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.

274 entries on 3 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.2971A>G r.(=) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs1799944 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
?/. 11 c.2971A>G r.(?) p.Asn991Asp - Unknown - NA g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2971A>G r.(?) p.Asn991Asp - Unknown - NA g.32911463A>G g.32337326A>G 3199A/G (N991D) - BRCA2_000085 Allele frequency analysis in controls; predicted neutral PubMed: Freedman 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.2971A>G r.(?) p.Asn991Asp - Unknown - NA g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - PubMed: Hadjisavvas 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2971A>G r.(?) p.Asn991Asp - Unknown - NA g.32911463A>G g.32337326A>G N991D - BRCA2_000085 Cell viability (in BRCA-/- cells); as wildtype control PubMed: Kuznetsov 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.2971A>G r.(?) p.Asn991Asp - Unknown - NA g.32911463A>G g.32337326A>G N991D - BRCA2_000085 Grantham score; predicted deleterious PubMed: Tommasi 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2971A>G r.(?) p.Asn991Asp - Unknown - NA g.32911463A>G g.32337326A>G 3199A/G (N991D) - BRCA2_000085 Prevalence in normal controls; predicted neutral PubMed: Wagner 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown kConFab benign g.32911463A>G g.32337326A>G BRCA2 3199 A>G (N991D) - BRCA2_000085 - kConFab variant classification: PM - - Germline - 67/1658 - - - DNA SEQ - - cancer, breast - - 67 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 67 kConFab - Heather Thorne
-?/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - likely benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - no Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Both (homozygous) - benign g.32911463A>G g.32337326A>G 3199A>G-Asn991Asp (N991D) - BRCA2_000085 1 family homozygous - - - Germline - - - - - DNA SEQ - - cancer, breast - - >30 families (BRCA1/2 screening) - - Greece - - - - - 30 Florentia Fostira
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown ENIGMA benign g.32911463A>G g.32337326A>G N991D - BRCA2_000085 - - - rs1799944 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Parent #1 - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.1049 (Asian), 0.03049 (African), 0.03694 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR1200 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR1016 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR1486 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR1487 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR1519 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0375 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0377 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0381 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR0635 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0840 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0921 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1079 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR1308 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR1346 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR1369 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR1374 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR1381 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR1473 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR1483 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR2050 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR2126 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0390 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0412 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0440 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0536 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0620 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0738 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0819 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0856 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0915 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0972 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR1064 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR1155 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR1199 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR1234 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR1425 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR2040 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR2142 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0400 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0406 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0424 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0545 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0626 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR0673 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0754 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0775 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0811 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0817 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0818 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0864 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0890 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0893 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0898 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR0984 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR1021 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR1032 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR1041 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2971A>G r.(?) p.(Asn991Asp) - Unknown - benign g.32911463A>G g.32337326A>G - - BRCA2_000085 - - - rs1799944 Germline - 130/1900 cases - - - DNA SEQ - - cancer, breast BR1044 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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