Full data view for gene BRCA1

All records describing functional studies of specific variants. BRCA1 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_007294.3 transcript reference sequence.

1430 entries on 15 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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/- 16 c.4837A>G r.(=) p.(Ser1613Gly) - Unknown - benign g.41223094T>C g.43071077T>C - - BRCA1_000338 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs1799966 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/. 16 c.4837A>G r.(?) p.Ser1613Gly - Unknown - NA g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 Transcription activation in human cells; as wildtype control PubMed: Carvalho 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.4837A>G r.(?) p.Ser1613Gly - Unknown - NA g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 evolutionary conservation analysis; predicted deleterious PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.4837A>G r.(?) p.Ser1613Gly - Unknown - NA g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - PubMed: Greenman 1998 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.4837A>G r.(?) p.Ser1613Gly - Unknown - NA g.41223094T>C g.43071077T>C 4956A/G (S1613G) - BRCA1_000338 - PubMed: Ho 2000 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.4837A>G r.(?) p.Ser1613Gly - Unknown - NA g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 Allele frequency analysis in controls; predicted deleterious PubMed: Johnson 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.4837A>G r.(?) p.Ser1613Gly - Unknown - NA g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - PubMed: McKean-Cowdin 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.4837A>G r.(?) p.Ser1613Gly - Unknown - NA g.41223094T>C g.43071077T>C 4956A/G (S1613G) - BRCA1_000338 - PubMed: Miki 1994 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.4837A>G r.(?) p.Ser1613Gly - Unknown - NA g.41223094T>C g.43071077T>C 4956A/G (S1613G) - BRCA1_000338 - PubMed: Phelan 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.4837A>G r.(?) p.Ser1613Gly - Unknown - NA g.41223094T>C g.43071077T>C 4956A/G (S1613G) - BRCA1_000338 - PubMed: Shattuck-Eidens 1997 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 16 c.4837A>G r.(?) p.Ser1613Gly - Unknown - NA g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 Multifactorial likelihood-ratio model; predicted neutral PubMed: Tavtigian 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.4837A>G r.(?) p.Ser1613Gly - Unknown - NA g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 evolutionary conservation analysis; predicted deleterious PubMed: Tommasi 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown kConFab benign g.41223094T>C g.43071077T>C 4956 A>G (S1613G) - BRCA1_000338 - kConFab variant classification: PM - - Germline - 516/1658 - - - DNA SEQ - - cancer, breast - - 516 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 516 kConFab - Heather Thorne
-?/- 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown - likely benign g.41223094T>C g.43071077T>C - - BRCA1_000338 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-?/- 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown - likely benign g.41223094T>C g.43071077T>C - - BRCA1_000338 - - - - Germline - - - - - DNA SEQ-NG - - BROVCA2 - - - - - Argentina - - - - - 1 Roxana Cerretini
-?/- 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown - likely benign g.41223094T>C g.43071077T>C - - BRCA1_000338 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-?/- 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown - likely benign g.41223094T>C g.43071077T>C - - BRCA1_000338 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-?/- 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown - likely benign g.41223094T>C g.43071077T>C - - BRCA1_000338 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - no Argentina European - - - - 1 Roxana Cerretini
-?/- 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown - likely benign g.41223094T>C g.43071077T>C - - BRCA1_000338 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-?/- 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown - likely benign g.41223094T>C g.43071077T>C - - BRCA1_000338 - - - - Germline - - - - - DNA SEQ-NG - - BROVCA2 - - - - no Argentina European - - - - 1 Roxana Cerretini
-?/- 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown - likely benign g.41223094T>C g.43071077T>C - - BRCA1_000338 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - no Argentina European - - - - 1 Roxana Cerretini
-?/- 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown - likely benign g.41223094T>C g.43071077T>C - - BRCA1_000338 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Both (homozygous) - benign g.41223094T>C g.43071077T>C 4956A>G-Ser1613Glu (S1613G) - BRCA1_000338 >100 families homozygous - - - Germline - - - - - DNA SEQ - - cancer, breast - - >200 families (BRCA1/2 screening) - - Greece - - - - - 300 Florentia Fostira
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4837A>G r.(?) p.(Ser1613Gly) - Unknown ENIGMA benign g.41223094T>C g.43071077T>C S1613G - BRCA1_000338 - - - rs1799966 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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