All transcript variants in gene BRCA1

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_007294.3 transcript reference sequence.

1678 entries on 17 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

ClassClinical     

Non_Public     

FunctionalAnalysis/Technique     

FunctionalAnalysis/Result     

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.-408T>A r.= p.= NA - - - - g.41277676A>T - - - BRCA1_005308 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
?/. _1 c.-380G>A r.= p.= NA - - - - g.41277648C>T - - - BRCA1_005307 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
?/. _1 c.-378C>A r.= p.= NA - - - - g.41277646G>T - - - BRCA1_005306 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
+?/. 1 c.-315del r.(=) p.(=) NA - - - - g.41277583del - - - BRCA1_005303 expression cloning luciferase assay 0.7x decreased (MCF7 cells) PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
+?/. 1 c.-287C>T r.(=) p.(=) NA - - - - g.41277555G>A - - - BRCA1_005302 expression cloning luciferase assay 1.5x increased (MCF7 cells) PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
?/. 1 c.-273G>A r.= p.= NA - - - - g.41277541C>T - - - BRCA1_004586 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
?/. 1 c.-264T>G r.= p.= NA - - - - g.41277532A>C - - - BRCA1_005301 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
?/. 1 c.-220C>A r.= p.= NA - - - - g.41277488G>T - - - BRCA1_005300 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
+?/. 1 c.-192T>C r.(=) p.(=) NA - - - - g.41277460A>G - - - BRCA1_004585 expression cloning luciferase assay 0.7x decreased (MCF7 cells) PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
+/. 1i_3i c.(-20+1_-19-1)_(134+1_135-1)del r.spl p.Met1_Cys47del NA - mRNA analysis (RT-PCR) predicted deleterious - g.(41258551_41267742)_(41276133_41277287)del - Inframe deletion exon 2/3 - BRCA1_000017 - PubMed: Marino 2009 - - In vitro (cloned) - - - 0 - Peter Devilee
-?/. 1i c.-19-22_-19-21dup r.= ? NA - Splicing reporter minigene predicted neutral - g.41276153_41276154dup g.43124136_43124137dup 101-21insAT - BRCA1_000552 Use of cryptic splice site in exon 3 PubMed: Steffensen 2014 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
-?/. 1i c.-19-10T>C r.= ? NA - Splicing reporter minigene predicted neutral - g.41276142A>G g.43124125A>G 101-10T>C - BRCA1_000004 - PubMed: Steffensen 2014 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
-/. 1i c.-19-10T>C r.= ? NA - mRNA analysis (RT-PCR) as wildtype control - g.41276142A>G g.43124125A>G IVS1-10T>C - BRCA1_000004 - PubMed: Fetzer 1999 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 2 c.-3G>C ? ? NA - ? ? - g.41276116C>G g.43124099C>G 117G>C (5' UTR) - BRCA1_000005 - PubMed: Morris 2006 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 2 c.19C>T - p.Arg7Cys NA - E3 Ub-ligase activity assay BRCA1/RING-BARD1 as wildtype control - g.41276095G>A g.43124078G>A R7C - BRCA1_000006 - PubMed: Morris 2006 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 2 c.32T>C - p.Val11Ala NA - E3 Ub-ligase activity assay BRCA1/RING-BARD1 as wildtype control - g.41276082A>G g.43124065A>G V11A - BRCA1_000007 - PubMed: Morris 2006 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 2 c.32T>C ? p.Val11Ala NA - ? ? - g.41276082A>G g.43124065A>G V11A - BRCA1_000007 - PubMed: Ruffner 2001 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 2 c.32T>C - p.Val11Ala NA - peptide binding ability BRCA1/RING-BARD1 as variant control - g.41276082A>G g.43124065A>G V11A - BRCA1_000007 - PubMed: Sarkar and Magliery 2008 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 2 c.43A>C - p.Ile15Leu NA - evolutionary conservation analysis predicted neutral - g.41276071T>G g.43124054T>G I15L - BRCA1_000008 - PubMed: Abkevich 2004 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 2 c.43A>C - p.Ile15Leu NA - E3 Ub-ligase activity assay BRCA1/RING-BARD1 as wildtype control - g.41276071T>G g.43124054T>G I15L - BRCA1_000008 - PubMed: Morris 2006 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 2 c.44T>C - p.Ile15Thr NA - evolutionary conservation analysis predicted deleterious - g.41276070A>G g.43124053A>G I15T - BRCA1_000009 - PubMed: Abkevich 2004 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 2 c.44T>C - p.Ile15Thr NA - E3 Ub-ligase activity assay BRCA1/RING-BARD1 as variant control - g.41276070A>G g.43124053A>G I15T - BRCA1_000009 - PubMed: Morris 2006 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 2 c.44T>C - p.Ile15Thr NA - peptide binding ability BRCA1/RING-BARD1 as wildtype control - g.41276070A>G g.43124053A>G I15T - BRCA1_000009 - PubMed: Sarkar and Magliery 2008 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 2 c.53T>A - p.Met18Lys NA - E3 Ub-ligase activity assay BRCA1/RING-BARD1 as variant control - g.41276061A>T g.43124044A>T M18K - BRCA1_000010 - PubMed: Morris 2006 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 2 c.53T>A - p.Met18Lys NA - peptide binding ability BRCA1/RING-BARD1 as variant control - g.41276061A>T g.43124044A>T M18K - BRCA1_000010 - PubMed: Sarkar and Magliery 2008 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 2 c.53T>C - p.Met18Thr NA - Multifactorial likelihood-ratio model predicted deleterious - g.41276061A>G g.43124044A>G M18T - BRCA1_000011 - PubMed: Easton 2007 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 2 c.53T>C - p.Met18Thr NA - evolutionary conservation analysis predicted deleterious - g.41276061A>G g.43124044A>G M18T - BRCA1_000011 - PubMed: Greenman 1998 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 2 c.53T>C ? p.Met18Thr NA - ? ? - g.41276061A>G g.43124044A>G M18T - BRCA1_000011 - PubMed: Langston 1996 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 2 c.53T>C - p.Met18Thr NA - Co-segregation in families predicted deleterious - g.41276061A>G g.43124044A>G M18T - BRCA1_000011 - PubMed: Mohammadi 2009 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 2 c.53T>C - p.Met18Thr NA - E3 Ub-ligase activity assay BRCA1/RING-BARD1 as variant control - g.41276061A>G g.43124044A>G M18T - BRCA1_000011 - PubMed: Morris 2006 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 2 c.53T>C - p.Met18Thr NA - E3 Ub-ligase activity assay BRCA1/RING-BARD1 as wildtype control - g.41276061A>G g.43124044A>G M18T - BRCA1_000011 - PubMed: Morris and Solomon 2004 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 2 c.53T>C - p.Met18Thr NA - evolutionary conservation analysis predicted deleterious - g.41276061A>G g.43124044A>G M18T - BRCA1_000011 - PubMed: Pettigrew 2005 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 2 c.53T>C - p.Met18Thr NA - Homology directed recombination impact on protein function - g.41276061A>G g.43124044A>G M18T - BRCA1_000011 - PubMed: Ransburgh 2010 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
+?/. 2 c.53T>C - p.Met18Thr NA - protein binding ability BARD1 weak binding - g.41276061A>G g.43124044A>G M18T - BRCA1_000011 - PubMed: Ransburgh 2010 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
-/. 2 c.53T>C - p.Met18Thr NA - E3 Ub-ligase activity assay as wildtype control - g.41276061A>G g.43124044A>G M18T - BRCA1_000011 - PubMed: Ruffner 2001 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 2 c.53T>C - p.Met18Thr NA - peptide binding ability BRCA1/RING-BARD1 as wildtype control - g.41276061A>G g.43124044A>G M18T - BRCA1_000011 - PubMed: Sarkar and Magliery 2008 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 2 c.61A>G - p.Ile21Val NA - E3 Ub-ligase activity assay BRCA1/RING-BARD1 as wildtype control - g.41276053T>C g.43124036T>C I21V - BRCA1_000012 - PubMed: Morris 2006 - - In vitro (cloned) - - - 0 - Peter Devilee
-?/. 2 c.61A>G - p.Ile21Val NA - Homology directed recombination no impact on protein function - g.41276053T>C g.43124036T>C I21V - BRCA1_000012 - PubMed: Ransburgh 2010 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
-/. 2 c.61A>G - p.Ile21Val NA - protein binding ability BARD1 normal binding - g.41276053T>C g.43124036T>C I21V - BRCA1_000012 - PubMed: Ransburgh 2010 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
-/. 2 c.61A>G - p.Ile21Val NA - E3 Ub-ligase activity assay as wildtype control - g.41276053T>C g.43124036T>C I21V - BRCA1_000012 - PubMed: Ruffner 2001 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 2 c.61A>G - p.Ile21Val NA - Radiation sensitivity as wildtype control - g.41276053T>C g.43124036T>C I21V - BRCA1_000012 - PubMed: Ruffner 2001 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 2 c.61A>G - p.Ile21Val NA - peptide binding ability BRCA1/RING-BARD1 as wildtype control - g.41276053T>C g.43124036T>C I21V - BRCA1_000012 - PubMed: Sarkar and Magliery 2008 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 2 c.65T>C - p.Leu22Ser NA - Statistical prediction model predicted deleterious - g.41276049A>G g.43124032A>G L22S - BRCA1_000013 - PubMed: Sweet 2009 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 2 c.70T>C - p.Cys24Arg NA - E3 Ub-ligase activity assay BRCA1/RING-BARD1 as variant control - g.41276044A>G g.43124027A>G C24R - BRCA1_000015 - PubMed: Morris 2006 - - In vitro (cloned) - - - 0 - Peter Devilee
+?/. 2 c.70T>C - p.Cys24Arg NA - Homology directed recombination impact on protein function - g.41276044A>G g.43124027A>G C24R - BRCA1_000015 - PubMed: Ransburgh 2010 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
+?/. 2 c.70T>C - p.Cys24Arg NA - protein binding ability BARD1 no binding - g.41276044A>G g.43124027A>G C24R - BRCA1_000015 - PubMed: Ransburgh 2010 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
?/. 2 c.70T>C - p.Cys24Arg NA - E3 Ub-ligase activity assay as variant control - g.41276044A>G g.43124027A>G C24R - BRCA1_000015 - PubMed: Ruffner 2001 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 2 c.70T>C - p.Cys24Arg NA - Radiation sensitivity as variant control - g.41276044A>G g.43124027A>G C24R - BRCA1_000015 - PubMed: Ruffner 2001 - - In vitro (cloned) - - - 0 - Peter Devilee
+?/. 2i c.80+1G>A r.del ? NA - Splicing reporter minigene predicted deleterious - g.41276033C>T g.43124016C>T 199+1G>A - BRCA1_000553 Use of cryptic splice site in intron 5 PubMed: Steffensen 2014 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
-/. 2i c.81-65G>C r.= ? NA - mRNA analysis and splicing reporter minigene predicted neutral - g.41267861C>G g.43115844C>G c.81-65G>C - BRCA1_000003 - PubMed: Bonnet 2008 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 2i c.81-49A>C r.= ? NA - mRNA analysis and splicing reporter minigene predicted neutral - g.41267845T>G g.43115828T>G c.81-49A>C - BRCA1_000002 No aberration compared to control PubMed: Bonnet 2008 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 2i c.81-18C>A r.= NA NA - splicing reporter minigene no splicing defect - g.41267814G>T g.43115797G>T c.81-18 C>A - BRCA1_000542 - PubMed: Théry 2011 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
-?/. 2i c.81-14C>T r.= ? NA - Splicing reporter minigene predicted neutral - g.41267810G>A g.43115793G>A 200-14C>T - BRCA1_000021 - PubMed: Steffensen 2014 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
-?/. 2i c.81-14C>T - ? NA - LOH analysis Loss of variant allele - g.41267810G>A g.43115793G>A IVS2-14C>T - BRCA1_000021 - PubMed: Beristain 2010 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
-/. 2i c.81-14C>T r.= ? NA - mRNA analysis (RT-PCR) as wildtype control - g.41267810G>A g.43115793G>A IVS2-14C>T - BRCA1_000021 - PubMed: Claes 2003 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 2i c.81-14C>T ? ? NA - ? ? - g.41267810G>A g.43115793G>A IVS2-14C>T - BRCA1_000021 - PubMed: Diez 2003 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 2i c.81-14C>T - ? NA - co-occurrence with deleterious variant predicted neutral - g.41267810G>A g.43115793G>A IVS2-14C>T - BRCA1_000021 - PubMed: Judkins 2005a - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 2i c.81-14C>T - ? NA - Histopathology predicted neutral - g.41267810G>A g.43115793G>A IVS2-14C>T - BRCA1_000021 - PubMed: Spearman 2008 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 2i c.81-14C>T r.= NA NA - splicing reporter minigene/patient RNA analysis no splicing defect - g.41267810G>A g.43115793G>A c.81-14 C>T - BRCA1_000021 - PubMed: Théry 2011 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
?/. 2i c.81-13C>A r.= NA NA - splicing reporter minigene/patient RNA analysis no splicing defect - g.41267809G>T g.43115792G>T c.81-13C>A - BRCA1_000540 - PubMed: Théry 2011 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
-/. 2i c.81-13C>G - ? NA - Multifactorial likelihood-ratio model predicted neutral - g.41267809G>C g.43115792G>C IVS2-13C>G - BRCA1_000020 - PubMed: Easton 2007 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 2i c.81-12C>G - ? NA - co-occurrence with deleterious variant predicted neutral - g.41267808G>C g.43115791G>C IVS2-12C>G - BRCA1_000019 - PubMed: Judkins 2005a - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 2i c.81-12C>G - ? NA - co-occurrence with deleterious variant predicted neutral - g.41267808G>C g.43115791G>C IVS2-12C>G - BRCA1_000019 No aberration compared to control PubMed: Judkins 2005b - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 2i c.81-11del - ? NA - Multifactorial likelihood-ratio model predicted neutral - g.41267807del g.43115790del IVS2-11delT - BRCA1_000018 - PubMed: Easton 2007 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 2i c.81-6T>A r.= ? NA - cDNA analysis as variant control - g.41267802A>T g.43115785A>T IVS2-6T>A - BRCA1_000022 - PubMed: Vreeswijk 2008 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 2i c.81-6T>C - ? NA - Histopathology inconclusive - g.41267802A>G g.43115785A>G IVS2-6T>C - BRCA1_000023 - PubMed: Spearman 2008 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 3 c.83T>C - p.Leu28Pro NA - evolutionary conservation analysis predicted deleterious - g.41267794A>G g.43115777A>G L28P - BRCA1_000024 - PubMed: Abkevich 2004 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 3 c.83T>C - p.Leu28Pro NA - E3 Ub-ligase activity assay BRCA1/RING-BARD1 inconclusive - g.41267794A>G g.43115777A>G L28P - BRCA1_000024 - PubMed: Morris 2006 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 3 c.84G>A ? p.Lys28Lys NA - ? ? - g.41267793C>T g.43115776C>T 203G>A - BRCA1_000016 - PubMed: Tommasi 2008 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 3 c.93C>G - p.Ile31Met NA - evolutionary conservation analysis predicted neutral - g.41267784G>C g.43115767G>C I31M - BRCA1_000025 - PubMed: Abkevich 2004 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 3 c.93C>G - p.Ile31Met NA - E3 Ub-ligase activity assay BRCA1/RING-BARD1 as wildtype control - g.41267784G>C g.43115767G>C I31M - BRCA1_000025 - PubMed: Morris 2006 - - In vitro (cloned) - - - 0 - Peter Devilee
-?/. 3 c.93C>G - p.Ile31Met NA - protein binding ability BARD1 normal binding - g.41267784G>C g.43115767G>C I31M - BRCA1_000025 - PubMed: Ransburgh 2010 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
-?/. 3 c.93C>G - p.Ile31Met NA - protein binding ability BARD1 normal binding - g.41267784G>C g.43115767G>C I31M - BRCA1_000025 - PubMed: Ransburgh 2010 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
-/. 3 c.93C>G - p.Ile31Met NA - E3 Ub-ligase activity assay as wildtype control - g.41267784G>C g.43115767G>C I31M - BRCA1_000025 - PubMed: Ruffner 2001 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 3 c.93C>G - p.Ile31Met NA - Radiation sensitivity as wildtype control - g.41267784G>C g.43115767G>C I31M - BRCA1_000025 - PubMed: Ruffner 2001 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 3 c.110C>A - p.Thr37Lys NA - Statistical prediction model predicted deleterious - g.41267767G>T g.43115750G>T T37K - BRCA1_000026 - PubMed: Sweet 2009 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 3 c.110C>G - p.Thr37Arg NA - evolutionary conservation analysis predicted deleterious - g.41267767G>C g.43115750G>C T37R - BRCA1_000027 - PubMed: Abkevich 2004 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 3 c.110C>G - p.Thr37Arg NA - E3 Ub-ligase activity assay BRCA1/RING-BARD1 as variant control - g.41267767G>C g.43115750G>C T37R - BRCA1_000027 - PubMed: Morris 2006 - - In vitro (cloned) - - - 0 - Peter Devilee
+?/. 3 c.110C>G - p.Thr37Arg NA - Homology directed recombination impact on protein function - g.41267767G>C g.43115750G>C T37R - BRCA1_000027 - PubMed: Ransburgh 2010 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
+?/. 3 c.110C>G - p.Thr37Arg NA - protein binding ability BARD1 no binding - g.41267767G>C g.43115750G>C T37R - BRCA1_000027 - PubMed: Ransburgh 2010 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
?/. 3 c.110C>G - p.Thr37Arg NA - Radiation sensitivity as variant control - g.41267767G>C g.43115750G>C T37R - BRCA1_000027 - PubMed: Ruffner 2001 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 3 c.110C>G - p.Thr37Arg NA - E3 Ub-ligase activity assay as variant control - g.41267767G>C g.43115750G>C T37R - BRCA1_000027 - PubMed: Ruffner 2001 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 3 c.114G>A - p.Lys38Lys NA - ? ? - g.41267763C>T g.43115746C>T 233G>A (K38K) - BRCA1_000028 - PubMed: Ho 2000 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 3 c.114G>A - p.Leu38Leu NA - ? ? - g.41267763C>T g.43115746C>T L38L - BRCA1_000028 - PubMed: McKean-Cowdin 2005 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 3 c.114G>T - p.Lys38Asn NA - Evolutionary conservation analysis predicted deleterious - g.41267763C>A g.43115746C>A K38N - BRCA1_000029 - PubMed: Abkevich2004 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 3 c.114G>T - p.Lys38Asn NA - E3 Ub-ligase activity assay BRCA1/RING-BARD1 as wildtype control - g.41267763C>A g.43115746C>A K38N - BRCA1_000029 - PubMed: Morris 2006 - - In vitro (cloned) - - - 0 - Peter Devilee
+?/. 3 c.115T>A - p.Cys39Ser NA - LOH analysis loss of wildtype allele - g.41267762A>T g.43115745A>T p.Cys39Ser - BRCA1_000504 - PubMed: Beristain 2010 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
?/. 3 c.115T>C - p.Cys39Arg NA - E3 Ub-ligase activity assay BRCA1/RING-BARD1 as variant control - g.41267762A>G g.43115745A>G C39R - BRCA1_000031 - PubMed: Morris 2006 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 3 c.115T>G - p.Cys39Gly NA - LOH/Evolutionary conservation predicted deleterious - g.41267762A>C g.43115745A>C C39G - BRCA1_000523 - PubMed: Hansen 2009 - - In vitro (cloned) - - - 0 - Thomas Hansen
?/. 3 c.115_116delinsGC - p.Cys39Ala NA - ? ? - g.41267761_41267762delinsGC g.43115744_43115745delinsGC 115_116TG>GCC(39A) - BRCA1_000030 - PubMed: Brzovic 2001b - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 3 c.116G>A - p.Cys39Tyr NA - ? ? - g.41267761C>T g.43115744C>T C39Y - BRCA1_000032 - PubMed: Ruffner 2001 - - In vitro (cloned) - - - 0 - Peter Devilee
+?/. 3 c.116G>A - p.Cys39Tyr NA - Homology directed recombination impact on protein function - g.41267761C>T g.43115744C>T C39Y - BRCA1_000032 - PubMed: Ransburgh 2010 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
+?/. 3 c.116G>A - p.Cys39Tyr NA - Protein binding ability BARD1 impact on protein function - g.41267761C>T g.43115744C>T C39Y - BRCA1_000032 - PubMed: Ransburgh 2010 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
?/. 3 c.121_122delinsGC ? p.His41Ala NA - ? ? - g.41267755_41267756delinsGC g.43115738_43115739delinsGC 121_122CA>GC H41A - BRCA1_000033 - PubMed: Brzovic 2001b - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 3 c.122A>G - p.His41Arg NA - E3 Ub-ligase activity assay BRCA1/RING-BARD1 as variant control - g.41267755T>C g.43115738T>C H41R - BRCA1_000034 - PubMed: Morris 2006 - - In vitro (cloned) - - - 0 - Peter Devilee
?/. 3 c.122A>G - p.His41Arg NA - protein binding ability BARD1 weak binding - g.41267755T>C g.43115738T>C H41R - BRCA1_000034 - PubMed: Ransberg 2010 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
+?/. 3 c.122A>G - p.His41Arg NA - Homology directed recombination impact on protein function - g.41267755T>C g.43115738T>C H41R - BRCA1_000034 - PubMed: Ransbergh 2010 - - In vitro (cloned) - - - 0 - Maaike Vreeswijk
-/. 3 c.124A>G - p.Ile42Val NA - evolutionary conservation analysis predicted neutral - g.41267753T>C g.43115736T>C I42V - BRCA1_000035 - PubMed: Abkevich 2004 - - In vitro (cloned) - - - 0 - Peter Devilee
-/. 3 c.124A>G - p.Ile42Val NA - E3 Ub-ligase activity assay BRCA1/RING-BARD1 as wildtype control - g.41267753T>C g.43115736T>C I42V - BRCA1_000035 - PubMed: Morris 2006 - - In vitro (cloned) - - - 0 - Peter Devilee
+/. 3 c.124A>G - p.Ile42Val NA - evolutionary conservation analysis predicted deleterious - g.41267753T>C g.43115736T>C I42V - BRCA1_000035 - PubMed: Pettigrew 2005 - - In vitro (cloned) - - - 0 - Peter Devilee
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