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.

47 entries on 1 page. Showing entries 1 - 47.
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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     
-/- 16i c.4987-92A>G r.(=) p.(=) - Unknown kConFab benign g.41219804T>C g.43067787T>C IVS 16-92 A>G - BRCA1_002696 - kConFab variant classification: PM - - Germline - 6/1658 - - - DNA SEQ - - cancer, breast - - 6 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 6 kConFab - Heather Thorne
-/. 16i c.4987-92A>G r.(?) p.(=) - Parent #1 - benign g.41219804T>C g.43067787T>C IVS16-92G>A - BRCA1_002696 >20 families homozygous - - - Germline - - - - - DNA SEQ - - cancer, breast - - >100 families (BRCA1/2 screening) - - Greece - - - - - 120 Florentia Fostira
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown ENIGMA benign g.41219804T>C g.43067787T>C IVS16-92A>G - BRCA1_002696 - - - rs8176233 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown ENIGMA benign g.41219804T>C g.43067787T>C IVS16-92A>G - BRCA1_002696 - - - rs8176233 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown ENIGMA benign g.41219804T>C g.43067787T>C IVS16-92A>G - BRCA1_002696 - - - rs8176233 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown ENIGMA benign g.41219804T>C g.43067787T>C IVS16-92A>G - BRCA1_002696 - - - rs8176233 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown ENIGMA benign g.41219804T>C g.43067787T>C IVS16-92A>G - BRCA1_002696 - - - rs8176233 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown ENIGMA benign g.41219804T>C g.43067787T>C IVS16-92A>G - BRCA1_002696 - - - rs8176233 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown ENIGMA benign g.41219804T>C g.43067787T>C IVS16-92A>G - BRCA1_002696 - - - rs8176233 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown ENIGMA benign g.41219804T>C g.43067787T>C IVS16-92A>G - BRCA1_002696 - - - rs8176233 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown ENIGMA benign g.41219804T>C g.43067787T>C IVS16-92A>G - BRCA1_002696 - - - rs8176233 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown ENIGMA benign g.41219804T>C g.43067787T>C IVS16-92A>G - BRCA1_002696 - - - rs8176233 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown ENIGMA benign g.41219804T>C g.43067787T>C IVS16-92A>G - BRCA1_002696 - - - rs8176233 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown ENIGMA benign g.41219804T>C g.43067787T>C IVS16-92A>G - BRCA1_002696 - - - rs8176233 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown ENIGMA benign g.41219804T>C g.43067787T>C IVS16-92A>G - BRCA1_002696 - - - rs8176233 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown ENIGMA benign g.41219804T>C g.43067787T>C IVS16-92A>G - BRCA1_002696 - - - rs8176233 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown ENIGMA benign g.41219804T>C g.43067787T>C IVS16-92A>G - BRCA1_002696 - - - rs8176233 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown ENIGMA benign g.41219804T>C g.43067787T>C IVS16-92A>G - BRCA1_002696 - - - rs8176233 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 16i c.4987-92A>G r.(?) p.(=) - Parent #1 - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3322 (Asian), 0.2175 (African), 0.3615 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 - - - rs8176233 Germline - 20/1900 cases - - - DNA SEQ - - cancer, breast BR1489 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 - - - rs8176233 Germline - 20/1900 cases - - - DNA SEQ - - cancer, breast BR1493 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 - - - rs8176233 Germline - 20/1900 cases - - - DNA SEQ - - cancer, breast BR1494 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 - - - rs8176233 Germline - 20/1900 cases - - - DNA SEQ - - cancer, breast BR1498 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 - - - rs8176233 Germline - 20/1900 cases - - - DNA SEQ - - cancer, breast BR1501 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 - - - rs8176233 Germline - 20/1900 cases - - - DNA SEQ - - cancer, breast BR1504 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 - - - rs8176233 Germline - 20/1900 cases - - - DNA SEQ - - cancer, breast BR1506 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 - - - rs8176233 Germline - 20/1900 cases - - - DNA SEQ - - cancer, breast BR1514 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 - - - rs8176233 Germline - 20/1900 cases - - - DNA SEQ - - cancer, breast BR1491 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 - - - rs8176233 Germline - 20/1900 cases - - - DNA SEQ - - cancer, breast BR1492 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 - - - rs8176233 Germline - 20/1900 cases - - - DNA SEQ - - cancer, breast BR1495 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 - - - rs8176233 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1502 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(=) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C BRCA1(NM_007294.3):c.4987-92A>G, BRCA1(NM_007294.4):c.4987-92A>G - BRCA1_002696 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 16i c.4987-92A>G r.(=) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C BRCA1(NM_007294.3):c.4987-92A>G, BRCA1(NM_007294.4):c.4987-92A>G - BRCA1_002696 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 16i c.4987-92A>G r.(=) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C BRCA1(NM_007294.3):c.4987-92A>G, BRCA1(NM_007294.4):c.4987-92A>G - BRCA1_002696 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 - - - rs8176233 Germline - 26/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 - - - rs8176233 Germline - 26/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 - - - rs8176233 Germline - 26/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 - - - rs8176233 Germline - 26/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 - - - rs8176233 Germline - 26/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 - - - rs8176233 Germline - 26/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 - - - rs8176233 Germline - 26/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.4987-92A>G r.(?) p.(=) - Parent #1 - benign g.41219804T>C g.43067787T>C 5106-92A>G, IVS16-92A>G - BRCA1_002696 - PubMed: Bhaskaran 2019 - (refs 14, 20, 22) - rs8176233 Germline - 3/151 cases - - - DNA SEQ - - cancer, breast BRCA1-var470 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 3 Johan den Dunnen
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast - - - - - Argentina Italy - - - - 1 Maximiliano Zeballos
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, ovarian - - - - - Argentina Italy - - - - 1 Maximiliano Zeballos
-/. 16i c.4987-92A>G r.(?) p.(=) - Unknown - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast - - - - - Argentina Italy - - - - 1 Maximiliano Zeballos
-/. 16i c.4987-92A>G r.spl? p.(=) - Unknown - benign g.41219804T>C g.43067787T>C - - BRCA1_002696 - Journal: Gao 2020 as reported in: PubMed: Song 2006, Journal: Song 2006 - - Germline - 1 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Song 2006, Journal: Song 2006 breast/ovarian cancer families/patients - - China - - - - - 1 Xianqi Gao
-/. - c.4987-92A>G r.(=) p.(=) - Unknown - benign g.41219804T>C - BRCA1(NM_007294.3):c.4987-92A>G, BRCA1(NM_007294.4):c.4987-92A>G - BRCA1_002696 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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