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.

179 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.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Peter Devilee
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 11 c.5946del r.(?) p.(Ser1982fs) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/. 11 c.5946del r.(?) p.(fs*) FA FANCD1_00014 Parent #1 - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - PubMed: Offit 2003 - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 11 c.5946del r.(?) p.(fs*) FA FANCD1_00014 Parent #1 - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - PubMed: Offit 2003 - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 11 c.5946del r.(?) p.(fs*) FA FANCD1_00014 Parent #1 - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - PubMed: Offit 2003 - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 11 c.5946del r.(?) p.(fs*) FA FANCD1_00014 Parent #1 - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/+ 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Parent #1 - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/+ 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Parent #1 - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Parent #1 - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Parent #1 - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Parent #1 - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Parent #1 - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Parent #1 - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Parent #1 - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Parent #1 - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Parent #1 - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Parent #1 - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Parent #1 - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Parent #1 - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Parent #1 - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Parent #1 - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Parent #1 - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Parent #1 - pathogenic g.32914438del g.32340301del 6174delT (1982 Stop 2003) - BRCA2_000149 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Kathleen Claes
+/+ 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Parent #1 - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Hans Gille
+/+ 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Parent #1 - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Hans Gille
?/. 11 c.5946del r.(?) p.Ser1982fs - Unknown - NA g.32914438del g.32340301del 6174delT - BRCA2_000149 Cell viability (in BRCA-/- cells); as variant control PubMed: Kuznetsov 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.5946del r.(?) p.Ser1982fs - Unknown - NA g.32914438del g.32340301del 6174delT - BRCA2_000149 Radiation sensitivity; as variant control PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.5946del r.(?) p.Ser1982fs - Unknown - NA g.32914438del g.32340301del 6174delT - BRCA2_000149 Nuclear localisation; as variant control PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.5946del r.(?) p.Ser1982fs - Unknown - NA g.32914438del g.32340301del 6174delT - BRCA2_000149 Centrosome amplification; as variant control PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.5946del r.(?) p.Ser1982fs - Unknown - NA g.32914438del g.32340301del 6174delT - BRCA2_000149 Homology-directed repair assay; as variant control PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.5946del r.(?) p.Ser1982fs - Unknown - NA g.32914438del g.32340301del 6174delT - BRCA2_000149 Survival assay with VC8 (after MMC treatment); as variant control PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.5946del r.(?) p.Ser1982fs - Unknown - NA g.32914438del g.32340301del 6174delT - BRCA2_000149 Co-segregation in families; predicted deleterious PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Unknown kConFab pathogenic g.32914438del g.32340301del BRCA2 6174 del T (STOP 2003) - BRCA2_000149 - kConFab variant classification: P - - Germline - 13/1658 - - - DNA SEQ - - cancer, breast - - 13 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 13 kConFab - Heather Thorne
+/+ 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - PubMed: Bell 2002 - - Germline - - - - - DNA SEQ - - MINAS - PubMed: Bell 2002 - F - (United States) - - - - - 1 James Whitworth
+/. - c.5946del r.(?) p.(Ser1982Argfs*22) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Germline - - - - - DNA SEQ - - MINAS - PubMed: Choi 2006 - F - (United States) - - - - - 1 James Whitworth
+/. - c.5946del r.(?) p.(Ser1982Argfs*22) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Germline - - - - - DNA SEQ - - MINAS - PubMed: Leegte 2005 - F - (United Kingdom (Great Britain)) - - - - - 1 James Whitworth
+/. - c.5946del r.(?) p.(Ser1982Argfs*22) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Germline - - - - - DNA SEQ - - MINAS - PubMed: Leegte 2005 - F - (United Kingdom (Great Britain)) - - - - - 1 James Whitworth
+/. - c.5946del r.(?) p.(Ser1982Argfs*22) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Germline - - - - - DNA HD, PTT, SEQ, SSCA - - MINAS - PubMed: Moslehi 2000 - F - (Canada) - - - - - 1 James Whitworth
+/. - c.5946del r.(?) p.(Ser1982Argfs*22) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Germline - - - - - DNA PTT, SEQ - - MINAS - PubMed: Tesoriero 1999 - F - Australia - - - - - 1 James Whitworth
+/. - c.5946del r.(?) p.(Ser1982Argfs*22) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Germline - - - - - DNA SEQ - - MINAS - PubMed: Friedman 1998 - F - (Israel) - - - - - 1 James Whitworth
+/. - c.5946del r.(?) p.(Ser1982Argfs*22) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Germline - - - - - DNA SEQ - - MINAS - PubMed: Friedman 1998 - F - (Israel) - - - - - 1 James Whitworth
+/. - c.5946del r.(?) p.(Ser1982Argfs*22) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Germline - - - - - DNA SEQ - - MINAS - PubMed: Friedman 1998 - F - (Israel) - - - - - 1 James Whitworth
+/. - c.5946del r.(?) p.(Ser1982Argfs*22) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Germline - - - - - DNA SEQ - - MINAS - PubMed: Friedman 1998 - F - (Israel) - - - - - 1 James Whitworth
+/. - c.5946del r.(?) p.(Ser1982Argfs*22) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Germline - - - - - DNA SEQ - - MINAS - PubMed: Ramus 1997 - F - Hungary - - - - - 1 James Whitworth
+/. - c.5946del r.(?) p.(Ser1982Argfs*22) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Germline - - - - - DNA SEQ - - MINAS - PubMed: Leegte 2005 - F - (United States) - - - - - 1 James Whitworth
+/. - c.5946del r.(?) p.(Ser1982Argfs*22) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Germline - - - - - DNA SEQ - - MINAS - PubMed: Leegte 2005 - F - (United States) - - - - - 1 James Whitworth
+/. - c.5946del r.(?) p.(Ser1982Argfs*22) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Germline - - - - - DNA SEQ - - MINAS - PubMed: Leegte 2005 - F - (United States) - - - - - 1 James Whitworth
+/. - c.5946del r.(?) p.(Ser1982Argfs*22) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Germline - - - - - DNA SEQ - - MINAS - PubMed: Leegte 2005 - F - (United States) - - - - - 1 James Whitworth
+/. - c.5946del r.(?) p.(Ser1982Argfs*22) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Germline - - - - - DNA SEQ - - MINAS - PubMed: Leegte 2005 - F - (United States) - - - - - 1 James Whitworth
+/. - c.5946del r.(?) p.(Ser1982Argfs*22) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Germline - - - - - DNA SEQ - - MINAS - PubMed: Leegte 2005 - F - (United States) - - - - - 1 James Whitworth
+/. - c.5946del r.(?) p.(Ser1982Argfs*22) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Germline - - - - - DNA SEQ - - MINAS - PubMed: Leegte 2005 - F - (United States) - - - - - 1 James Whitworth
+/. - c.5946del r.(?) p.(Ser1982Argfs*22) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Germline - - - - - DNA SEQ - - MINAS - PubMed: Leegte 2005 - F - (United States) - - - - - 1 James Whitworth
+/. - c.5946del r.(?) p.(Ser1982Argfs*22) - Unknown - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Germline - - - - - DNA SEQ, SSCA - - MINAS - PubMed: Randall 1998 - F - (United States) - - - - - 1 James Whitworth
+/. 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Parent #1 - pathogenic g.32914438del g.32340301del - - BRCA2_000149 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 1 family (BRCA1/2 screening) - - Greece - - - - - 1 Florentia Fostira
+/+ 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Parent #1 - pathogenic (dominant) g.32914438del g.32340301del - - BRCA2_000149 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.5946del r.(?) p.(Ser1982Argfs*22) - Unknown - pathogenic g.32914438del g.32340301del 5946delT - BRCA2_000149 - - - rs80359550 Germline - 4/1900 cases - - - DNA SEQ - - cancer, breast BR0339 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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