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.

403 entries on 5 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.2077G>A r.(=) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs4986850 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
?/. 11 c.2077G>A r.(?) p.Asp693Asn - Unknown - NA g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - PubMed: Belogianni 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2077G>A r.(?) p.Asp693Asn - Unknown - NA g.41245471C>T g.43093454C>T D693N - BRCA1_000182 evolutionary conservation analysis; predicted neutral PubMed: Greenman 1998 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.2077G>A r.(?) p.Asp693Asn - Unknown - NA g.41245471C>T g.43093454C>T D693N - BRCA1_000182 Allele frequency analysis in controls; predicted deleterious PubMed: Johnson 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.2077G>A r.(?) p.Asp693Asn - Unknown - NA g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - PubMed: McKean-Cowdin 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.2077G>A r.(?) p.Asp693Gln - Unknown - NA g.41245471C>T g.43093454C>T 2196G/A (D693N) - BRCA1_000182 - PubMed: Shattuck-Eidens 1997 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2077G>A r.(?) p.Asp693Asn - Unknown - NA g.41245471C>T g.43093454C>T D693N - BRCA1_000182 Multifactorial likelihood-ratio model; predicted neutral PubMed: Tavtigian 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.2077G>A r.(?) p.Asp693Asn - Unknown - NA g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - PubMed: Tommasi 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - shared by Quest Diagnostics - rs4986850 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown kConFab benign g.41245471C>T g.43093454C>T 2196 G>A (D693N) - BRCA1_000182 - kConFab variant classification: PM - - Germline - 136/1658 - - - DNA SEQ - - cancer, breast - - 136 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 136 kConFab - Heather Thorne
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina mestizos - - - - 1 Roxana Cerretini
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - relative of Pat43a/b/d/e - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - - Germline - - - - - DNA SEQ-NG - - BROVCA2 - - - - no Argentina European - - - - 1 Roxana Cerretini
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Both (homozygous) - benign g.41245471C>T g.43093454C>T 2196G>A-Asp693Asn (D693N) - BRCA1_000182 3 families homozygous - - - Germline - - - - - DNA SEQ - - cancer, breast - - >30 families (BRCA1/2 screening) - - Greece - - - - - 33 Florentia Fostira
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown ENIGMA benign g.41245471C>T g.43093454C>T D693N - BRCA1_000182 - - - rs4986850 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Parent #1 - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 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 0.01016 (African), 0.08443 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR0591 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR1487 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR1509 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR1531 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR1543 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR1545 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR1546 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR0332 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR0335 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0339 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0341 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR0348 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR0358 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR0362 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR0374 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR0386 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR0394 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR0396 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR0420 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR0440 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR0442 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR0450 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR0453 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR0455 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR0457 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0465 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) - Unknown - benign g.41245471C>T g.43093454C>T - - BRCA1_000182 - - - rs4986850 Germline - 215/1900 cases - - - DNA SEQ - - cancer, breast BR0467 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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