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.

169 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.3119G>A r.(=) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs4986852 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
?/. 11 c.3119G>A r.(?) p.Ser1040Asn - Unknown - NA g.41244429C>T g.43092412C>T 3238G/A (S1040N) - BRCA1_000233 - PubMed: Arnold 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.3119G>A r.(?) p.Ser1040Asn - Unknown - NA g.41244429C>T g.43092412C>T S1040N - BRCA1_000233 - PubMed: Bergthorsson 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.3119G>A r.(?) p.Ser1040Asn - Unknown - NA g.41244429C>T g.43092412C>T S1040N - BRCA1_000233 evolutionary conservation analysis; predicted neutral PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.3119G>A r.(?) p.Ser1040Asn - Unknown - NA g.41244429C>T g.43092412C>T S1040N - BRCA1_000233 - PubMed: Greenman 1998 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.3119G>A r.(?) p.Ser1040Asn - Unknown - NA g.41244429C>T g.43092412C>T S1040N - BRCA1_000233 - PubMed: McKean-Cowdin 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.3119G>A r.(?) p.Ser1040Asn - Unknown - NA g.41244429C>T g.43092412C>T 3238G/A (S1040N) - BRCA1_000233 - PubMed: Shattuck-Eidens 1997 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.3119G>A r.(?) p.Ser1040Asn - Unknown - NA g.41244429C>T g.43092412C>T S1040N - BRCA1_000233 - PubMed: Spitzer 2000 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.3119G>A r.(?) p.Ser1040Asn - Unknown - NA g.41244429C>T g.43092412C>T S1040N - BRCA1_000233 Multifactorial likelihood-ratio model; predicted neutral PubMed: Tavtigian 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - shared by Quest Diagnostics - rs4986852 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown kConFab benign g.41244429C>T g.43092412C>T 3238 G>A (S1040N) - BRCA1_000233 - kConFab variant classification: PM - - Germline - 52/1658 - - - DNA SEQ - - cancer, breast - - 52 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 52 kConFab - Heather Thorne
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - - Germline - - - - - DNA SEQ-NG - - BROVCA2 - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - - Germline - - - - - DNA SEQ-NG - - BROVCA2 - - - - no Argentina European - - - - 1 Roxana Cerretini
?/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Parent #1 - VUS g.41244429C>T g.43092412C>T 3238G>A-Ser1040Asn (S1040N) - BRCA1_000233 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - >20 families (BRCA1/2 screening) - - Greece - - - - - 20 Florentia Fostira
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown ENIGMA benign g.41244429C>T g.43092412C>T S1040N - BRCA1_000233 - - - rs4986852 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown ENIGMA benign g.41244429C>T g.43092412C>T S1040N - BRCA1_000233 - - - rs4986852 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown ENIGMA benign g.41244429C>T g.43092412C>T S1040N - BRCA1_000233 - - - rs4986852 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown ENIGMA benign g.41244429C>T g.43092412C>T S1040N - BRCA1_000233 - - - rs4986852 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown ENIGMA benign g.41244429C>T g.43092412C>T S1040N - BRCA1_000233 - - - rs4986852 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown ENIGMA benign g.41244429C>T g.43092412C>T S1040N - BRCA1_000233 - - - rs4986852 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown ENIGMA benign g.41244429C>T g.43092412C>T S1040N - BRCA1_000233 - - - rs4986852 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown ENIGMA benign g.41244429C>T g.43092412C>T S1040N - BRCA1_000233 - - - rs4986852 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown ENIGMA benign g.41244429C>T g.43092412C>T S1040N - BRCA1_000233 - - - rs4986852 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown ENIGMA benign g.41244429C>T g.43092412C>T S1040N - BRCA1_000233 - - - rs4986852 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown ENIGMA benign g.41244429C>T g.43092412C>T S1040N - BRCA1_000233 - - - rs4986852 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown ENIGMA benign g.41244429C>T g.43092412C>T S1040N - BRCA1_000233 - - - rs4986852 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown ENIGMA benign g.41244429C>T g.43092412C>T S1040N - BRCA1_000233 - - - rs4986852 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown ENIGMA benign g.41244429C>T g.43092412C>T S1040N - BRCA1_000233 - - - rs4986852 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown ENIGMA benign g.41244429C>T g.43092412C>T S1040N - BRCA1_000233 - - - rs4986852 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown ENIGMA benign g.41244429C>T g.43092412C>T S1040N - BRCA1_000233 - - - rs4986852 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown ENIGMA benign g.41244429C>T g.43092412C>T S1040N - BRCA1_000233 - - - rs4986852 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Parent #1 - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon 2008 (PMID:18951446). Class 1 based on posterior probability = 0.00000000000204. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.02111 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR1343 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1350 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR1557 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0375 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0393 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0405 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0477 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0538 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0555 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0559 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0568 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0585 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0623 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0638 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0652 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0682 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0707 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0805 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0889 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0890 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0898 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0967 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0969 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR1049 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR1084 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR1090 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR1162 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR1201 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1245 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR1318 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR1327 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR1357 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR1390 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR1421 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR1434 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR1490 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR1512 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR2059 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR2127 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0347 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0377 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR1077 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR1098 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR1274 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR1397 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR2034 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR2054 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR2126 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR2139 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0625 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0372 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0382 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0411 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0491 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0492 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0505 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0686 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0713 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0730 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0853 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0887 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR0997 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR1022 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR1046 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3119G>A r.(?) p.(Ser1040Asn) - Unknown - benign g.41244429C>T g.43092412C>T - - BRCA1_000233 - - - rs4986852 Germline - 86/1900 cases - - - DNA SEQ - - cancer, breast BR1149 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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