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.

128 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     
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup 9900insA - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - VUS g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 27 c.9672dup r.(?) p.(Tyr3225fs) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/. 27 c.9672dup r.(?) p.(fs*) FA FANCD1_00022 Parent #1 - VUS g.32972322dup g.32398185dup - - BRCA2_001164 - PubMed: Howlett 2002 - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 27 c.9672dup r.(?) p.(fs*) FA FANCD1_00022 Parent #2 - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - PubMed: Howlett 2002 - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/+ 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Parent #1 - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Parent #1 - pathogenic g.32972322dup g.32398185dup 9900dupA (3225 Stop 3255) - BRCA2_001164 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Parent #1 - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Parent #1 - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Parent #1 - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Parent #1 - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/. 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - P15-0161 - 1 Arjen Mensenkamp
+/. 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - p15-0087 - 1 Arjen Mensenkamp
+?/. 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Both (homozygous) - likely pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 {CV:126217}; Tea 2014 PubMed: Rump 2016 - rs80359773 Germline ? 1/38 patients - - - DNA SEQ-NG-I DNA isolated from Blood - FANCD1 - PubMed: Rump 2016 - F - - - - - - - 1 Birgit Sikkema-Raddatz
+/+ 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Parent #1 - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Parent #1 - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Parent #1 - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Parent #1 - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Parent #1 - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Parent #1 - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Parent #1 - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Parent #1 - pathogenic (dominant) g.32972322dup g.32398185dup 9672dupA - BRCA2_001164 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Unknown - pathogenic g.32972322dup g.32398185dup c.9672dupA - BRCA2_001164 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Unknown - pathogenic g.32972322dup g.32398185dup c.9672dupA - BRCA2_001164 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Unknown - pathogenic g.32972322dup g.32398185dup c.9672dupA - BRCA2_001164 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Unknown - pathogenic g.32972322dup g.32398185dup c.9672dupA - BRCA2_001164 - - - - Germline - - - - - DNA MIPsm, SEQ-NG - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/. 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Unknown - pathogenic g.32972322dup g.32398185dup c.9672dupA - BRCA2_001164 - - - - Germline - - - - - DNA MIPsm, SEQ-NG - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/. 27A c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Unknown - pathogenic g.32972322dup g.32398185dup 9672dupA - BRCA2_001164 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 27A c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Unknown - pathogenic g.32972322dup g.32398185dup 9672dupA - BRCA2_001164 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 27A c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Unknown - pathogenic g.32972322dup g.32398185dup 9672dupA - BRCA2_001164 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 27A c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Unknown - pathogenic g.32972322dup g.32398185dup 9672dupA - BRCA2_001164 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 27A c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Unknown - pathogenic g.32972322dup g.32398185dup 9672dupA - BRCA2_001164 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Unknown - pathogenic g.32972322dup g.32398185dup c.9672dupA - BRCA2_001164 - - - - Germline - - - - - DNA MIPsm, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rien Blok
+/. 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Unknown - pathogenic g.32972322dup g.32398185dup c.9672dupA - BRCA2_001164 - - - - Germline - - - - - DNA MIPsm, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rien Blok
+/. 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 27 c.9672dup r.(?) p.(Tyr3225Ilefs*30) - Unknown - pathogenic g.32972322dup g.32398185dup - - BRCA2_001164 - - - - Germline - - - - - DNA SEQ - - cancer, ovarian ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
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