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.

24 entries on 1 page. Showing entries 1 - 24.
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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     

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VIP     

Data_av     

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Panel size     

Owner     
+/+ 23 c.5444G>A r.(?) p.(Trp1815*) - Unknown - pathogenic g.41199683C>T g.43047666C>T - - BRCA1_001218 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 23 c.5444G>A r.(?) p.(Trp1815*) - Unknown - pathogenic g.41199683C>T g.43047666C>T - - BRCA1_001218 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 23 c.5444G>A r.(?) p.(Trp1815*) - Unknown - pathogenic g.41199683C>T g.43047666C>T - - BRCA1_001218 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
+/. 23 c.5444G>A r.(?) p.(Trp1815*) - Unknown - pathogenic g.41199683C>T g.43047666C>T - - BRCA1_001218 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - P14-5042 - 1 Arjen Mensenkamp
+/+ 23 c.5444G>A r.(?) p.(Trp1815*) - Parent #1 - pathogenic (dominant) g.41199683C>T g.43047666C>T - - BRCA1_001218 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 23 c.5444G>A r.(?) p.(Trp1815*) - Unknown - pathogenic g.41199683C>T g.43047666C>T - - BRCA1_001218 - - - rs80356962 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1132 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 23 c.5444G>A r.(?) p.(Trp1815*) - Unknown - pathogenic g.41199683C>T g.43047666C>T - - BRCA1_001218 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 23 c.5444G>A r.(?) p.(Trp1815*) - Unknown - pathogenic g.41199683C>T g.43047666C>T - - BRCA1_001218 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 23 c.5444G>A r.(?) p.(Trp1815Ter) - Unknown - pathogenic g.41199683C>T g.43047666C>T BRCA1(NM_007294.3):c.5444G>A (p.W1815*), BRCA1(NM_007294.4):c.5444G>A (p.W1815*), BRCA1(NM_007300.4):c.5507G>A (p.W1836*) - BRCA1_001218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 23 c.5444G>A r.(?) p.(Trp1815*) - Parent #1 - pathogenic g.41199683C>T g.43047666C>T - - BRCA1_001218 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Brazil white - - - - 1 Johan den Dunnen
+/. 23 c.5444G>A r.(?) p.(Trp1815*) - Parent #1 - pathogenic g.41199683C>T g.43047666C>T - - BRCA1_001218 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Canada white - - - - 1 Johan den Dunnen
+/. 23 c.5444G>A r.(?) p.(Trp1815*) - Parent #1 - pathogenic g.41199683C>T g.43047666C>T - - BRCA1_001218 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Germany unknown - - - - 4 Johan den Dunnen
+/. 23 c.5444G>A r.(?) p.(Trp1815*) - Parent #1 - pathogenic g.41199683C>T g.43047666C>T - - BRCA1_001218 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 11 families F - Italy white - - - - 11 Johan den Dunnen
+/. 23 c.5444G>A r.(?) p.(Trp1815*) - Parent #1 - pathogenic g.41199683C>T g.43047666C>T - - BRCA1_001218 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Sweden white - - - - 2 Johan den Dunnen
+/. 23 c.5444G>A r.(?) p.(Trp1815*) - Parent #1 - pathogenic g.41199683C>T g.43047666C>T - - BRCA1_001218 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - United States white - - - - 2 Johan den Dunnen
+/. - c.5444G>A r.(?) p.(Trp1815*) - Unknown - pathogenic (dominant) g.41199683C>T g.43047666C>T 5563G>A - BRCA1_001218 - PubMed: Jalkh 2012 - - Germline - - - - - DNA SEQ - - BROVCA 22713736-cas PubMed: Jalkh 2012 cases F - Lebanon - - - - - 2 Johan den Dunnen
+/. - c.5444G>A r.(?) p.(Trp1815*) - Unknown - pathogenic (dominant) g.41199683C>T g.43047666C>T 5563G>A - BRCA1_001218 - Journal: Laitman 2019 - rs80356962 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Lebanon - - - - - 1 Eitan Friedman
+/. - c.5444G>A r.(?) p.(Trp1815*) - Unknown - pathogenic (dominant) g.41199683C>T g.43047666C>T 5563G>A - BRCA1_001218 - PubMed: Yazici 2002, Journal: Laitman 2019 - rs80356962 Germline - 1/120 cases cancer, ovarian - - - DNA SEQ - - BROVCA 12112655-cas PubMed: Yazici 2002, Journal: Laitman 2019 case F - Turkey - - - - - 1 Eitan Friedman
+/. - c.5444G>A r.(?) p.(Trp1815*) - Parent #1 - pathogenic (dominant) g.41199683C>T g.43047666C>T - - BRCA1_001218 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 2 families with BRCA1/BRCA2 variant carriers F - France - - - - - 2 Johan den Dunnen
+/. - c.5444G>A r.(?) p.(Trp1815Ter) - Unknown - pathogenic g.41199683C>T g.43047666C>T BRCA1(NM_007294.3):c.5444G>A (p.W1815*), BRCA1(NM_007294.4):c.5444G>A (p.W1815*), BRCA1(NM_007300.4):c.5507G>A (p.W1836*) - BRCA1_001218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5444G>A r.(?) p.(Trp1815Ter) - Unknown - pathogenic g.41199683C>T g.43047666C>T BRCA1(NM_007294.3):c.5444G>A (p.W1815*), BRCA1(NM_007294.4):c.5444G>A (p.W1815*), BRCA1(NM_007300.4):c.5507G>A (p.W1836*) - BRCA1_001218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5444G>A r.(?) p.(Trp1815Ter) - Unknown - pathogenic g.41199683C>T g.43047666C>T BRCA1(NM_007294.3):c.5444G>A (p.W1815*), BRCA1(NM_007294.4):c.5444G>A (p.W1815*), BRCA1(NM_007300.4):c.5507G>A (p.W1836*) - BRCA1_001218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5444G>A r.(?) p.(Trp1815Ter) - Unknown - VUS g.41199683C>T g.43047666C>T BRCA1(NM_007294.3):c.5444G>A (p.W1815*), BRCA1(NM_007294.4):c.5444G>A (p.W1815*), BRCA1(NM_007300.4):c.5507G>A (p.W1836*) - BRCA1_001218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 23 c.5444G>A r.(?) p.(Trp1815*) - Parent #1 - pathogenic (dominant) g.41199683C>T g.43047666C>T - - BRCA1_001218 - PubMed: Santonocito 2020 - rs80356962 Germline - 1/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA ? PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 1 Johan den Dunnen
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