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.

62 entries on 1 page. Showing entries 1 - 62.
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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     
-/- 18i c.5152+66G>A r.(=) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs3092994 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
?/. 18i c.5152+66G>A r.(?) ? - Unknown - NA g.41215825C>T g.43063808C>T IVS18+66G/A - BRCA1_000403 - PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18i c.5152+66G>A r.(?) ? - Unknown - NA g.41215825C>T g.43063808C>T IVS18+66G/A - BRCA1_000403 - PubMed: Ho 2000 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 18i c.5152+66G>A r.(=) p.(=) - Unknown kConFab benign g.41215825C>T g.43063808C>T IVS 18+66 G>A - BRCA1_000403 - kConFab variant classification: PM - - Germline - 136/1658 - - - DNA SEQ - - cancer, breast - - 136 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 136 kConFab - Heather Thorne
-/. 18i c.5152+66G>A r.(?) p.(=) - Both (homozygous) - benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 >100 families homozygous - - - Germline - - - - - DNA SEQ - - cancer, breast - - >200 families (BRCA1/2 screening) - - Greece - - - - - 300 Florentia Fostira
-/- 18i c.5152+66G>A r.(?) p.(=) - Unknown ENIGMA benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 - - - rs3092994 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 18i c.5152+66G>A r.(?) p.(=) - Unknown ENIGMA benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 - - - rs3092994 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 18i c.5152+66G>A r.(?) p.(=) - Unknown ENIGMA benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 - - - rs3092994 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 18i c.5152+66G>A r.(?) p.(=) - Unknown ENIGMA benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 - - - rs3092994 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 18i c.5152+66G>A r.(?) p.(=) - Unknown ENIGMA benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 - - - rs3092994 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 18i c.5152+66G>A r.(?) p.(=) - Unknown ENIGMA benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 - - - rs3092994 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 18i c.5152+66G>A r.(?) p.(=) - Unknown ENIGMA benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 - - - rs3092994 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 18i c.5152+66G>A r.(?) p.(=) - Unknown ENIGMA benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 - - - rs3092994 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 18i c.5152+66G>A r.(?) p.(=) - Unknown ENIGMA benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 - - - rs3092994 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 18i c.5152+66G>A r.(?) p.(=) - Unknown ENIGMA benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 - - - rs3092994 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 18i c.5152+66G>A r.(?) p.(=) - Unknown ENIGMA benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 - - - rs3092994 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 18i c.5152+66G>A r.(?) p.(=) - Unknown ENIGMA benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 - - - rs3092994 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 18i c.5152+66G>A r.(?) p.(=) - Unknown ENIGMA benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 - - - rs3092994 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 18i c.5152+66G>A r.(?) p.(=) - Unknown ENIGMA benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 - - - rs3092994 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 18i c.5152+66G>A r.(?) p.(=) - Unknown ENIGMA benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 - - - rs3092994 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 18i c.5152+66G>A r.(?) p.(=) - Unknown ENIGMA benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 - - - rs3092994 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 18i c.5152+66G>A r.(?) p.(=) - Unknown ENIGMA benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 - - - rs3092994 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 18i c.5152+66G>A r.(?) p.(=) - Unknown ENIGMA benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 - - - rs3092994 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 18i c.5152+66G>A r.(?) p.(=) - Unknown ENIGMA benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 - - - rs3092994 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 18i c.5152+66G>A r.(?) p.(=) - Unknown ENIGMA benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 - - - rs3092994 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 18i c.5152+66G>A r.(?) p.(=) - Unknown ENIGMA benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 - - - rs3092994 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 18i c.5152+66G>A r.(?) p.(=) - Unknown ENIGMA benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 - - - rs3092994 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 18i c.5152+66G>A r.(?) p.(=) - Unknown ENIGMA benign g.41215825C>T g.43063808C>T IVS18+66G>A - BRCA1_000403 - - - rs3092994 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 18i c.5152+66G>A r.(?) p.(=) - Parent #1 - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.2154 (African), 0.3615 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1497 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1538 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1542 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1558 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1526 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1546 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1484 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1499 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1500 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1503 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1515 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR0594 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1487 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1489 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1493 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1494 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1498 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1501 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1504 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1506 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1514 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1491 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1492 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1495 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1502 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(?) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - - - rs3092994 Germline - 37/1900 cases - - - DNA SEQ - - cancer, breast BR1536 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18i c.5152+66G>A r.(=) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T BRCA1(NM_007294.3):c.5152+66G>A, BRCA1(NM_007294.4):c.5152+66G>A - BRCA1_000403 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 18i c.5152+66G>A r.(=) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T BRCA1(NM_007294.3):c.5152+66G>A, BRCA1(NM_007294.4):c.5152+66G>A - BRCA1_000403 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 18i c.5152+66G>A r.(=) p.(=) - Unknown - benign g.41215825C>T g.43063808C>T BRCA1(NM_007294.3):c.5152+66G>A, BRCA1(NM_007294.4):c.5152+66G>A - BRCA1_000403 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5152+66G>A r.(?) p.(=) - Parent #1 - benign g.41215825C>T g.43063808C>T 5272+66 (G→A), 5215+66G>A - BRCA1_000403 - PubMed: Bhaskaran 2019 - (refs 2, 14, 61, 73) - rs3092994 Germline - 22/308 cases - - - DNA SEQ - - cancer, breast BRCA1-var493 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 22 Johan den Dunnen
-/. 18i c.5152+66G>A r.spl? p.(=) - Unknown - benign g.41215825C>T g.43063808C>T - - BRCA1_000403 - Journal: Gao 2020 as reported in: PubMed: Song 2006, Journal: Song 2006, PubMed: Kuo 2012, Journal: Kuo 2012, PubMed: Cao 2013, Journal: Cao 2013 - - Germline - 22 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Song 2006, Journal: Song 2006, PubMed: Kuo 2012, Journal: Kuo 2012, PubMed: Cao 2013, Journal: Cao 2013 breast/ovarian cancer families/patients - - China - - - - - 22 Xianqi Gao
-/. - c.5152+66G>A r.(=) p.(=) - Unknown - benign g.41215825C>T - BRCA1(NM_007294.3):c.5152+66G>A, BRCA1(NM_007294.4):c.5152+66G>A - BRCA1_000403 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5152+66G>A r.(=) p.(=) - Unknown - benign g.41215825C>T - BRCA1(NM_007294.3):c.5152+66G>A, BRCA1(NM_007294.4):c.5152+66G>A - BRCA1_000403 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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