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.

117 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.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G 10462A>G - BRCA2_000485 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - VUS g.32972884A>G g.32398747A>G 10462A>G - BRCA2_000485 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/- 27 c.10234A>G r.(=) p.(Ile3412Val) - Unknown - VUS g.32972884A>G g.32398747A>G - - BRCA2_000485 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs1801426 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Parent #1 - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Parent #1 - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Parent #1 - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
?/. 27 c.10234A>G r.(?) p.Ile3412Val - Unknown - NA g.32972884A>G g.32398747A>G I3412V - BRCA2_000485 - PubMed: Bergthorsson 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 27 c.10234A>G r.(?) p.Ile3412Val - Unknown - NA g.32972884A>G g.32398747A>G I3412V - BRCA2_000485 - PubMed: Freedman 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 27 c.10234A>G r.(?) p.Ile3412Val - Unknown - NA g.32972884A>G g.32398747A>G I3412V - BRCA2_000485 - PubMed: Johnson 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 27 c.10234A>G r.(?) p.Ile3412Val - Unknown - NA g.32972884A>G g.32398747A>G I3412V - BRCA2_000485 Prevalence in normal controls; predicted neutral PubMed: Wagner 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - shared by Quest Diagnostics - - Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- - c.10234A>G r.(?) p.(Ile3412Val) - Parent #1 - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown kConFab benign g.32972884A>G g.32398747A>G BRCA2 10462 A>G (I3412V) - BRCA2_000485 - kConFab variant classification: PM - - Germline - 4/1658 - - - DNA SEQ - - cancer, breast - - 4 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 4 kConFab - Heather Thorne
?/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Parent #1 - VUS g.32972884A>G g.32398747A>G 10462A>G-Ile3412Val (I3412V) - BRCA2_000485 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 3 families (BRCA1/2 screening) - - Greece - - - - - 3 Florentia Fostira
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown ENIGMA benign g.32972884A>G g.32398747A>G I3412V - BRCA2_000485 - - - rs1801426 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown ENIGMA benign g.32972884A>G g.32398747A>G I3412V - BRCA2_000485 - - - rs1801426 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown ENIGMA benign g.32972884A>G g.32398747A>G I3412V - BRCA2_000485 - - - rs1801426 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown ENIGMA benign g.32972884A>G g.32398747A>G I3412V - BRCA2_000485 - - - rs1801426 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown ENIGMA benign g.32972884A>G g.32398747A>G I3412V - BRCA2_000485 - - - rs1801426 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown ENIGMA benign g.32972884A>G g.32398747A>G I3412V - BRCA2_000485 - - - rs1801426 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown ENIGMA benign g.32972884A>G g.32398747A>G I3412V - BRCA2_000485 - - - rs1801426 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Parent #1 - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02972 (Asian), 0.126 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1455 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR0458 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR0689 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1106 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR0757 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR0949 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR0867 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR0992 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR0660 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1196 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1376 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR0857 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1284 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR0789 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR0792 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1306 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0600 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR0791 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1282 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1507 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1544 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0878 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1112 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1456 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR0426 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR2036 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR0510 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR0959 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1363 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1440 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR0453 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR0972 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR0743 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1199 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- - c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G BRCA2(NM_000059.3):c.10234A>G (p.I3412V, p.(Ile3412Val)), BRCA2(NM_000059.4):c.10234A>G (p.I3412V) - BRCA2_000485 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G BRCA2(NM_000059.3):c.10234A>G (p.I3412V, p.(Ile3412Val)), BRCA2(NM_000059.4):c.10234A>G (p.I3412V) - BRCA2_000485 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G BRCA2(NM_000059.3):c.10234A>G (p.I3412V, p.(Ile3412Val)), BRCA2(NM_000059.4):c.10234A>G (p.I3412V) - BRCA2_000485 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G BRCA2(NM_000059.3):c.10234A>G (p.I3412V, p.(Ile3412Val)), BRCA2(NM_000059.4):c.10234A>G (p.I3412V) - BRCA2_000485 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G BRCA2(NM_000059.3):c.10234A>G (p.I3412V, p.(Ile3412Val)), BRCA2(NM_000059.4):c.10234A>G (p.I3412V) - BRCA2_000485 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 45/2300 cases - - - DNA SEQ - - cancer, breast BR0993 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 45/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 45/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 45/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 45/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 45/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 45/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 45/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - 45/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Parent #1 - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1801426 Germline - 244/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 244 Yukihide Momozawa
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Parent #1 - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1801426 Germline - 369/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 369 Yukihide Momozawa
-/. - c.10234A>G r.(?) p.(Ile3412Val) - Both (homozygous) - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1801426 Germline - 1/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 1 Yukihide Momozawa
-/. - c.10234A>G r.(?) p.(Ile3412Val) - Both (homozygous) - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1801426 Germline - 6/11241 controls - - - DNA SEQ - - Healthy/Control -con-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 6 Yukihide Momozawa
-/. - c.10234A>G r.(?) p.(Ile3412Val) - Parent #1 - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1801426 Germline - 3/53 cases - - - DNA SEQ - - cancer, breast -cases-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 53 male breast cancer cases M - Japan - - - - - 3 Yukihide Momozawa
-/. - c.10234A>G r.(?) p.(Ile3412Val) - Both (homozygous) - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1801426 Germline - 8/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 8 Yukihide Momozawa
-/. - c.10234A>G r.(?) p.(Ile3412Val) - Parent #1 - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1801426 Germline - 487/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 487 Yukihide Momozawa
?/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - VUS g.32972884A>G g.32398747A>G - - BRCA2_000485 - PubMed: Stegel 2011 - - Germline - 1/208 cases - - - DNA SEQ - - BROVCA - PubMed: Stegel 2011 cases F - Slovenia - - - - - 1 Johan den Dunnen
-?/. - c.10234A>G r.(?) p.(Ile3412Val) - Parent #1 - likely benign g.32972884A>G g.32398747A>G 10234A>G - BRCA2_000485 - PubMed: Bhaskaran 2019 - (refs 69) - rs1801426 Germline - 1/214 cases - - - DNA SEQ, MLPA - - cancer, breast BRCA1-var530 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 1 Johan den Dunnen
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - rs1801426 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G BRCA2(NM_000059.3):c.10234A>G (p.I3412V, p.(Ile3412Val)), BRCA2(NM_000059.4):c.10234A>G (p.I3412V) - BRCA2_000485 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast - - - - - Argentina Spain - - - - 1 Maximiliano Zeballos
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - Journal: Gao 2020 as reported in: PubMed: Li 1999, Journal: Li 1999, PubMed: Zhi 2002, Journal: Zhi 2002, PubMed: Suter 2004, Journal: Suter 2004, PubMed: Kwong 2016, Journal: Kwong 2016, Song Chen 2015, Zhang Li 2014, Yongtao Li 2014, Yongtao Li 2014 - - Germline - 19 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Li 1999, Journal: Li 1999, PubMed: Zhi 2002, Journal: Zhi 2002, PubMed: Suter 2004, Journal: Suter 2004, PubMed: Kwong 2016, Journal: Kwong 2016, Song Chen 2015, Zhang Li 2014, Yongtao Li 2014, Yongtao Li 2014 breast/ovarian cancer families/patients - - China - - - - - 19 Xianqi Gao
-/. - c.10234A>G r.(?) p.(Ile3412Val) - Parent #1 - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 48 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1801426 Germline - 48/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 48 Mohammed Faruq
-/. - c.10234A>G r.(?) p.(Ile3412Val) - Both (homozygous) - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1801426 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-/. - c.10234A>G r.(?) p.(Ile3412Val) - Parent #1 - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - PubMed: Dong 2021 - rs1801426 Germline - 754/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 637F/136M F;M - China - - - - - 754 Johan den Dunnen
-/. - c.10234A>G r.(?) p.(Ile3412Val) - Both (homozygous) - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - PubMed: Dong 2021 - rs1801426 Germline - 19/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 637F/136M F;M - China - - - - - 19 Johan den Dunnen
-/. - c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G - BRCA2(NM_000059.3):c.10234A>G (p.I3412V, p.(Ile3412Val)), BRCA2(NM_000059.4):c.10234A>G (p.I3412V) - BRCA2_000485 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - PubMed: Oosthuizen 2021 - rs1801426 Germline - 0.06 - - - DNA SEQ - - BROVCA SNP36 PubMed: Oosthuizen 2021 - - - South Africa - - - - - 1 Johan den Dunnen
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - Nodo Argentina Varioma, unpublished - rs1801426 Germline - - - - - DNA SEQ - - BROVCA BR2961 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - Nodo Argentina Varioma, unpublished - rs1801426 Germline - - - - - DNA SEQ - - BROVCA BR2991 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - Nodo Argentina Varioma, unpublished - rs1801426 Germline - - - - - DNA SEQ - - BROVCA BR3016 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10234A>G r.(?) p.(Ile3412Val) - Unknown - benign g.32972884A>G g.32398747A>G - - BRCA2_000485 - Nodo Argentina Varioma, unpublished - rs1801426 Germline - - - - - DNA SEQ - - BROVCA BR3067 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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