All transcript variants in gene BRCA2

All records describing functional studies of specific variants.
Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
Information The variants shown are described using the NM_000059.3 transcript reference sequence.

980 entries on 10 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

ClassClinical     

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.-407G>A r.= p.= NA - g.32889437G>A - - - BRCA2_006627 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
?/. _1 c.-395C>T r.= p.= NA - g.32889449C>T - - - BRCA2_006628 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
+?/. _1 c.-296C>T r.(=) p.(=) NA - g.32889548C>T - - - BRCA2_006630 expression cloning luciferase assay 0.5x decreased (MCF7 cells) PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
?/. _1 c.-280del r.= p.= NA - g.32889564delG - - - BRCA2_006631 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
?/. _1 c.-268C>G r.= p.= NA - g.32889576C>G - - - BRCA2_006633 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
?/. 1 c.-218G>A r.= p.= NA - g.32889626G>A - - - BRCA2_006635 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
?/. 1 c.-200C>T r.= p.= NA - g.32889644C>T - - - BRCA2_006636 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
?/. 1 c.-197A>C r.= p.= NA - g.32889647A>C - - - BRCA2_006637 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
?/. 1 c.-175C>T r.= p.= NA - g.32889669C>T - - - BRCA2_003946 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
?/. 1 c.-133T>G r.= p.= NA - g.32889711T>G - - - BRCA2_006638 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
?/. 1 c.-87T>G r.= p.= NA - g.32889757T>G - - - BRCA2_006639 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
?/. 1 c.-82G>C r.= p.= NA - g.32889762G>C - - - BRCA2_005829 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
+?/. 1i c.-40+1G>A r.-138_-40del p.(=) NA - g.32889805G>A g.32315668G>A c.-40+1G>A - BRCA2_000520 Embryonic stem cell assay, RNA analysis; strong functional effect, disruption exon 1 donor site, use of alternative donor site middle of exon 1 (BRCA2 c.-139) PubMed: Bakker 2014 - - In vitro (cloned) - - - 0 - Janine Bakker
?/. 1i c.-40+8G>A ? ? NA - g.32889812G>A g.32315675G>A IVS1+8G/A - BRCA2_000001 - PubMed: Hadjisavvas 2003 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 1i c.-39-96dup ? ? NA - g.32890463dup g.32316326dup IVS1-96insA - BRCA2_000003 - PubMed: Hadjisavvas 2003 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 1i c.-39-7_-39-5del r.= ? NA - g.32890552_32890554del g.32316415_32316417del IVS1-9del3 - BRCA2_000004 mRNA analysis (RT-PCR); as wildtype control PubMed: Bonatti 2006 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 2 c.-26G>A ? ? NA - g.32890572G>A g.32316435G>A 203G/A (5' UTR) - BRCA2_000005 - PubMed: Diez 2003 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 2 c.-26G>A - ? NA - g.32890572G>A g.32316435G>A 203G/A (5' UTR) - BRCA2_000005 Prevalence in normal controls; predicted neutral PubMed: Wagner 1999 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 2 c.-26G>C ? ? NA - g.32890572G>C g.32316435G>C 203G/C - BRCA2_000002 - PubMed: Diez 2003 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 2 c.-14T>G - ? NA - g.32890584T>G g.32316447T>G 217T/G - BRCA2_000006 Prevalence in normal controls; predicted neutral PubMed: Wagner 1999 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 2 c.-11C>T ? ? NA - g.32890587C>T g.32316450C>T 218C>T - BRCA2_000007 - PubMed: Diez 2003 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 2 c.51_52del - p.Arg18Leufs*12 NA - g.32890648_32890649del g.32316511_32316512del 279delAC - BRCA2_000008 Cell viability (in BRCA-/- cells); as variant control PubMed: Kuznetsov 2008 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 2 c.53G>A - p.Arg18His NA - g.32890650G>A g.32316513G>A R18H - BRCA2_000009 Multifactorial likelihood-ratio model; predicted neutral PubMed: Spurdle 2008 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 2i c.67+1G>A r.-39_67del ? NA - g.32890665G>A g.32316528G>A IVS2+1G>A - BRCA2_000010 mRNA analysis (RT-PCR); exon 2 deletion PubMed: Bonatti 2006 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 2i c.67+2T>C ? ? NA - g.32890666T>C g.32316529T>C IVS2+2T/C - BRCA2_000011 - PubMed: Diez 2003 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 2i c.67+62T>G ? ? NA - g.32890726T>G g.32316589T>G IVS2+62T/G - BRCA2_000012 - PubMed: Hadjisavvas 2003 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 2i c.67+62T>G - ? NA - g.32890726T>G g.32316589T>G IVS2+62T/G - BRCA2_000012 Prevalence in normal controls; predicted neutral PubMed: Wagner 1999 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 2i c.68-7del r.= ? NA - g.32893207del g.32319070del c.68-7delT - BRCA2_000538 splicing reporter minigene/patient RNA analysis; no splicing defect PubMed: Théry 2011 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
?/. 2i c.68-7T>A r.= ? NA - g.32893207T>A g.32319070T>A c.68-7T>A - BRCA2_000013 splicing reporter minigene/patient RNA analysis; no splicing defect PubMed: Théry 2011 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
?/. 2i c.68-7T>A r.= ? NA - g.32893207T>A g.32319070T>A IVS2-7T>A - BRCA2_000013 cDNA analysis; as variant control PubMed: Vreeswijk 2008 - - In vitro (cloned) - - - 0 - Peter Devilee
+?/. 3 c.73G>A - p.Gly25Arg NA - g.32893219G>A g.32319082G>A - - BRCA2_000545 Embryonic stem cell assay; normal viability, increased sensitivity, reduced HR PubMed: Biswas 2012 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
+/. 3 c.79A>G - p.Ile27Val NA - g.32893225A>G g.32319088A>G I27V - BRCA2_000014 Co-localization to predicted ESEs; predicted deleterious PubMed: Pettigrew 2007 - - In vitro (cloned) - - - 0 - Peter Devilee
+?/. 3 c.91T>C - p.Try31Arg NA - g.32893237T>C g.32319100T>C - - BRCA2_000546 Embryonic stem cell assay; no rescue ES cell lethality PubMed: Biswas 2012 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
+?/. 3 c.93G>T - p.Try31Cys NA - g.32893239G>T g.32319102G>T - - BRCA2_000547 Embryonic stem cell assay; no rescue ES cell lethality PubMed: Biswas 2012 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
?/. 3 c.125A>G ? p.Tyr42Cys NA - g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 - PubMed: Bergthorsson 2001 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 3 c.125A>G - p.Tyr42Cys NA - g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 LOH analysis; Loss of wild type allele PubMed: Beristain 2010 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
-/. 3 c.125A>G - p.Tyr42Cys NA - g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Multifactorial likelihood-ratio model; predicted neutral PubMed: Chenevix-Trench 2006 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 3 c.125A>G ? p.Tyr42Cys NA - g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 - PubMed: Edwards 2003 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 3 c.125A>G - p.Tyr42Cys NA - g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Multifactorial likelihood-ratio model; predicted neutral PubMed: Farrugia 2008 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 3 c.125A>G - p.Tyr42Cys NA - g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Prevalence in normal controls; predicted neutral PubMed: Goldgar 2004 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 3 c.125A>G - p.Tyr42Cys NA - g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Multifactorial likelihood-ratio model; predicted neutral PubMed: Goldgar 2004 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 3 c.125A>G - p.Tyr42Cys NA - g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 family history; predicted neutral PubMed: Gomez-Garcia 2009 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 3 c.125A>G - p.Tyr42Cys NA - g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Cell viability (in BRCA-/- cells); as wildtype control PubMed: Kuznetsov 2008 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 3 c.125A>G - p.Tyr42Cys NA - g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Transcription activation in yeast (GAL4-fusions); as variant control PubMed: Milner 1997 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 3 c.125A>G ? p.Tyr42Cys NA - g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 - PubMed: Salazar 2006 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 3 c.125A>G - p.Tyr42Cys NA - g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Histopathology; predicted neutral PubMed: Spearman 2008 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 3 c.125A>G ? p.Tyr42Cys NA - g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 - PubMed: Spitzer 2000 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 3 c.125A>G ? p.Tyr42Cys NA - g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 - PubMed: Turner 1999 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 3 c.125A>G - p.Tyr42Cys NA - g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 co-immunoprecipitation BRCA2:RPA; predicted deleterious PubMed: Wong 2003 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 3 c.125A>G - p.Tyr42Cys NA - g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Nuclear localisation; as wildtype control PubMed: Wu 2005 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 3 c.125A>G - p.Tyr42Cys NA - g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 co-occurrence with deleterious variant; predicted neutral PubMed: Wu 2005 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 3 c.125A>G - p.Tyr42Cys NA - g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Co-segregation in families; predicted neutral PubMed: Wu 2005 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 3 c.125A>G - p.Tyr42Cys NA - g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Survival assay with VC8 (after MMC treatment); predicted neutral PubMed: Wu 2005 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 3 c.125A>G - p.Tyr42Cys NA - g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Homology-directed repair assay; predicted neutral PubMed: Wu 2005 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 3 c.125A>G - p.Tyr42Cys NA - g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Centrosome amplification; as wildtype control PubMed: Wu 2005 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 3 c.125A>G - p.Tyr42Cys NA - g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 evolutionary conservation analysis; predicted neutral PubMed: Wu 2005 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 3 c.145G>T r.68_316del p.[Asp23_Leu105del, Glu49*] NA - g.32893291G>T g.32319154G>T - - BRCA2_000017 ESEfinder/ESRsearch, hybrid minigenes; ESE disruption, skipping of exon 3 is almost total, but a small fraction of mRNA species with r.145g>u change is present PubMed: Sanz 2010 - - In vitro (cloned) - - - 0 - Eladio A Velasco
?/. 3 c.145G>T ? p.Glu49* NA - g.32893291G>T g.32319154G>T E49X - BRCA2_000017 - PubMed: Bergthorsson 2001 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 3 c.156_157ins(Alu) ? ND NA - g.32893302_32893303ins? - - - BRCA2_000518 - PubMed: Teugels 2009 - - In vitro (cloned) - - - 0 - Erik Teugels
-/. 3 c.167A>C - p.Asn56Thr NA - g.32893313A>C g.32319176A>C N56T - BRCA2_000018 Multifactorial likelihood-ratio model; predicted neutral PubMed: Easton 2007 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 3 c.189A>C - p.Lys63Asn NA - g.32893335A>C g.32319198A>C K63N - BRCA2_000019 Co-localization to predicted ESEs; predicted deleterious PubMed: Pettigrew 2007 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 3 c.223G>C ? p.Ala75Pro NA - g.32893369G>C g.32319232G>C A75P - BRCA2_000020 - PubMed: Diez 2003 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 3 c.223G>C - p.Ala75Pro NA - g.32893369G>C g.32319232G>C A75P - BRCA2_000020 Multifactorial likelihood-ratio model; predicted neutral PubMed: Easton 2007 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 3 c.223G>C r.= p.Ala75Pro NA - g.32893369G>C g.32319232G>C c.223G>C - BRCA2_000020 splicing reporter minigene/patient RNA analysis; no splicing defect PubMed: Théry 2011 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
?/. 3 c.231T>G ? p.Thr77Thr NA - g.32893377T>G g.32319240T>G T77T - BRCA2_000021 - PubMed: Hadjisavvas 2003 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 3i c.316+5G>C r.spl ? NA - g.32893467G>C g.32319330G>C c.316+5G>C - BRCA2_000015 mRNA analysis and splicing reporter minigene; predicted deleterious PubMed: Bonnet 2008 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 3i c.317-22C>T - ? NA - g.32899191C>T g.32325054C>T IVS3-22C/T - BRCA2_000023 Prevalence in normal controls; predicted neutral PubMed: Wagner 1999 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 4 c.322A>C ? p.Asn108His NA - g.32899218A>C g.32325081A>C N108H - BRCA2_000024 - PubMed: Diez 2003 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 4 c.322A>C - p.Asn108His NA - g.32899218A>C g.32325081A>C N108H - BRCA2_000024 Prevalence in normal controls; predicted neutral PubMed: Wagner 1999 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 4i c.425+36A>G ? ? NA - g.32899357A>G g.32325220A>G IVS4+36A/G - BRCA2_000025 - PubMed: Hadjisavvas 2003 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 4i c.426-89T>C ? ? NA - g.32900149T>C g.32326012T>C IVS4-89T/C - BRCA2_000028 - PubMed: Tommasi 2008 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 4i c.426-47G>T - ? NA - g.32900191G>T g.32326054G>T IVS4-47G/T - BRCA2_000026 Prevalence in normal controls; predicted neutral PubMed: Wagner 1999 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 4i c.426-12_426-8del r.spl p.? NA - g.32900226_32900230del g.32326089_32326093del IVS4-12del5 - BRCA2_000022 mRNA analysis (RT-PCR); predicted deleterious PubMed: Zhang 2009 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 5 c.439C>T r.[426_475del, 145g>u] p.Pro143Glyfs*22 NA - g.32900251C>T g.32326114C>T - - BRCA2_000487 ESEfinder/ESRsearch. RT-PCR /hybrid minigenes; ESE disruption/ESS creation, exon 5 skipping PubMed: Sanz 2010 - - In vitro (cloned) - - - 0 - Eladio A Velasco
-/. 8 c.445A>G r.= p.Thr225Ala NA - g.32900257A>G g.32326120A>G T225A - BRCA2_000042 mRNA analysis (RT-PCR); as wildtype control PubMed: Sharp 2004 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 5 c.449A>G ? p.His150Arg NA - g.32900261A>G g.32326124A>G H150R - BRCA2_000029 - PubMed: Salazar 2006 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 5i c.476-2A>G - ? NA - g.32900377A>G g.32326240A>G IVS5-2A>G - BRCA2_000031 Multifactorial likelihood-ratio model; predicted deleterious PubMed: Easton 2007 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 6 c.502C>A - p.Pro168Thr NA - g.32900405C>A g.32326268C>A P168T - BRCA2_000033 Multifactorial likelihood-ratio model; predicted neutral PubMed: Easton 2007 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 6 c.502C>A - p.Pro168Thr NA - g.32900405C>A g.32326268C>A P168T - BRCA2_000033 Co-localization to predicted ESEs; predicted deleterious PubMed: Pettigrew 2007 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 6 c.502C>G - p.Pro168Ala NA - g.32900405C>G g.32326268C>G P168A - BRCA2_000032 Co-localization to predicted ESEs; predicted deleterious PubMed: Pettigrew 2007 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 6 c.516G>A r.[476_516del, 426_516del] p.[Val159Glyfs, Ser142Argfs] NA - g.32900419G>A g.32326282G>A K172K - BRCA2_000036 mRNA analysis; skipping exon 6 and/or both exon 5 and 6 PubMed: Hansen 2010 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
+/. 6 c.516G>A r.spl p.Lys171Lys NA - g.32900419G>A g.32326282G>A K172K - BRCA2_000036 cDNA analysis; predicted deleterious PubMed: Hansen 2009 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 6i c.516+1G>A r.= ? NA - g.32900420G>A g.32326283G>A IVS6+1G>A - BRCA2_000035 mRNA analysis (RT-PCR); as variant control PubMed: Claes 2003 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 6i c.516+14C>T r.= ? NA - g.32900433C>T g.32326296C>T c.516+14C>T - BRCA2_000030 mRNA analysis and splicing reporter minigene; predicted neutral PubMed: Bonnet 2008 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 6i c.516+18T>C - ? NA - g.32900437T>C g.32326300T>C IVS6+18T/C - BRCA2_000034 Prevalence in normal controls; predicted neutral PubMed: Wagner 1999 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 6i c.517-20A>G r.= ? NA - g.32900616A>G g.32326479A>G c.517-20A>G - BRCA2_000539 splicing reporter minigene/patient RNA analysis; no splicing defect PubMed: Théry 2011 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
-/. 6i c.517-4C>G - ? NA - g.32900632C>G g.32326495C>G IVS6-4C>G - BRCA2_000037 Prevalence in normal controls; predicted neutral PubMed: Wagner 1999 - - In vitro (cloned) - - - 0 - Peter Devilee
+?/. 7 c.517G>T r.spl p.Gly173Cys NA - g.32900636G>T g.32326499G>T c.517G>T - BRCA2_000522 splicing reporter minigene; major exon skipping PubMed: Gaildrat 2012 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
-?/. 7 c.518G>T - p.Gly173Val NA - g.32900637G>T g.32326500G>T G173V - BRCA2_000502 HR assay, LOH assay; predicted neutral, no LOH PubMed: Balia 2011 - - In vitro (cloned) - - - 0 - Åsa Ehlén
+?/. 7 c.520C>T r.spl p.Arg174Cys NA - g.32900639C>T g.32326502C>T c.520C>T - BRCA2_000523 splicing reporter minigene, patient RNA analysis; major exon skipping PubMed: Gaildrat 2012 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
?/. 7 c.522T>G r.= p.= NA - g.32900641T>G g.32326504T>G c.522T>G - BRCA2_000524 splicing reporter minigene; no splicing defect PubMed: Gaildrat 2012 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
+?/. 7 c.572A>G r.spl p.Asp191Gly NA - g.32900691A>G g.32326554A>G c.572A>G - BRCA2_000525 splicing reporter minigene; major exon skipping PubMed: Gaildrat 2012 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
+?/. 7 c.572A>T - p.Asp191Val NA - g.32900691A>T g.32326554A>T D191V - BRCA2_000499 HR assay, LOH assay; predicted pathogenic, no LOH PubMed: Balia 2011 - - In vitro (cloned) - - - 0 - Åsa Ehlén
+?/. 7 c.581G>A r.spl p.Thp194* NA - g.32900700G>A g.32326563G>A 809G>A - BRCA2_000517 Mouse ES cell assay, RNA analysis, partial exon 7 deletion ; partial rescue lethality; HR as wt PubMed: Biswas 2011 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
?/. 7 c.587G>A r.spl p.Ser196Asn NA - g.32900706G>A g.32326569G>A c.587G>A - BRCA2_000526 splicing reporter minigene; moderate exon skipping PubMed: Gaildrat 2012 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
?/. 7 c.617C>G r.[=, 517_631del] p.[Ser206Cys, Gly173Serfs] NA - g.32900736C>G g.32326599C>G c.617C>G - BRCA2_000527 splicing reporter minigene/patient RNA analysis; exon skipping ~50% PubMed: Gaildrat 2012 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
+/. 7 c.619A>G - p.Thr207Ala NA - g.32900738A>G g.32326601A>G T207A - BRCA2_000038 Co-localization to predicted ESEs; predicted deleterious PubMed: Pettigrew 2007 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 7 c.625C>T r.= p.Leu209Phe NA - g.32900744C>T g.32326607C>T c.625C>T - BRCA2_000528 splicing reporter minigene; no splicing defect PubMed: Gaildrat 2012 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
+/. 7 c.631G>A r.spl p.Val211Ile NA - g.32900750G>A g.32326613G>A V211I - BRCA2_000040 mRNA analysis (RT-PCR); predicted deleterious PubMed: Colombo 2009 - - In vitro (cloned) - - - 0 - Peter Devilee
+?/. 7 c.631G>A r.spl p.Val211Ile NA - g.32900750G>A g.32326613G>A c.631G>A - BRCA2_000040 splicing reporter minigene; major exon skipping PubMed: Gaildrat 2012 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10     Next › Last »