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.

33 entries on 1 page. Showing entries 1 - 33.
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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     
-/- 3 c.114G>A r.(?) p.(=) - Unknown - benign g.41267763C>T g.43115746C>T - - BRCA1_000028 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? - - - - - - 1 Maaike Vreeswijk
-/- 3 c.114G>A r.(=) p.(=) - Unknown - benign g.41267763C>T g.43115746C>T - - BRCA1_000028 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs1800062 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
?/. 3 c.114G>A r.(?) p.Lys38Lys - Unknown - NA g.41267763C>T g.43115746C>T 233G>A (K38K) - BRCA1_000028 - PubMed: Ho 2000 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.114G>A r.(?) p.Leu38Leu - Unknown - NA g.41267763C>T g.43115746C>T L38L - BRCA1_000028 - PubMed: McKean-Cowdin 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 3 c.114G>A r.(=) p.(Lys38=) - Unknown - benign g.41267763C>T g.43115746C>T - - BRCA1_000028 - shared by Quest Diagnostics - rs1800062 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 3 c.114G>A r.(?) p.(=) - Parent #1 - benign g.41267763C>T g.43115746C>T - - BRCA1_000028 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.05769 (Asian), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/- 3 c.114G>A r.(?) p.(Lys38=) - Unknown - benign g.41267763C>T g.43115746C>T - - BRCA1_000028 - - - rs1800062 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR0553 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 3 c.114G>A r.(?) p.(Lys38=) - Unknown - benign g.41267763C>T g.43115746C>T - - BRCA1_000028 - - - rs1800062 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR1459 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 3 c.114G>A r.(?) p.(Lys38=) - Unknown - benign g.41267763C>T g.43115746C>T - - BRCA1_000028 - - - rs1800062 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR1466 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/- 3 c.114G>A r.(?) p.(Lys38=) - Parent #1 - VUS g.41267763C>T g.43115746C>T 233G>A (Lys38Lys) - BRCA1_000028 - PubMed: Torres 2007 - - Germline - 2/53 cases - - - DNA DHPLC, SEQ, SSCA blood - BROVCA 17080309-Fam26 PubMed: Torres 2007 family, 1 affected - - Colombia Hispanic - - - - 1 Johan den Dunnen
?/- 3 c.114G>A r.(?) p.(Lys38=) - Parent #1 - VUS g.41267763C>T g.43115746C>T 233G>A (Lys38Lys) - BRCA1_000028 - PubMed: Torres 2007 - - Germline - 2/53 cases - - - DNA DHPLC, SEQ, SSCA blood - BROVCA 17080309-Fam27 PubMed: Torres 2007 family, 1 affected - - Colombia Hispanic - - - - 1 Johan den Dunnen
-/- 3 c.114G>A r.(?) p.(Lys38=) - Unknown - benign g.41267763C>T g.43115746C>T BRCA1(NM_007294.3):c.114G>A (p.K38=, p.(Lys38=), p.Lys38=), BRCA1(NM_007294.4):c.114G>A (p.K38=) - BRCA1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/- 3 c.114G>A r.(?) p.(Lys38=) - Unknown - likely benign g.41267763C>T g.43115746C>T BRCA1(NM_007294.3):c.114G>A (p.K38=, p.(Lys38=), p.Lys38=), BRCA1(NM_007294.4):c.114G>A (p.K38=) - BRCA1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 3 c.114G>A r.(?) p.(Lys38=) - Unknown - benign g.41267763C>T g.43115746C>T BRCA1(NM_007294.3):c.114G>A (p.K38=, p.(Lys38=), p.Lys38=), BRCA1(NM_007294.4):c.114G>A (p.K38=) - BRCA1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 3 c.114G>A r.(?) p.(Lys38=) - Unknown - benign g.41267763C>T g.43115746C>T BRCA1(NM_007294.3):c.114G>A (p.K38=, p.(Lys38=), p.Lys38=), BRCA1(NM_007294.4):c.114G>A (p.K38=) - BRCA1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 3 c.114G>A r.(?) p.(Lys38=) - Unknown - benign g.41267763C>T g.43115746C>T BRCA1(NM_007294.3):c.114G>A (p.K38=, p.(Lys38=), p.Lys38=), BRCA1(NM_007294.4):c.114G>A (p.K38=) - BRCA1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.114G>A r.(?) p.(Lys38=) - Unknown - benign g.41267763C>T g.43115746C>T - - BRCA1_000028 - - - rs1800062 Germline - 1/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 3 c.114G>A r.(?) p.(=) - Parent #1 - benign g.41267763C>T g.43115746C>T - - BRCA1_000028 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1800062 Germline - 977/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 977 Yukihide Momozawa
-/. 3 c.114G>A r.(?) p.(=) - Parent #1 - benign g.41267763C>T g.43115746C>T - - BRCA1_000028 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1800062 Germline - 1543/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 1543 Yukihide Momozawa
-/. - c.114G>A r.(?) p.(=) - Both (homozygous) - benign g.41267763C>T g.43115746C>T - - BRCA1_000028 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1800062 Germline - 48/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 48 Yukihide Momozawa
-/. - c.114G>A r.(?) p.(=) - Both (homozygous) - benign g.41267763C>T g.43115746C>T - - BRCA1_000028 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1800062 Germline - 79/11241 controls - - - DNA SEQ - - Healthy/Control -con-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 79 Yukihide Momozawa
-/. - c.114G>A r.(?) p.(=) - Parent #1 - benign g.41267763C>T g.43115746C>T - - BRCA1_000028 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1800062 Germline - 7/53 cases - - - DNA SEQ - - cancer, breast -cases-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 53 male breast cancer cases M - Japan - - - - - 7 Yukihide Momozawa
-/. - c.114G>A r.(?) p.(=) - Both (homozygous) - benign g.41267763C>T g.43115746C>T - - BRCA1_000028 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1800062 Germline - 85/12489 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 85 Yukihide Momozawa
-/. - c.114G>A r.(?) p.(=) - Parent #1 - benign g.41267763C>T g.43115746C>T - - BRCA1_000028 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1800062 Germline - 1696/12489 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 1696 Yukihide Momozawa
-/. - c.114G>A r.(?) p.(=) - Parent #1 - benign g.41267763C>T g.43115746C>T 114G>A, 233G>A - BRCA1_000028 - PubMed: Bhaskaran 2019 - (refs 2, 8, 14, 23, 34, 61, 80, 95) - rs1800062 Germline - 17/1345 cases - - - DNA SEQ-NG, SEQ, DHPLC, SSCA - - cancer, breast BRCA1-var18 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 17 Johan den Dunnen
-/. 3 c.114G>A r.(?) p.(Lys38=) - Unknown - benign g.41267763C>T g.43115746C>T - - BRCA1_000028 - - - rs1800062 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.114G>A r.(?) p.(Lys38=) - Unknown - benign g.41267763C>T g.43115746C>T BRCA1(NM_007294.3):c.114G>A (p.K38=, p.(Lys38=), p.Lys38=), BRCA1(NM_007294.4):c.114G>A (p.K38=) - BRCA1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.114G>A r.(?) p.(=) - Unknown - benign g.41267763C>T g.43115746C>T - - BRCA1_000028 - Journal: Gao 2020 as reported in: PubMed: Wu 2017, Journal: Wu 2017 - - Germline - 1 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Wu 2017, Journal: Wu 2017 breast/ovarian cancer families/patients - - China - - - - - 1 Xianqi Gao
?/. - c.114G>A r.(?) p.(=) - Parent #1 - VUS g.41267763C>T g.43115746C>T - - BRCA1_000028 classified as class 1, 2, 3, 4 or 5 in 7/25800 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 - 7 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 7 UK Variant Sharing Initiative
-/. - c.114G>A r.(?) p.(Lys38=) - Parent #1 - benign g.41267763C>T g.43115746C>T - - BRCA1_000028 - PubMed: Dong 2021 - rs1800062 Germline - 691/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 577F/127M F;M - China - - - - - 691 Johan den Dunnen
-/. - c.114G>A r.(?) p.(Lys38=) - Both (homozygous) - benign g.41267763C>T g.43115746C>T - - BRCA1_000028 - PubMed: Dong 2021 - rs1800062 Germline - 13/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 577F/127M F;M - China - - - - - 13 Johan den Dunnen
-/. - c.114G>A r.(?) p.(Lys38=) - Unknown - benign g.41267763C>T - BRCA1(NM_007294.3):c.114G>A (p.K38=, p.(Lys38=), p.Lys38=), BRCA1(NM_007294.4):c.114G>A (p.K38=) - BRCA1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.114G>A r.(?) p.(Lys38=) - Unknown - benign g.41267763C>T g.43115746C>T - - BRCA1_000028 - Nodo Argentina Varioma, unpublished - rs1800062 Germline - - - - - DNA SEQ - - BROVCA BR3367 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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