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.

123 entries on 2 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     
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A Gln961Gln - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A Gln961Gln - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Katrien Storm
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A Gln961Gln - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A Glu961Glu - BRCA2_000083 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
-/- 11 c.2883G>A r.(=) p.(=) - Parent #1 - benign g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 11 c.2883G>A r.(=) p.(=) - Parent #1 - benign g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
?/? 11 c.2883G>A r.(=) p.(=) - Parent #1 - VUS g.32911375G>A g.32337238G>A 3111G>A (961 Gln to Gln) - BRCA2_000083 - - - - Unknown - - - - - DNA MCA, MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Kathleen Claes
?/? 11 c.2883G>A r.(=) p.(=) - Parent #1 - VUS g.32911375G>A g.32337238G>A 3111G>A (961 Gln to Gln) - BRCA2_000083 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Kathleen Claes
?/? 11 c.2883G>A r.(=) p.(=) - Parent #1 - VUS g.32911375G>A g.32337238G>A 3111G>A (961 Gln to Gln) - BRCA2_000083 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Kathleen Claes
?/? 11 c.2883G>A r.(=) p.(=) - Parent #1 - VUS g.32911375G>A g.32337238G>A 3111G>A (961 Gln to Gln) - BRCA2_000083 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Kathleen Claes
?/? 11 c.2883G>A r.(=) p.(=) - Parent #1 - VUS g.32911375G>A g.32337238G>A 3111G>A (961 Gln to Gln) - BRCA2_000083 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Kathleen Claes
?/? 11 c.2883G>A r.(=) p.(=) - Parent #1 - VUS g.32911375G>A g.32337238G>A 3111G>A (961 Gln to Gln) - BRCA2_000083 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Kathleen Claes
?/? 11 c.2883G>A r.(=) p.(=) - Parent #1 - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Katrien Storm
?/? 11 c.2883G>A r.(=) p.(=) - Parent #1 - VUS g.32911375G>A g.32337238G>A 3111G/A (961 Gln to Gln) - BRCA2_000083 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 11 c.2883G>A r.(=) p.(=) - Parent #1 - VUS g.32911375G>A g.32337238G>A 3111G/A (961 Gln to Gln) - BRCA2_000083 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 11 c.2883G>A r.(=) p.(=) - Parent #1 - VUS g.32911375G>A g.32337238G>A 3111G/A (961 Gln to Gln) - BRCA2_000083 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 11 c.2883G>A r.(=) p.(=) - Parent #1 - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Hans Gille
?/? 11 c.2883G>A r.(=) p.(=) - Parent #1 - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Hans Gille
?/? 11 c.2883G>A r.(=) p.(=) - Parent #1 - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Hans Gille
?/? 11 c.2883G>A r.(=) p.(=) - Parent #1 - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Hans Gille
?/? 11 c.2883G>A r.(=) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A 3111G/A (961 Gln to Gln) - BRCA2_000083 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/. 11 c.2883G>A r.(?) p.= - Unknown - NA g.32911375G>A g.32337238G>A c.2883G>A - BRCA2_000083 LOH analysis; no LOH PubMed: Beristain 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2883G>A r.(?) p.Gln961Gln - Unknown - NA g.32911375G>A g.32337238G>A 3111G/A (Q961Q) - BRCA2_000083 Prevalence in normal controls; predicted neutral PubMed: Wagner 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2883G>A r.(=) p.(=) - Unknown - benign g.32911375G>A g.32337238G>A - - BRCA2_000083 - shared by Quest Diagnostics - rs11571655 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/. - c.2883G>A r.(=) p.(=) - Parent #1 - benign g.32911375G>A g.32337238G>A - - BRCA2_000083 BIC: UV; frequency up to 2%- homozygous; BIC prob. Poly, Alamut benign - - - Germline - frequency up to 2%- - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/? 11 c.2883G>A r.(=) p.(=) - Unknown kConFab likely pathogenic g.32911375G>A g.32337238G>A BRCA2 3111G>A (Q961Q) - BRCA2_000083 - kConFab variant classification: SV - - Germline - 5/1658 - - - DNA SEQ - - cancer, breast - - 5 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 5 kConFab - Heather Thorne
?/. 11 c.2883G>A r.(=) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown - - - - - DNA SEQ-NG - - cancer, breast - - - - - - - - - - - 1 Katrien Storm
-/. 11 c.2883G>A r.(=) p.(=) - Unknown - benign g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Germline - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium white - - - - 1 Kathleen Claes
?/. 11 c.2883G>A r.(=) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Germline - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium white - - - - 1 Kathleen Claes
?/. 11 c.2883G>A r.(=) p.(=) - Parent #1 - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown - - - - - DNA SEQ - - cancer, ovarian - - - - - Netherlands - - - - - 1 Rien Blok
?/. 11 c.2883G>A r.(=) p.(=) - Parent #1 - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
-/. 11 c.2883G>A r.(?) p.(Gln961=) - Unknown - benign g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - rs11571655 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0383 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.2883G>A r.(?) p.(Gln961=) - Unknown - benign g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - rs11571655 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0434 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Germline - - - - - DNA MIPsm, SEQ-NG - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
?/. 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Germline - - - - - DNA MIPsm, SEQ-NG - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
?/. 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Germline - - - - - DNA MIPsm, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rien Blok
?/. 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Germline - - - - - DNA MIPsm, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rien Blok
?/. 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 11 c.2883G>A r.(?) p.(=) - Unknown - VUS g.32911375G>A g.32337238G>A - - BRCA2_000083 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
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