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.

37 entries on 1 page. Showing entries 1 - 37.
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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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Methylation     

Template     

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Disease     

ID_report     

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Owner     
?/? 11 c.981A>G r.(?) p.(=) - Unknown - VUS g.41246567T>C g.43094550T>C - - BRCA1_001375 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 11 c.981A>G r.(?) p.(=) - Unknown - VUS g.41246567T>C g.43094550T>C - - BRCA1_001375 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 11 c.981A>G r.(?) p.(=) - Unknown - VUS g.41246567T>C g.43094550T>C - - BRCA1_001375 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 11 c.981A>G r.(?) p.(=) - Unknown - VUS g.41246567T>C g.43094550T>C 1100A>G - BRCA1_001375 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 11 c.981A>G r.(?) p.(=) - Unknown - VUS g.41246567T>C g.43094550T>C - - BRCA1_001375 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 11 c.981A>G r.(?) p.(=) - Unknown - VUS g.41246567T>C g.43094550T>C Thr327Thr - BRCA1_001375 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/? 11 c.981A>G r.(?) p.(=) - Unknown - VUS g.41246567T>C g.43094550T>C Thr327Thr - BRCA1_001375 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/? 11 c.981A>G r.(?) p.(=) - Unknown - VUS g.41246567T>C g.43094550T>C - - BRCA1_001375 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
?/? 11 c.981A>G r.(?) p.(=) - Unknown - VUS g.41246567T>C g.43094550T>C - - BRCA1_001375 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
-/- 11 c.981A>G r.(?) p.(=) - Unknown - benign g.41246567T>C g.43094550T>C - - BRCA1_001375 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 11 c.981A>G r.(?) p.(=) - Unknown - VUS g.41246567T>C g.43094550T>C - - BRCA1_001375 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 11 c.981A>G r.(?) p.(=) - Unknown - VUS g.41246567T>C g.43094550T>C - - BRCA1_001375 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 11 c.981A>G r.(?) p.(=) - Unknown - VUS g.41246567T>C g.43094550T>C - - BRCA1_001375 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 11 c.981A>G r.(?) p.(=) - Unknown - VUS g.41246567T>C g.43094550T>C - - BRCA1_001375 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/. 11 c.981A>G r.(?) p.= - Parent #1 - VUS g.41246567T>C g.43094550T>C - - BRCA1_001375 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
?/. 11 c.981A>G r.(?) p.= - Parent #1 - VUS g.41246567T>C g.43094550T>C - - BRCA1_001375 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Katrien Storm
?/? 11 c.981A>G r.(?) p.(=) - Unknown - VUS g.41246567T>C g.43094550T>C - - BRCA1_001375 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
?/. 11 c.981A>G r.(?) p.= - Unknown - VUS g.41246567T>C g.43094550T>C - - BRCA1_001375 - - - - Unknown - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Katrien Storm
-/. 11 c.981A>G r.(=) p.(Thr327=) - Unknown - benign g.41246567T>C g.43094550T>C - - BRCA1_001375 - shared by Quest Diagnostics - rs1800063 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/. 11 c.981A>G r.(?) p.(=) - Parent #1 - benign g.41246567T>C g.43094550T>C 1100A>G-Thr327Thr (Τ327Τ) - BRCA1_001375 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 1 family (BRCA1/2 screening) - - Greece - - - - - 1 Florentia Fostira
-/- 11 c.981A>G r.(?) p.(Thr327=) - Unknown ENIGMA benign g.41246567T>C g.43094550T>C T327T - BRCA1_001375 - - - rs1800063 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.981A>G r.(?) p.(Thr327=) - Unknown - benign g.41246567T>C g.43094550T>C - - BRCA1_001375 - - - rs1800063 Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR0506 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.981A>G r.(?) p.(Thr327=) - Unknown - benign g.41246567T>C g.43094550T>C - - BRCA1_001375 - - - rs1800063 Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR1141 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.981A>G r.(?) p.(Thr327=) - Unknown - benign g.41246567T>C g.43094550T>C - - BRCA1_001375 - - - rs1800063 Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR0665 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.981A>G r.(?) p.(Thr327=) - Unknown - benign g.41246567T>C g.43094550T>C - - BRCA1_001375 - - - rs1800063 Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR1020 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.981A>G r.(?) p.(=) - Unknown - benign g.41246567T>C g.43094550T>C - - BRCA1_001375 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
-/. 11 c.981A>G r.(?) p.(=) - Unknown - benign g.41246567T>C g.43094550T>C - - BRCA1_001375 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
-/. 11 c.981A>G r.(?) p.(=) - Unknown - benign g.41246567T>C g.43094550T>C - - BRCA1_001375 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
-?/. 11 c.981A>G r.(?) p.(Thr327=) - Unknown - likely benign g.41246567T>C g.43094550T>C BRCA1(NM_007294.3):c.981A>G (p.T327=), BRCA1(NM_007294.4):c.981A>G (p.T327=), BRCA1(NM_007300.4):c.981A>G (p.T327=) - BRCA1_001375 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.981A>G r.(?) p.(Thr327=) - Unknown - benign g.41246567T>C g.43094550T>C BRCA1(NM_007294.3):c.981A>G (p.T327=), BRCA1(NM_007294.4):c.981A>G (p.T327=), BRCA1(NM_007300.4):c.981A>G (p.T327=) - BRCA1_001375 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 11 c.981A>G r.(?) p.(Thr327=) - Unknown - likely benign g.41246567T>C g.43094550T>C BRCA1(NM_007294.3):c.981A>G (p.T327=), BRCA1(NM_007294.4):c.981A>G (p.T327=), BRCA1(NM_007300.4):c.981A>G (p.T327=) - BRCA1_001375 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.981A>G r.(?) p.(Thr327=) - Unknown - benign g.41246567T>C g.43094550T>C - - BRCA1_001375 - - - rs1800063 Germline - 6/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. - c.981A>G r.(?) p.(=) - Parent #1 - VUS g.41246567T>C g.43094550T>C - - BRCA1_001375 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.981A>G r.(?) p.(Thr327=) - Unknown - benign g.41246567T>C - BRCA1(NM_007294.3):c.981A>G (p.T327=), BRCA1(NM_007294.4):c.981A>G (p.T327=), BRCA1(NM_007300.4):c.981A>G (p.T327=) - BRCA1_001375 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.981A>G r.(?) p.(Thr327=) - Unknown - benign g.41246567T>C g.43094550T>C - - BRCA1_001375 - Nodo Argentina Varioma, unpublished - rs1800063 Germline - - - - - DNA SEQ - - BROVCA BR3025 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.981A>G r.(?) p.(Thr327=) - Unknown - benign g.41246567T>C g.43094550T>C - - BRCA1_001375 - Nodo Argentina Varioma, unpublished - rs1800063 Germline - - - - - DNA SEQ - - BROVCA BR3271 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. - c.981A>G r.(?) p.(Thr327=) - Unknown - VUS g.41246567T>C - BRCA1(NM_007294.3):c.981A>G (p.T327=), BRCA1(NM_007294.4):c.981A>G (p.T327=), BRCA1(NM_007300.4):c.981A>G (p.T327=) - BRCA1_001375 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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