glu) - Parent #1 - NA g.59934521T>C - chr17_59934521_T_C - BRIP1_000724 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.290_293del r.(?) p.(Asn97Metfs*3) - Parent #1 - NA g.59934509_59934512del - chr17_59934504_ATTGT_A - BRIP1_000723 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.287C>T r.(?) p.(Thr96Ile) - Parent #1 - VUS g.59934511G>A g.61857150G>A - - BRIP1_000175 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 1/12365 controls - 0 - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12365 controls - - Japan - - 0 - - 1 Yukihide Momozawa
?/. - c.293A>G r.(?) p.(Asn98Ser) - Parent #1 - NA g.59934505T>C - chr17_59934505_T_C - BRIP1_000722 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.293A>G r.(?) p.(Asn98Ser) - Parent #1 - NA g.59934505T>C - chr17_59934505_T_C - BRIP1_000722 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.299T>C r.(?) p.(Met100Thr) - Parent #1 - NA g.59934499A>G - chr17_59934499_A_G - BRIP1_000721 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.299T>C r.(?) p.(Met100Thr) - Parent #1 - NA g.59934499A>G - chr17_59934499_A_G - BRIP1_000721 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.305A>G r.(?) p.(Gln102Arg) - Parent #1 - NA g.59934493T>C - chr17_59934493_T_C - BRIP1_000720 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.305A>G r.(?) p.(Gln102Arg) - Parent #1 - NA g.59934493T>C - chr17_59934493_T_C - BRIP1_000720 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 - 5/53461 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 - 5 BRIDGES consortium
?/. - c.316C>T r.(?) p.(Arg106Cys) - Parent #1 - NA g.59934482G>A - chr17_59934482_G_A - BRIP1_000719 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 - 6/60466 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 - 6 BRIDGES consortium
?/. - c.316C>T r.(?) p.(Arg106Cys) - Parent #1 - NA g.59934482G>A - chr17_59934482_G_A - BRIP1_000719 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 - 12/53461 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 - 12 BRIDGES consortium
?/. - c.317G>A r.(?) p.(Arg106His) - Parent #1 - NA g.59934481C>T - chr17_59934481_C_T - BRIP1_000718 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.317G>A r.(?) p.(Arg106His) - Parent #1 - NA g.59934481C>T - chr17_59934481_C_T - BRIP1_000718 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.321_337del r.(?) p.(Phe108Thrfs*4) - Parent #1 - NA g.59934463_59934479del - chr17_59934460_GTGCTTGGATAGTTGAAA_G - BRIP1_000714 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.321_337del r.(?) p.(Phe108Thrfs*4) - Parent #1 - NA g.59934463_59934479del - chr17_59934460_GTGCTTGGATAGTTGAAA_G - BRIP1_000714 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.320A>C r.(?) p.(His107Pro) - Parent #1 - NA g.59934478T>G - chr17_59934478_T_G - BRIP1_000717 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.326A>G r.(?) p.(Asn109Ser) - Parent #1 - NA g.59934472T>C - chr17_59934472_T_C - BRIP1_000716 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 - 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.331C>G r.(?) p.(Pro111Ala) - Parent #1 - NA g.59934467G>C - chr17_59934467_G_C - BRIP1_000715 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.338C>T r.(?) p.(Thr113Ile) - Parent #1 - NA g.59934460G>A - chr17_59934460_G_A - BRIP1_000713 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 - 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.341C>A r.(?) p.(Pro114Gln) - Parent #1 - NA g.59934457G>T - chr17_59934457_G_T - BRIP1_000712 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
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