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.

33036 entries on 331 pages. Showing entries 1 - 100.
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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     
+/. 4i_7i c.(134+1_135-1)_(441+1_442_1)del r.? p.? - Parent #1 - pathogenic (dominant) g.(41251898_41256138)_(41258551_41267742)del - LRG_292:g.(111450_113863)del - BRCA1_001700 - Van Der Merwe 2020, submitted - - Germline - 1/744 cases - 0 - DNA MLPA - - cancer, breast 1884/18 Van Der Merwe 2020, submitted analysis 744 individuals with breast/ovarian cancer - - South Africa white non Afrikaner - 0 - - 1 Nerina Chrisna van der Merwe
?/. _1_12i c.(?_-232)_ (4185+1_4186-1)dup r.0? p.0? - Unknown - VUS g.(41234593_41242960)_(41277500_?)dup - - - BRCA1_004700 - - - - Germline - - - 0 - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - 0 - - 1 Hans Gille
+/. (17_18) c.? r.(?) p.(fs*) - Parent #1 - pathogenic g.? - 5154delTTTTC - BRCA1_000000 - PubMed: Briceno-Balcazar 2017 - - Germline - - - 0 - DNA SEQ blood - cancer, breast 29021639-Pat? PubMed: Briceno-Balcazar 2017 analysis 256 breast cancer cases - - Colombia - - 0 - - 1 Johan den Dunnen
+/. - c.? r.? p.? - Unknown - pathogenic (dominant) g.? - 5090_5093delGTTA (Leu1697fs) - BRCA1_000000 - PubMed: Jalkh 2017, Journal: Laitman 2019 - - Germline - - - 0 - DNA SEQ - - BROVCA 28202063-cas PubMed: Jalkh 2017, Journal: Laitman 2019 case F - Lebanon - - 0 - - 1 Eitan Friedman
+/. - c.? r.? p.? - Unknown - pathogenic (dominant) g.? - 3318C>A - BRCA1_000000 - Journal: Laitman 2019 - - Germline - - - 0 - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Croatia (Hrvatska) - - 0 - - 1 Eitan Friedman
+/. - c.? r.? p.? - Unknown - pathogenic (dominant) g.? - 1405_1406delGA - BRCA1_000000 - Journal: Laitman 2019 - - Germline - - - 0 - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Greece - - 0 - - 1 Eitan Friedman
-/. - c.? r.(?) p.? - Parent #1 - benign g.? - 561-34T>C (442-34T>C) - MYH2_000008 - PubMed: Bhaskaran 2019 - (refs 12) - - Germline - 2/82 cases - 0 - DNA SEQ - - cancer, breast BRCA1-var59 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - 0 - - 2 Johan den Dunnen
?/. - c.? r.? p.? - Parent #1 - VUS g.? - 548-37A>T, IVS8-37T>A - MYH2_000008 - PubMed: Bhaskaran 2019 - (refs 45) - - Germline - 2/139 cases - 0 - DNA SEQ - - cancer, breast BRCA1-var73 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - 0 - - 2 Johan den Dunnen
?/. - c.? r.? p.? - Parent #1 - VUS g.? - IVS12+56C>T (4096+56G>A) - MYH2_000008 - PubMed: Bhaskaran 2019 - (refs 38, 80) - - Germline - 2/489 cases - 0 - DNA SEQ - - cancer, breast BRCA1-var392 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - 0 - - 2 Johan den Dunnen
?/. - c.? r.? p.? - Parent #1 - VUS g.? - 4956A>G - MYH2_000008 - PubMed: Bhaskaran 2019 - (refs 1) - - Germline - 2/59 cases - 0 - DNA SEQ - - cancer, breast BRCA1-var467 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - 0 - - 2 Johan den Dunnen
?/. - c.? r.? p.? - Parent #1 - VUS g.? - 5215+268G>A - MYH2_000008 - PubMed: Bhaskaran 2019 - (refs 73) - - Germline - 1/86 cases - 0 - DNA SEQ - - cancer, breast BRCA1-var507 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - 0 - - 1 Johan den Dunnen
?/. - c.? r.? p.? - Parent #1 - VUS g.? - 5526+32A>T (5406+32A>T) - MYH2_000008 - PubMed: Bhaskaran 2019 - (refs 2) - - Germline - 1/130 cases - 0 - DNA SEQ - - cancer, breast BRCA1-var535 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - 0 - - 1 Johan den Dunnen
?/. - c.? r.(?) p.? - Parent #1 - VUS g.? - 5587-1del8, 5587-1delGCAA TTGG - MYH2_000008 - PubMed: Bhaskaran 2019 - (refs 58, 64, 74) - - Germline - 3/1365 cases - 0 - DNA SEQ - - cancer, breast BRCA1-var552 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - 0 - - 3 Johan den Dunnen
?/. - c.? r.(?) p.? - Parent #1 - VUS g.? - IVS2-55insG - MYH2_000008 - PubMed: Bhaskaran 2019 - (refs 28, 30, 31, 32, 33, 72) - - Germline - 6/430 cases - 0 - DNA SEQ - - cancer, breast BRCA1-var554 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - 0 - - 6 Johan den Dunnen
?/. - c.? r.(?) p.? - Parent #1 - VUS g.? - IVS2-55insTG - MYH2_000008 - PubMed: Bhaskaran 2019 - (refs 28, 30, 31, 32, 33, 72) - - Germline - 6/430 cases - 0 - DNA SEQ - - cancer, breast BRCA1-var555 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - 0 - - 6 Johan den Dunnen
?/. - c.? r.(?) p.? - Parent #1 - VUS g.? - IVS3+G>T - MYH2_000008 - PubMed: Bhaskaran 2019 - (refs 41) - - Germline - 1/118 cases - 0 - DNA SEQ - - cancer, breast BRCA1-var556 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - 0 - - 1 Johan den Dunnen
+/. _1_3i c.(-67790_-66331)_(134+1_135-1)del r.0? p.0? - Unknown - pathogenic (41258551_41267742)_(41343599_41345058)del g.(43106534_43115725)_(43191582_43193041)del - - BRCA1_006092 - - - - Germline - - - 0 - DNA MLPA, PCRlr, SEQ, SEQ-NG-I - - cancer, breast, familial F-1067 - - - - Hungary - - - - - 1 Anikó Bozsik
+/. _1_20i c.-59231_5278-637del r.0? p.0? - Unknown - pathogenic g.41203798_41336526del g.43051781_43184509del NG_005905.2:g.33502_166230del - BRCA1_006086 - - - - Germline - - - 0 - DNA MLPA, PCRlr, SEQ, SEQ-NG-I - - cancer, breast, familial F-1052 - - - - Hungary - - - - - 1 Anikó Bozsik
+/. _1_2i c.-33026_80+3829del r.? p.? - Unknown - pathogenic g.41272205_41310294del g.43120188_43158277del -33026_80+3829del36935 - BRCA1_004676 - - - - Germline - - - 0 - DNA SEQ - - cancer, breast - - - - - Netherlands - - 0 - - 1 Ans M.W. van den Ouweland
+/. _1_2i c.-33026_80+3829del r.? p.? - Unknown - pathogenic g.41272205_41310294del g.43120188_43158277del -33026_80+3829del36935 - BRCA1_004676 - - - - Germline - - - 0 - DNA SEQ - - cancer, breast - - - - - Netherlands - - 0 - - 1 Ans M.W. van den Ouweland
+/. _1_2i c.-32848_80+2226del r.0? p.0? - Unknown - pathogenic g.41273870_41310178del g.43121853_43158161del - - BRCA1_006087 - - - - Germline - - - 0 - DNA MLPA, PCRlr, SEQ, SEQ-NG-I - - cancer, breast, familial F-1055 - - - - Hungary - - - - - 1 Anikó Bozsik
+/. _1_2i c.-32745_80+2333del r.0? p.0? - Unknown - pathogenic g.41273718_41310030del g.43121701_43158013del - - BRCA1_006088 - - - - Germline - - - 0 - DNA MLPA, PCRlr, SEQ, SEQ-NG-I - - cancer, breast, familial F-1276 - - - - Hungary - - - - - 1 Anikó Bozsik
+/. _1_3i c.-7775_134+3913del r.0? p.0? - Unknown - pathogenic g.41263834_41285047del g.43111817_43133030del NG_005905.2:g.84958_106171del - BRCA1_006089 - - - - Germline - - - 0 - DNA MLPA, PCRlr, SEQ, SEQ-NG-I - - cancer, breast, familial Sz-2533 - - - - Hungary - - - - - 1 Anikó Bozsik
+/+ _1_2i c.-7620_80+468delins(8) r.0? p.0? - Unknown - pathogenic g.41275566_41284888delins(8) - -7621_80+468delins9 - BRCA1_001199 - - - - Unknown ? - - 0 - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/. _1_2i c.-7620_80+468delins(8) r.? p.? - Unknown - pathogenic g.41275566_41284888delins(8) - -7620_80+468delins8 - BRCA1_001199 - - - - Germline - - - 0 - DNA SEQ - - cancer, breast - - - - - Netherlands - - 0 - - 1 Ans M.W. van den Ouweland
+/. _1_2i c.-7620_80+468delins(8) r.? p.? - Unknown - pathogenic g.41275566_41284888delins(8) - -7620_80+468delins8 - BRCA1_001199 - - - - Germline - - - 0 - DNA SEQ - - cancer, breast - - - - - Netherlands - - 0 - - 1 Ans M.W. van den Ouweland
+/. _1_2i c.-7620_80+468delins(8) r.? p.? - Unknown - pathogenic g.41275566_41284888delins(8) - -7620_80+468delins8 - BRCA1_001199 - - - - Germline - - - 0 - DNA SEQ - - cancer, breast - - - - - Netherlands - - 0 - - 1 Ans M.W. van den Ouweland
+/. _1_2i c.-7620_80+468delins(8) r.? p.? - Unknown - pathogenic g.41275566_41284888delins(8) - -7620_80+468delins8 - BRCA1_001199 - - - - Germline - - - 0 - DNA SEQ - - cancer, breast - - - - - Netherlands - - 0 - - 1 Ans M.W. van den Ouweland
+/. _1_2i c.-7620_80+468delins(8) r.? p.? - Unknown - pathogenic g.41275566_41284888delins(8) - -7620_80+468delins8 - BRCA1_001199 - - - - Germline - - - 0 - DNA SEQ - - cancer, breast - - - - - Netherlands - - 0 - - 1 Ans M.W. van den Ouweland
+/. _1_2i c.-7620_80+468delins(8) r.? p.? - Unknown - pathogenic g.41275566_41284888delins(8) - -7620_80+468delins8 - BRCA1_001199 - - - - Germline - - - 0 - DNA SEQ - - cancer, breast - - - - - Netherlands - - 0 - - 1 Ans M.W. van den Ouweland
?/. _1_2i c.-2673_80+3351dup r.? p.? - Unknown - VUS g.41272731_41279989dup g.43120714_43127972dup - - BRCA1_006090 - - - - Germline - - - 0 - DNA MLPA, PCRlr, SEQ - - cancer, breast, familial Sz-1203 - - - - Hungary - - - - - 1 Anikó Bozsik
?/. _1_2i c.-2673_80+3351dup r.? p.? - Unknown - VUS g.41272731_41279989dup g.43120714_43127972dup - - BRCA1_006090 - - - - Germline - - - 0 - DNA MLPA, PCRlr, SEQ, SEQ-NG-I - - cancer, breast, familial F-1485 - - - - Hungary - - - - - 1 Anikó Bozsik
?/. _1_2i c.-2673_80+3351dup r.? p.? - Unknown - VUS g.41272731_41279989dup g.43120714_43127972dup - - BRCA1_006090 - - - - Germline - - - 0 - DNA MLPA, PCRlr, SEQ, SEQ-NG-I - - cancer, breast, familial EF-149 - - - - Hungary - - - - - 1 Anikó Bozsik
-/- _1 c.-2617_-2616del r.(?) p.(=) - Parent #1 - benign g.41279884_41279885del g.43127867_43127868del - - BRCA1_004602 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.37 (African), derived from 1000 genomes (2012-04-30). Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. ENIGMA classification criteria - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- _1 c.-2614T>C r.(?) p.(=) - Parent #1 - benign g.41279882A>G g.43127865A>G - - BRCA1_004601 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.22 (African), 0.36 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- _1 c.-2569G>T r.(?) p.(=) - Parent #1 - benign g.41279837C>A g.43127820C>A - - BRCA1_004600 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.13 (African), 0.35 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- _1 c.-2502T>C r.(?) p.(=) - Parent #1 - benign g.41279770A>G g.43127753A>G - - BRCA1_004599 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.21 (African), 0.37 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- _1 c.-2293C>G r.(?) p.(=) - Parent #1 - benign g.41279561G>C g.43127544G>C - - BRCA1_004598 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.87 (African), 0.37 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- _1 c.-2266G>A r.(?) p.(=) - Parent #1 - benign g.41279534C>T g.43127517C>T - - BRCA1_004597 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.05 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- _1 c.-2261T>C r.(?) p.(=) - Parent #1 - benign g.41279529A>G g.43127512A>G - - BRCA1_004596 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. _1_3i c.(-3762_-429)_(134+1_135-1)del r.? p.? - Unknown - pathogenic (41258551_41267742)_(41277697_41281030)del g.(43106534_43115725)_(43125680_43129013)del NG_005905.2:g.(88971_92304)_(102259_111450)del - BRCA1_006091 - - - - Germline - - - 0 - DNA MLPA, PCRlr, SEQ, SEQ-NG-I - - cancer, breast, familial F-1361 - - - - Hungary - - - - - 1 Anikó Bozsik
-/- _1 c.-2030T>C r.(?) p.(=) - Parent #1 - benign g.41279298A>G g.43127281A>G - - BRCA1_004595 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.22 (African), 0.36 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- _1 c.-1959C>T r.(?) p.(=) - Parent #1 - benign g.41279227G>A g.43127210G>A - - BRCA1_004594 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.03 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- _1 c.-1648T>C r.(?) p.(=) - Parent #1 - benign g.41278916A>G g.43126899A>G - - BRCA1_004593 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.71 (African), 0.36 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- _1 c.-1619G>A r.(?) p.(=) - Parent #1 - benign g.41278887C>T g.43126870C>T - - BRCA1_004592 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.04 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- _1 c.-1465G>A r.(?) p.(=) - Parent #1 - benign g.41278733C>T g.43126716C>T - - BRCA1_004591 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.08 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- _1 c.-1457G>C r.(?) p.(=) - Parent #1 - benign g.41278725C>G g.43126708C>G - - BRCA1_004590 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.5 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. _1_2i c.(?_-1387-1)_(80+1_81-1)del r.0? p.0? - Unknown - pathogenic g.(41267797_41276033)_(41278656_?)del - del ex1a-2 - BRCA1_004864 - PubMed: Arai 2018, Journal: Arai 2018 - - Germline - - - 0 - DNA SEQ-NG - - BROVCA 29176636-Pat PubMed: Arai 2018, Journal: Arai 2018 analysis 860 breast/ovarian cancer pedigrees - - Japan - - 0 - - 2 Johan den Dunnen
+/. _1_2i c.(?_-1387-1)_(80+1_81-1)del r.0? p.0? - Parent #1 - pathogenic (dominant) g.(41267797_41276033)_(41278656_?)del - - - BRCA1_004864 - PubMed: Santonocito 2020 - - Germline - 3/2351 cases - 0 - DNA SEQ-NG - BRCA1/2 sequencing BROVCA ? PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - 0 - - 3 Johan den Dunnen
+/. _1_9i c.(?_-1387-1)_(593+1_594-1)del r.0? p.0? - Unknown - pathogenic g.(41247940_41249260)_(41278656_?)del - del ex1a-9 - BRCA1_004863 - PubMed: Arai 2018, Journal: Arai 2018 - - Germline - - - 0 - DNA SEQ-NG - - BROVCA 29176636-Pat PubMed: Arai 2018, Journal: Arai 2018 analysis 860 breast/ovarian cancer pedigrees - - Japan - - 0 - - 1 Johan den Dunnen
-/- _1 c.-1109C>T r.(?) p.(=) - Parent #1 - benign g.41278377G>A g.43126360G>A - - BRCA1_004589 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.22 (African), 0.36 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- _1 c.-1074C>G r.(=) p.(=) - Unknown kConFab benign g.41278342G>C g.43126325G>C g.3565 C>G - BRCA1_002939 - kConFab variant classification: PM - - Germline - 47/1658 - 0 - DNA SEQ - - cancer, breast - - 47 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - 0 - - 47 kConFab - Heather Thorne
?/. _1 c.-1044C>T r.(=) p.(=) - Unknown - VUS g.41278312G>A g.43126295G>A - - BRCA1_005321 - PubMed: Burke 2018, Journal: Burke 2018 - rs554849044 Germline - 2/6475 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6475 cases - - Italy;Czech Republic - - 0 - - 2 Lez J Burke
?/. _1 c.-1044C>T r.(=) p.(=) - Unknown - VUS g.41278312G>A g.43126295G>A - - BRCA1_005321 - PubMed: Burke 2018, Journal: Burke 2018 - rs554849044 Germline - 1/1103 controls - 0 - DNA SEQ - promoter/5'UTR Healthy/Control 30204945-controls PubMed: Burke 2018, Journal: Burke 2018 analysis 1103 controls F - Italy - - 0 - - 1 Lez J Burke
?/. _1 c.-948G>A r.(=) p.(=) - Unknown - VUS g.41278216C>T g.43126199C>T - - BRCA1_005320 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 2/6475 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6475 cases - - Czech Republic - - 0 - - 2 Lez J Burke
?/. _1 c.-946G>A r.(=) p.(=) - Unknown - VUS g.41278214C>T g.43126197C>T - - BRCA1_005319 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6475 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6475 cases - - Italy - - 0 - - 1 Lez J Burke
?/. _1 c.-939C>T r.(=) p.(=) - Unknown - VUS g.41278207G>A g.43126190G>A - - BRCA1_005318 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - rs941238609 Germline - 1/6475 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6475 cases - - Italy - - 0 - - 1 Lez J Burke
?/. _1 c.-932T>C r.(=) p.(=) - Unknown - VUS g.41278200A>G g.43126183A>G - - BRCA1_005317 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6475 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6475 cases - - Italy - - 0 - - 1 Lez J Burke
-/- _1 c.-848A>G r.(?) p.(=) - Parent #1 - benign g.41278116T>C g.43126099T>C - - BRCA1_004588 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.72 (African), 0.37 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. _1 c.-730C>T r.(=) p.(=) - Unknown - benign g.41277998G>A g.43125981G>A - - BRCA1_005316 - PubMed: Burke 2018, Journal: Burke 2018 - rs73625095 Germline - 77/6475 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6475 cases - - Belgium;Italy;Czech Republic - - 0 - - 77 Lez J Burke
-/. _1 c.-730C>T r.(=) p.(=) - Unknown - benign g.41277998G>A g.43125981G>A - - BRCA1_005316 - PubMed: Burke 2018, Journal: Burke 2018 - rs73625095 Germline - 33/1103 controls - 0 - DNA SEQ - promoter/5'UTR Healthy/Control 30204945-controls PubMed: Burke 2018, Journal: Burke 2018 analysis 1103 controls F - Italy;Czech Republic - - 0 - - 33 Lez J Burke
-/- _1 c.-728A>G r.(?) p.(=) - Parent #1 - benign g.41277996T>C g.43125979T>C - - BRCA1_004587 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.06 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. _1 c.-676T>A r.(=) p.(=) - Unknown - benign g.41277944A>T g.43125927A>T - - BRCA1_005315 - PubMed: Burke 2018, Journal: Burke 2018 - rs8176072 Germline - 45/6475 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6475 cases - - Belgium;Czech Republic - - 0 - - 45 Lez J Burke
-/. _1 c.-676T>A r.(=) p.(=) - Unknown - benign g.41277944A>T g.43125927A>T - - BRCA1_005315 - PubMed: Burke 2018, Journal: Burke 2018 - rs8176072 Germline - 10/1103 controls - 0 - DNA SEQ - promoter/5'UTR Healthy/Control 30204945-controls PubMed: Burke 2018, Journal: Burke 2018 analysis 1103 controls F - Czech Republic - - 0 - - 10 Lez J Burke
?/. _1 c.-593T>C r.(=) p.(=) - Unknown - VUS g.41277861A>G g.43125844A>G - - BRCA1_005314 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6475 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6475 cases - - Belgium - - 0 - - 1 Lez J Burke
-/. _1 c.-589A>G r.(=) p.(=) - Unknown - benign g.41277857T>C g.43125840T>C - - BRCA1_005313 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - rs563017140 Germline - 4/6475 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6475 cases - - Belgium;Czech Republic - - 0 - - 4 Lez J Burke
-/. _1 c.-585C>A r.(=) p.(=) - Unknown - benign g.41277853G>T g.43125836G>T - - BRCA1_005312 - PubMed: Burke 2018, Journal: Burke 2018 - rs73625094 Germline - 19/6475 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6475 cases - - France;Belgium;Italy;Czech Republic;Spain - - 0 - - 19 Lez J Burke
-/. _1 c.-585C>A r.(=) p.(=) - Unknown - benign g.41277853G>T g.43125836G>T - - BRCA1_005312 - PubMed: Burke 2018, Journal: Burke 2018 - rs73625094 Germline - 8/1103 controls - 0 - DNA SEQ - promoter/5'UTR Healthy/Control 30204945-controls PubMed: Burke 2018, Journal: Burke 2018 analysis 1103 controls F - Italy - - 0 - - 8 Lez J Burke
?/. _1 c.-577A>G r.(=) p.(=) - Unknown - VUS g.41277845T>C g.43125828T>C - - BRCA1_005311 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6475 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6475 cases - - Italy - - 0 - - 1 Lez J Burke
?/. _1 c.-516A>C r.(=) p.(=) - Unknown - VUS g.41277784T>G g.43125767T>G - - BRCA1_005310 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6475 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6475 cases - - Italy - - 0 - - 1 Lez J Burke
-/. _1 c.-497G>A r.(=) p.(=) - Unknown - benign g.41277765C>T g.43125748C>T - - BRCA1_005309 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - rs8176074 Germline - 3/6475 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6475 cases - - Belgium - - 0 - - 3 Lez J Burke
?/. _1 c.-408T>A r.(=) p.(=) - Unknown - VUS g.41277676A>T g.43125659A>T - - BRCA1_005308 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6475 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6475 cases - - Italy - - 0 - - 1 Lez J Burke
?/. _1 c.-408T>A r.= p.= - Unknown - NA g.41277676A>T g.43125659A>T - - BRCA1_005308 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-380G>A r.(=) p.(=) - Unknown - VUS g.41277648C>T g.43125631C>T - - BRCA1_005307 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 3/6475 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6475 cases - - Italy;Spain;Czech Republic - - 0 - - 3 Lez J Burke
?/. _1 c.-380G>A r.= p.= - Unknown - NA g.41277648C>T g.43125631C>T - - BRCA1_005307 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-378C>A r.(=) p.(=) - Unknown - VUS g.41277646G>T g.43125629G>T - - BRCA1_005306 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - rs186775935 Germline - 1/6475 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6475 cases - - Belgium - - 0 - - 1 Lez J Burke
?/. _1 c.-378C>A r.= p.= - Unknown - NA g.41277646G>T g.43125629G>T - - BRCA1_005306 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. _1 c.-371G>T r.(=) p.(=) - Unknown - likely benign g.41277639C>A g.43125622C>A - - BRCA1_005305 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6475 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6475 cases - - Czech Republic - - 0 - - 1 Lez J Burke
?/. _1 c.-366C>T r.(=) p.(=) - Unknown - VUS g.41277634G>A g.43125617G>A - - BRCA1_005304 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 2/6475 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6475 cases - - Czech Republic - - 0 - - 2 Lez J Burke
?/. _1 c.-315del r.(=) p.(=) - Unknown - VUS g.41277586del g.43125569del - - BRCA1_005303 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - rs901029407 Germline - 1/6475 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6475 cases - - Spain - - 0 - - 1 Lez J Burke
+?/. 1 c.-315del r.(=) p.(=) - Unknown - NA g.41277586del g.43125569del - - BRCA1_005303 expression cloning luciferase assay 0.7x decreased (MCF7 cells) PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-287C>T r.(=) p.(=) - Unknown - VUS g.41277555G>A g.43125538G>A - - BRCA1_005302 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6475 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6475 cases - - Italy - - 0 - - 1 Lez J Burke
+?/. 1 c.-287C>T r.(=) p.(=) - Unknown - NA g.41277555G>A g.43125538G>A - - BRCA1_005302 expression cloning luciferase assay 1.5x increased (MCF7 cells) PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. _1_1i c.-283_-20+188|gom r.0? p.0? - Parent #1 - likely pathogenic g.41277100_41277551|gom - - - BRCA1_005079 - - - - Somatic - - - 0 allele methylated DNA SEQms - bisulfite sequencing BROVCA Fam1 Journal: Evans 2018 3-generation family, 3 affected (3F), 4 non-affected carriers (F, 3M) F - United Kingdom (Great Britain) - - 0 - - 3 Elke M van Veen
+?/. _1_1i c.-283_-20+188|gom r.0? p.0? - Parent #1 - likely pathogenic g.41277100_41277551|gom - - - BRCA1_005079 - Journal: Evans 2018 - - Somatic - - - 0 allele methylated DNA SEQms - bisulfite sequencing BROVCA Fam2 Journal: Evans 2018 3-generation family, 2 affected (F) carriers, 2 unaffected carriers (F, M) F - United Kingdom (Great Britain) - - 0 - - 4 Elke M van Veen
-/- _1 c.-273G>A r.(?) p.(=) - Parent #1 - benign g.41277541C>T g.43125524C>T - - BRCA1_004586 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- _1 c.-273G>A r.(=) p.(=) - Unknown - benign g.41277541C>T g.43125524C>T - - BRCA1_004586 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - rs112960339 Germline - 4/6475 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6475 cases - - Belgium - - 0 - - 4 Lez J Burke
?/. 1 c.-273G>A r.= p.= - Unknown - NA g.41277541C>T g.43125524C>T - - BRCA1_004586 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-264T>G r.(=) p.(=) - Unknown - VUS g.41277532A>C g.43125515A>C - - BRCA1_005301 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - rs904148166 Germline - 1/6475 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6475 cases - - Czech Republic - - 0 - - 1 Lez J Burke
?/. 1 c.-264T>G r.= p.= - Unknown - NA g.41277532A>C g.43125515A>C - - BRCA1_005301 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. _1_2i c.-232-31433_80+4171del r.? p.? - Parent #1 - pathogenic g.41271863_41308933del g.43119846_43156916del - - BRCA1_005065 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast, familial CIMBA-Fam? Journal: Rebbeck 2018 1 family F - France white - 0 - - 1 Johan den Dunnen
+/. _1_2i c.-232-31433_80+4171del r.? p.? - Parent #1 - pathogenic g.41271863_41308933del g.43119846_43156916del - - BRCA1_005065 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast, familial CIMBA-Fam? Journal: Rebbeck 2018 2 families F - Italy white - 0 - - 2 Johan den Dunnen
+/. _1_2i c.-232-31433_80+4171del r.? p.? - Parent #1 - pathogenic g.41271863_41308933del g.43119846_43156916del - - BRCA1_005065 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast, familial CIMBA-Fam? Journal: Rebbeck 2018 1 family F - United States white - 0 - - 1 Johan den Dunnen
+/. _1_1i c.(?_-232)_(-20+1_-19-1)del r.0? p.0? - Parent #1 - pathogenic g.(41276133_41277287)_(41277500_?)del - c.-232-?_-19+?del - BRCA1_001656 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast, familial CIMBA-Fam? Journal: Rebbeck 2018 1 family F - United Kingdom (Great Britain) white - 0 - - 1 Johan den Dunnen
+/. _1_1i c.(?_-232)_(-20+1_-19-1)del r.0? p.0? - Parent #1 - pathogenic g.(41276133_41277287)_(41277500_?)del - c.-232-?_-19+?del - BRCA1_001656 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast, familial CIMBA-Fam? Journal: Rebbeck 2018 1 family F - United States Ashkenazi Jewish - 0 - - 1 Johan den Dunnen
+/+ _1_2i c.(?_-232)_(80+1_81-1)del r.0? p.0? - Unknown - pathogenic g.(41267797_41276033)_(41277500_?)del - -?_80+?del - BRCA1_001184 - - - - Unknown ? - - 0 - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ _1_2i c.(?_-232)_(80+1_81-1)del r.0? p.0? - Unknown - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - - - - Unknown - - - 0 - DNA MLPA - - cancer, breast - - - F - Netherlands - - 0 - - 1 Rien Blok
+/+ _1_2i c.(?_-232)_(80+1_81-1)del r.0? p.0? - Parent #1 - pathogenic g.(41267797_41276033)_(41277500_?)del - deletion exons 1-2 - BRCA1_001184 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - 0 - - 1 Juul Wijnen
+/+ _1_2i c.(?_-232)_(80+1_81-1)del r.0? p.0? - Unknown - pathogenic g.(41267797_41276033)_(41277500_?)del - -?_80+?del - BRCA1_001184 - - - - Unknown - - - 0 - DNA MLPA - - cancer, breast - - - - - Belgium - - 0 - - 1 Kathleen Claes
+/+ _1_2i c.(?_-232)_(80+1_81-1)del r.spl? p.? - Unknown kConFab pathogenic g.(41267797_41276033)_(41277500_?)del - del exons 1_2 - BRCA1_001184 - kConFab variant classification: P - - Germline - 2/1658 - 0 - DNA SEQ - - cancer, breast - - 2 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - 0 - - 2 kConFab - Heather Thorne
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