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.

152 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     
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
-/- 16 c.4956G>A r.(=) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs1799967 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T 4956A>T - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T 4956A>T - BRCA1_000348 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
?/. 16 c.4956G>A r.(?) p.Met1652Ile - Unknown - NA g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 transcription activation/PS/BA/BS; no functional effect PubMed: Lee 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.4956G>A r.(?) p.Met1652Ile - Unknown - NA g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 - PubMed: Arnold 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. 16 c.4956G>A r.(?) p.Met1652Ile - Unknown - NA g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 LOH analysis; loss of variant allele PubMed: Beristain 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 16 c.4956G>A r.(?) p.Met1652Ile - Unknown - NA g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 Transcription activation in human cells; predicted neutral PubMed: Carvalho 2009 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 16 c.4956G>A r.(?) p.Met1652Ile - Unknown - NA g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 Computational analysis; predicted neutral PubMed: Carvalho 2009 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 16 c.4956G>A r.(?) p.Met1652Ile - Unknown - NA g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 Prevalence in normal controls; predicted neutral PubMed: Deffenbaugh 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 16 c.4956G>A r.(?) p.Met1652Ile - Unknown - NA g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 co-occurrence with deleterious variant; predicted neutral PubMed: Deffenbaugh 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.4956G>A r.(?) p.Met1652Ile - Unknown - NA g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 evolutionary conservation analysis; predicted deleterious PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 16 c.4956G>A r.(?) p.Met1652Ile - Unknown - NA g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 Peptide binding ability; as wildtype control PubMed: Glover 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 16 c.4956G>A r.(?) p.Met1652Ile - Unknown - NA g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 Structure-based prediction (crystallography etc); predicted neutral PubMed: Gough 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.4956G>A r.(?) p.Met1652Ile - Unknown - NA g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 - PubMed: Greenman 1998 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 16 c.4956G>A r.(?) p.Met1652Ile - Unknown - NA g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 Structure-based prediction (crystallography etc); predicted neutral PubMed: Mirkovic 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 16 c.4956G>A r.(?) p.Met1652Ile - Unknown - NA g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 Multifactorial likelihood-ratio model; predicted neutral PubMed: Osorio 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.4956G>A r.(?) p.Met1652Ile - Unknown - NA g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 Thermodynamic stability prediction; mildly destabilizing PubMed: Rowling 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.4956G>A r.(?) p.Met1652Ile - Unknown - NA g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 - PubMed: Salazar 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.4956G>A r.(?) p.Met1652Ile - Unknown - NA g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 - PubMed: Spitzer 2000 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 16 c.4956G>A r.(?) p.Met1652Ile - Unknown - NA g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 Multifactorial likelihood-ratio model; predicted neutral PubMed: Tavtigian 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.4956G>A r.(?) p.Met1652Ile - Unknown - NA g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 evolutionary conservation analysis; predicted deleterious PubMed: Tommasi 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 16 c.4956G>A r.(?) p.Met1652Ile - Unknown - NA g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 Proteolytic degradation; as wildtype control PubMed: Williams 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 16 c.4956G>A r.(?) p.Met1652Ile - Unknown - NA g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 Peptide binding ability; as wildtype control PubMed: Williams 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - shared by Quest Diagnostics - rs1799967 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown kConFab likely benign g.41222975C>T g.43070958C>T 5075 G>A (M1652I) - BRCA1_000348 - kConFab variant classification: LCS - - Germline - 37/1658 - - - DNA SEQ - - cancer, breast - - 37 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 37 kConFab - Heather Thorne
?/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - VUS g.41222975C>T g.43070958C>T 5075G>A-Met1652Ile (M1652I) - BRCA1_000348 1 family homozygous - - - Germline - - - - - DNA SEQ - - cancer, breast - - 25 families (BRCA1/2 screening) - - Greece - - - - - 26 Florentia Fostira
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown ENIGMA benign g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 - - - rs1799967 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown ENIGMA benign g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 - - - rs1799967 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown ENIGMA benign g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 - - - rs1799967 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown ENIGMA benign g.41222975C>T g.43070958C>T M1652I - BRCA1_000348 - - - rs1799967 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 16 c.4956G>A r.(?) p.(Met1652Ile) - Parent #1 - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 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 = 0.0000148. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.02243 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR1399 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR0488 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR0541 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR0588 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR0645 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR0662 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR0689 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR0690 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR0723 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR0739 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR0744 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR0756 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR0816 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR0876 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR0879 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR0880 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR0884 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR0955 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR0994 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR0996 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR1131 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR1183 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR1324 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR1387 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR1492 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR2130 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR0716 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR0779 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR0810 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR0852 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR0902 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1117 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR1226 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR1296 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR1487 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 35/1900 cases - - - DNA SEQ - - cancer, breast BR0664 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T - - BRCA1_000348 - - - rs1799967 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0383 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T BRCA1(NM_007294.3):c.4956G>A (p.M1652I, p.(Met1652Ile)), BRCA1(NM_007294.4):c.4956G>A (p.M1652I) - BRCA1_000348 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T BRCA1(NM_007294.3):c.4956G>A (p.M1652I, p.(Met1652Ile)), BRCA1(NM_007294.4):c.4956G>A (p.M1652I) - BRCA1_000348 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 16 c.4956G>A r.(?) p.(Met1652Ile) - Unknown - benign g.41222975C>T g.43070958C>T BRCA1(NM_007294.3):c.4956G>A (p.M1652I, p.(Met1652Ile)), BRCA1(NM_007294.4):c.4956G>A (p.M1652I) - BRCA1_000348 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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