Full data view for gene BRCA2

All records describing functional studies of specific variants.
BRCA2 variants classified by the ENIGMA consortium.
Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
Information The variants shown are described using the NM_000059.3 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
Legend   How to query  

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     
?/? 11 c.4090A>C r.(?) p.(Ile1364Leu) - Unknown - VUS g.32912582A>C g.32338445A>C - - BRCA2_001940 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 11 c.4090A>C r.(?) p.(Ile1364Leu) - Unknown - VUS g.32912582A>C g.32338445A>C - - BRCA2_001940 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/? 11 c.4090A>C r.(?) p.(Ile1364Leu) - Unknown - VUS g.32912582A>C g.32338445A>C - - BRCA2_001940 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/? 11 c.4090A>C r.(?) p.(Ile1364Leu) - Unknown - VUS g.32912582A>C g.32338445A>C - - BRCA2_001940 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 11 c.4090A>C r.(?) p.(Ile1364Leu) - Unknown - VUS g.32912582A>C g.32338445A>C - - BRCA2_001940 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
-/- 11 c.4090A>C r.(?) p.(Ile1364Leu) - Unknown - benign g.32912582A>C g.32338445A>C - - BRCA2_001940 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Katrien Storm
-/- 11 c.4090A>C r.(?) p.(Ile1364Leu) - Parent #1 - benign g.32912582A>C g.32338445A>C 4318A/C (1364 Ile to Leu) - BRCA2_001940 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
-/. 11 c.4090A>C r.(?) p.(Ile1364Leu) - Unknown - benign g.32912582A>C g.32338445A>C - - BRCA2_001940 - shared by Quest Diagnostics - rs56248502 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/. 11 c.4090A>C r.(?) p.(Ile1364Leu) - Unknown - benign g.32912582A>C g.32338445A>C - - BRCA2_001940 freq 1.8% in african americans, op basis van naam afrikaanse origine? - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
-/- 11 c.4090A>C r.(?) p.(Ile1364Leu) - Parent #1 - benign g.32912582A>C g.32338445A>C - - BRCA2_001940 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02236 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4090A>C r.(?) p.(Ile1364Leu) - Unknown - benign g.32912582A>C g.32338445A>C BRCA2(NM_000059.3):c.4090A>C (p.I1364L, p.(Ile1364Leu)), BRCA2(NM_000059.4):c.4090A>C (p.I1364L) - BRCA2_001940 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4090A>C r.(?) p.(Ile1364Leu) - Unknown - benign g.32912582A>C g.32338445A>C BRCA2(NM_000059.3):c.4090A>C (p.I1364L, p.(Ile1364Leu)), BRCA2(NM_000059.4):c.4090A>C (p.I1364L) - BRCA2_001940 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4090A>C r.(?) p.(Ile1364Leu) - Unknown - benign g.32912582A>C g.32338445A>C BRCA2(NM_000059.3):c.4090A>C (p.I1364L, p.(Ile1364Leu)), BRCA2(NM_000059.4):c.4090A>C (p.I1364L) - BRCA2_001940 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4090A>C r.(?) p.(Ile1364Leu) - Unknown - benign g.32912582A>C g.32338445A>C BRCA2(NM_000059.3):c.4090A>C (p.I1364L, p.(Ile1364Leu)), BRCA2(NM_000059.4):c.4090A>C (p.I1364L) - BRCA2_001940 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4090A>C r.(?) p.(Ile1364Leu) - Unknown - benign g.32912582A>C g.32338445A>C BRCA2(NM_000059.3):c.4090A>C (p.I1364L, p.(Ile1364Leu)), BRCA2(NM_000059.4):c.4090A>C (p.I1364L) - BRCA2_001940 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4090A>C r.(?) p.(Ile1364Leu) - Parent #1 - NA g.32912582A>C - chr13_32912582_A_C - BRCA2_001940 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 - - - 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 - 3 BRIDGES consortium
?/. - c.4090A>C r.(?) p.(Ile1364Leu) - Parent #1 - NA g.32912582A>C - chr13_32912582_A_C - BRCA2_001940 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 - 4/53461 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 - 4 BRIDGES consortium
-/. - c.4090A>C r.(?) p.(Ile1364Leu) - Unknown - benign g.32912582A>C - BRCA2(NM_000059.3):c.4090A>C (p.I1364L, p.(Ile1364Leu)), BRCA2(NM_000059.4):c.4090A>C (p.I1364L) - BRCA2_001940 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4090A>C r.(?) p.(Ile1364Leu) - Unknown - benign g.32912582A>C - BRCA2(NM_000059.3):c.4090A>C (p.I1364L, p.(Ile1364Leu)), BRCA2(NM_000059.4):c.4090A>C (p.I1364L) - BRCA2_001940 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.4090A>C r.(?) p.(Ile1364Leu) - Unknown - benign g.32912582A>C g.32338445A>C - - BRCA2_001940 - PubMed: Oosthuizen 2021 - rs56248502 Germline - 0.024 - - - DNA SEQ - - BROVCA SNP13 PubMed: Oosthuizen 2021 - - - South Africa - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.