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.

26 entries on 1 page. Showing entries 1 - 26.
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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)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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-/- 2i c.81-14C>T r.(=) p.(=) - Unknown - benign g.41267810G>A g.43115793G>A - - BRCA1_000021 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs80358006 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-?/. 2i c.81-14C>T r.= ? - Unknown - NA g.41267810G>A g.43115793G>A 200-14C>T - BRCA1_000021 Splicing reporter minigene; predicted neutral PubMed: Steffensen 2014 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2i c.81-14C>T r.(=) ? - Unknown - NA g.41267810G>A g.43115793G>A IVS2-14C>T - BRCA1_000021 LOH analysis; loss of variant allele PubMed: Beristain 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 2i c.81-14C>T r.= p.? - Unknown - NA g.41267810G>A g.43115793G>A IVS2-14C>T - BRCA1_000021 mRNA analysis (RT-PCR); as wildtype control PubMed: Claes 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 2i c.81-14C>T r.(?) ? - Unknown - NA g.41267810G>A g.43115793G>A IVS2-14C>T - BRCA1_000021 - PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 2i c.81-14C>T r.(=) ? - Unknown - NA g.41267810G>A g.43115793G>A IVS2-14C>T - BRCA1_000021 co-occurrence with deleterious variant; predicted neutral PubMed: Judkins 2005a - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 2i c.81-14C>T r.(=) ? - Unknown - NA g.41267810G>A g.43115793G>A IVS2-14C>T - BRCA1_000021 Histopathology; predicted neutral PubMed: Spearman 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 2i c.81-14C>T r.= NA - Unknown - NA g.41267810G>A g.43115793G>A c.81-14 C>T - BRCA1_000021 splicing reporter minigene/patient RNA analysis; no splicing defect PubMed: Théry 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 2i c.81-14C>T r.(=) p.(=) - Unknown - benign g.41267810G>A g.43115793G>A - - BRCA1_000021 - shared by Quest Diagnostics - rs80358006 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 2i c.81-14C>T r.(=) p.(=) - Unknown kConFab benign g.41267810G>A g.43115793G>A IVS 2-14 C>T - BRCA1_000021 - kConFab variant classification: PM - - Germline - 2/1658 - - - DNA SEQ - - cancer, breast - - 2 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 2 kConFab - Heather Thorne
-/- 2i c.81-14C>T r.(?) p.(=) - Unknown ENIGMA benign g.41267810G>A g.43115793G>A IVS2-14C>T - BRCA1_000021 - - - rs80358006 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2i c.81-14C>T r.(?) p.(=) - Unknown - benign g.41267810G>A g.43115793G>A - - BRCA1_000021 - - - rs80358006 Germline - 4/1900 cases - - - DNA SEQ - - cancer, breast BR2091 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2i c.81-14C>T r.(?) p.(=) - Unknown - benign g.41267810G>A g.43115793G>A - - BRCA1_000021 - - - rs80358006 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0384 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2i c.81-14C>T r.(?) p.(=) - Unknown - benign g.41267810G>A g.43115793G>A - - BRCA1_000021 - - - rs80358006 Germline - 4/1900 cases - - - DNA SEQ - - cancer, breast BR0716 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2i c.81-14C>T r.(?) p.(=) - Unknown - benign g.41267810G>A g.43115793G>A - - BRCA1_000021 - - - rs80358006 Germline - 4/1900 cases - - - DNA SEQ - - cancer, breast BR0779 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2i c.81-14C>T r.(=) p.(=) - Unknown - benign g.41267810G>A g.43115793G>A BRCA1(NM_007294.3):c.81-14C>T (p.(=)), BRCA1(NM_007294.4):c.81-14C>T, BRCA1(NM_007297.4):c.-8+8224C>T - BRCA1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2i c.81-14C>T r.(=) p.(=) - Unknown - benign g.41267810G>A g.43115793G>A BRCA1(NM_007294.3):c.81-14C>T (p.(=)), BRCA1(NM_007294.4):c.81-14C>T, BRCA1(NM_007297.4):c.-8+8224C>T - BRCA1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2i c.81-14C>T r.(=) p.(=) - Unknown - likely benign g.41267810G>A g.43115793G>A BRCA1(NM_007294.3):c.81-14C>T (p.(=)), BRCA1(NM_007294.4):c.81-14C>T, BRCA1(NM_007297.4):c.-8+8224C>T - BRCA1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2i c.81-14C>T r.(?) p.(=) - Unknown - benign g.41267810G>A g.43115793G>A - - BRCA1_000021 - - - rs80358006 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2i c.81-14C>T r.(?) p.(=) - Unknown - benign g.41267810G>A g.43115793G>A - - BRCA1_000021 - - - rs80358006 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-?/. - c.81-14C>T r.(=) p.(=) - Unknown - likely benign g.41267810G>A g.43115793G>A BRCA1(NM_007294.3):c.81-14C>T (p.(=)), BRCA1(NM_007294.4):c.81-14C>T, BRCA1(NM_007297.4):c.-8+8224C>T - BRCA1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.81-14C>T r.(?) p.(=) - Parent #1 - VUS g.41267810G>A g.43115793G>A - - BRCA1_000021 classified as class 1, 2, 3, 4 or 5 in 6/25800 full screen tests: PHE release 2 BRCA germline variants (June 19, 2019). Entry from British diagnostic laboratories uploaded via Public Health England. Where benign/likely benign variants were excluded. Currently variants are classified as either "3, 4 or 5" or "1, 2, 3, 4 or 5". UK Variant Sharing Initiative - - CLASSIFICATION record - 6 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 6 UK Variant Sharing Initiative
-/. - c.81-14C>T r.(=) p.(=) - Unknown - benign g.41267810G>A - BRCA1(NM_007294.3):c.81-14C>T (p.(=)), BRCA1(NM_007294.4):c.81-14C>T, BRCA1(NM_007297.4):c.-8+8224C>T - BRCA1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.81-14C>T r.(=) p.(=) - Unknown - benign g.41267810G>A - BRCA1(NM_007294.3):c.81-14C>T (p.(=)), BRCA1(NM_007294.4):c.81-14C>T, BRCA1(NM_007297.4):c.-8+8224C>T - BRCA1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.81-14C>T r.(=) p.(=) - Unknown - benign g.41267810G>A - BRCA1(NM_007294.3):c.81-14C>T (p.(=)), BRCA1(NM_007294.4):c.81-14C>T, BRCA1(NM_007297.4):c.-8+8224C>T - BRCA1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2i c.81-14C>T r.(?) p.(=) - Unknown - benign g.41267810G>A g.43115793G>A - - BRCA1_000021 - Nodo Argentina Varioma, unpublished - rs80358006 Germline - - - - - DNA SEQ - - BROVCA BR2960 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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