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.

47 entries on 1 page. Showing entries 1 - 47.
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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     
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #1 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - Auerbach Lab; Auerbach Lab - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - Hispanic - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #1 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Levran 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - Same individual as EUFA1333 (Levitus et al, 2005) ? ? United States European - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #1 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Levran 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? United States European - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #1 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Levran 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - Irish Traveler - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #1 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Levran 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - Hispanic - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #1 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Levran 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - Inuit - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #1 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Levran 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - Inuit - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #1 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Levran 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? United States Hispanic;African - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #1 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Levran 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - Inuit - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #1 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Levran 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? United States European - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #1 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Levitus 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #1 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Levitus 2005, PubMed: Litman 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - This individual was also published in Litman et al, 2005 ? ? - - - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #1 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 Individual homozygous or hemizygous for variant; heterozygous with respect to polymorphic repeat markers surrounding the gene, homozygous with respect to polymorphic SNPs in BRIP1; no material available from the parents PubMed: Levitus 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #1 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Levitus 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - Same individual as IFAR764/1 (Levran et al, 2005) ? ? - - - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #1 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 also published in Levitus et al, 2005 PubMed: Litman 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - This individual was also published in Levitus et al, 2005 ? ? - - - - - - 1 Arleen D. Auerbach
+/+ 17 c.2392C>T r.(?) p.(Arg798*) FA Paternal (inferred) - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - Auerbach Lab; Auerbach Lab - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/+ 17 c.2392C>T r.(?) p.(Arg798*) FA Paternal (inferred) - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - Auerbach Lab; Auerbach Lab - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/+ 17 c.2392C>T r.(?) p.(Arg798*) FA Paternal (confirmed) - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - Auerbach Lab; Auerbach Lab - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - - - - - - 1 Arleen D. Auerbach
?/. 17 c.2392C>T r.(?) p.(Arg798*) FA Paternal (confirmed) - VUS g.59793412G>A g.61716051G>A - - BRIP1_000007 - Auerbach Lab; Auerbach Lab - - Unknown ? - - - - DNA SEQ - - FANCJ - PubMed: Chandrasekharappa 2013 - ? ? - - - - - - 1 Arleen D. Auerbach
?/. 17 c.2392C>T r.(?) p.(Arg798*) FA Paternal (inferred) - VUS g.59793412G>A g.61716051G>A - - BRIP1_000007 - - - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - - - - - - 1 Arleen D. Auerbach
?/. 17 c.2392C>T r.(?) p.(Arg798*) FA Paternal (inferred) - VUS g.59793412G>A g.61716051G>A - - BRIP1_000007 - - - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - - - - - - 1 Arleen D. Auerbach
?/. 17 c.2392C>T r.(?) p.(Arg798*) FA Paternal (inferred) - VUS g.59793412G>A g.61716051G>A - - BRIP1_000007 - - - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #2 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Levran 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - Hispanic - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #2 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Levran 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? United States European - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #2 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Levran 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? United States European - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #2 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Levran 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - Irish Traveler - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #2 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Levran 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - Hispanic - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #2 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Levran 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - Inuit - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #2 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Levran 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - Inuit - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #2 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Levran 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - Inuit - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #2 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Levran 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? United States European - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #2 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Levitus 2005, PubMed: Litman 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - This individual was also published in Litman et al, 2005 ? ? - - - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #2 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 Individual homozygous or hemizygous for variant; heterozygous with respect to polymorphic repeat markers surrounding the gene, homozygous with respect to polymorphic SNPs in BRIP1; no material available from the parents PubMed: Levitus 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 17 c.2392C>T r.(?) p.(Arg798*) FA Parent #2 - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 also published in Levitus et al, 2005 PubMed: Litman 2005 - - Unknown ? - - - - DNA SEQ - - FANCJ - - This individual was also published in Levitus et al, 2005 ? ? - - - - - - 1 Arleen D. Auerbach
+/+ 17 c.2392C>T r.(?) p.(Arg798*) FA Maternal (inferred) - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - Auerbach Lab; Auerbach Lab - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/+ 17 c.2392C>T r.(?) p.(Arg798*) FA Maternal (inferred) - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - Auerbach Lab; Auerbach Lab - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/+ 17 c.2392C>T r.(?) p.(Arg798*) FA Maternal (confirmed) - pathogenic g.59793412G>A g.61716051G>A - - BRIP1_000007 - Auerbach Lab; Auerbach Lab - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - - - - - - 1 Arleen D. Auerbach
?/. 17 c.2392C>T r.(?) p.(Arg798*) FA Maternal (inferred) - VUS g.59793412G>A g.61716051G>A - - BRIP1_000007 - - - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - - - - - - 1 Arleen D. Auerbach
?/. 17 c.2392C>T r.(?) p.(Arg798*) FA Maternal (inferred) - VUS g.59793412G>A g.61716051G>A - - BRIP1_000007 - - - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - - - - - - 1 Arleen D. Auerbach
?/. 17 c.2392C>T r.(?) p.(Arg798*) FA Maternal (inferred) - VUS g.59793412G>A g.61716051G>A - - BRIP1_000007 - - - - Unknown ? - - - - DNA SEQ - - FANCJ - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. - c.2392C>T r.(?) p.(Arg798Ter) - Unknown - pathogenic g.59793412G>A g.61716051G>A BRIP1(NM_032043.2):c.2392C>T (p.R798*), BRIP1(NM_032043.3):c.2392C>T (p.R798*) - BRIP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2392C>T r.(?) p.(Arg798*) - Unknown - VUS g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Lhota 2016 - rs137852986 Germline - - - - - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - - - - 1 Zdenek Kleibl
?/. - c.2392C>T r.(?) p.(Arg798*) - Parent #1 - NA g.59793412G>A - chr17_59793412_G_A - BRIP1_000007 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 - 25/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 25 BRIDGES consortium
?/. - c.2392C>T r.(?) p.(Arg798*) - Parent #1 - NA g.59793412G>A - chr17_59793412_G_A - BRIP1_000007 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 - 18/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 18 BRIDGES consortium
+/. - c.2392C>T r.(?) p.(Arg798Ter) - Parent #1 ACMG pathogenic (dominant) g.59793412G>A g.61716051G>A - - BRIP1_000007 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat116 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.2392C>T r.(?) p.(Arg798Ter) - Unknown - pathogenic g.59793412G>A - BRIP1(NM_032043.2):c.2392C>T (p.R798*), BRIP1(NM_032043.3):c.2392C>T (p.R798*) - BRIP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2392C>T r.(?) p.(Arg798Ter) - Unknown - pathogenic g.59793412G>A - BRIP1(NM_032043.2):c.2392C>T (p.R798*), BRIP1(NM_032043.3):c.2392C>T (p.R798*) - BRIP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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