Unique variants in 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.

5029 entries on 51 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

ClassClinical     

Haplotype     

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     

Owner     
+/. 1 4i_7i c.(134+1_135-1)_(441+1_442_1)del r.? p.? 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 - - - Nerina Chrisna van der Merwe
?/. 1 _1_12i c.(?_-232)_ (4185+1_4186-1)dup r.0? p.0? VUS - g.(41234593_41242960)_(41277500_?)dup - - - BRCA1_004700 - - - - Germline - - - - - Hans Gille
+?/. 1 _1_1i c.-283_-20+188|gom r.0? p.0? likely pathogenic - g.41277100_41277551|gom - - - BRCA1_005079 - Journal: Evans 2018 - - Somatic - - - - allele methylated Johan den Dunnen
?/. 1 - c.4173T >G r.(?) p.(Ile1391Met) VUS - g.41242973A>C - 4173T>G - BRCA1_005486 - PubMed: Bhaskaran 2019 - (refs 88) - - Germline - 1/313 cases - - - Johan den Dunnen
?/., +/., -/. 15 12i_13i, (17_18) c.? r.?, c.?, r.(?) p.?, p.(fs*) VUS, pathogenic (dominant), benign, pathogenic - g.?, g.41230298_41236379dup g.43078281_43084362dup 4956A>G, 5215+268G>A, 5526+32A>T (5406+32A>T), 5587-1del8, 5587-1delGCAA TTGG, IVS2-55insG, 9 more items - MYH2_000008, BRCA1_000000, BRCA1_001349 - PubMed: Bhaskaran 2019 - (refs 1), PubMed: Bhaskaran 2019 - (refs 73), Journal: Laitman 2019, 9 more items - - Germline - 2/59 cases, 1/86 cases, 1/130 cases, 3/1365 cases, 6/430 cases, 1/118 cases, 2/82 cases, 2/139 cases, 1 more item - - - Johan den Dunnen, Eitan Friedman, Rob B. van der Luijt
+/. 1 _1_3i c.(-67790_-66331)_(134+1_135-1)del r.0? p.0? pathogenic - (41258551_41267742)_(41343599_41345058)del g.(43106534_43115725)_(43191582_43193041)del - - BRCA1_006092 - - - - Germline - - - - - Anikó Bozsik
+/. 1 _1_20i c.-59231_5278-637del r.0? p.0? pathogenic - 41203771_41336499del - NG_005905.2:g.33502_166230del - BRCA1_006086 - - - - Germline - - - - - Anikó Bozsik
+/. 2 _1_2i c.-33026_80+3829del r.? p.? pathogenic - g.41272205_41310294del g.43120188_43158277del -33026_80+3829del36935 - BRCA1_004676 - - - - Germline - - - - - Ans M.W. van den Ouweland
+/. 1 _1_2i c.-32848_80+2226del r.0? p.0? pathogenic - 41273808_41310116del - - - BRCA1_006087 - - - - Germline - - - - - Anikó Bozsik
+/. 1 _1_2i c.-32745_80+2333del r.0? p.0? pathogenic - 41273701_41310013del - - - BRCA1_006088 - - - - Germline - - - - - Anikó Bozsik
+/. 1 _1_3i c.-7775_134+3913del r.0? p.0? pathogenic - 41263830_41285043del - NG_005905.2:g.84958_106171del - BRCA1_006089 - - - - Germline - - - - - Anikó Bozsik
+/., +/+ 7 _1_2i c.-7620_80+468delins(8) r.?, r.0? p.?, p.0? pathogenic - g.41275566_41284888delins(8) - -7620_80+468delins8, -7621_80+468delins9 - BRCA1_001199 - - - - Germline, Unknown ? - - - - Ans M.W. van den Ouweland, Juul Wijnen
?/. 3 _1_2i c.-2673_80+3351dup r.? p.? VUS - 41272683_41279941dup - - - BRCA1_006090 - - - - Germline - - - - - Anikó Bozsik
-/- 1 _1 c.-2617_-2616del r.(?) p.(=) benign - g.41279884_41279885del g.43127867_43127868del - - BRCA1_004602 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
-/- 1 _1 c.-2614T>C r.(?) p.(=) benign - g.41279882A>G g.43127865A>G - - BRCA1_004601 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
-/- 1 _1 c.-2569G>T r.(?) p.(=) benign - g.41279837C>A g.43127820C>A - - BRCA1_004600 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
-/- 1 _1 c.-2502T>C r.(?) p.(=) benign - g.41279770A>G g.43127753A>G - - BRCA1_004599 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
-/- 1 _1 c.-2293C>G r.(?) p.(=) benign - g.41279561G>C g.43127544G>C - - BRCA1_004598 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
-/- 1 _1 c.-2266G>A r.(?) p.(=) benign - g.41279534C>T g.43127517C>T - - BRCA1_004597 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
-/- 1 _1 c.-2261T>C r.(?) p.(=) benign - g.41279529A>G g.43127512A>G - - BRCA1_004596 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
+/. 1 _1_3i c.(-3762_-429)_(134+1_135-1)del r.? p.? pathogenic - (41258551_41267742)_(41277697_41281030)del g.(43106534_43115725)_(43125680_43129013)del NG_005905.2:g.(88971_92304)_(102259_111450)del - BRCA1_006091 - - - - Germline - - - - - Anikó Bozsik
-/- 1 _1 c.-2030T>C r.(?) p.(=) benign - g.41279298A>G g.43127281A>G - - BRCA1_004595 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
-/- 1 _1 c.-1959C>T r.(?) p.(=) benign - g.41279227G>A g.43127210G>A - - BRCA1_004594 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
-/- 1 _1 c.-1648T>C r.(?) p.(=) benign - g.41278916A>G g.43126899A>G - - BRCA1_004593 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
-/- 1 _1 c.-1619G>A r.(?) p.(=) benign - g.41278887C>T g.43126870C>T - - BRCA1_004592 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
-/- 1 _1 c.-1465G>A r.(?) p.(=) benign - g.41278733C>T g.43126716C>T - - BRCA1_004591 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
-/- 1 _1 c.-1457G>C r.(?) p.(=) benign - g.41278725C>G g.43126708C>G - - BRCA1_004590 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
+/. 1 _1_2i c.(?_-1387-1)_(80+1_81-1)del r.0? p.0? pathogenic - g.(41267797_41276033)_(41278656_?)del - del ex1a-2 - BRCA1_004864 - PubMed: Arai 2018, Journal: Arai 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_9i c.(?_-1387-1)_(593+1_594-1)del r.0? p.0? pathogenic - g.(41247940_41249260)_(41278656_?)del - del ex1a-9 - BRCA1_004863 - PubMed: Arai 2018, Journal: Arai 2018 - - Germline - - - - - Johan den Dunnen
-/- 1 _1 c.-1109C>T r.(?) p.(=) benign - g.41278377G>A g.43126360G>A - - BRCA1_004589 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
-/- 1 _1 c.-1074C>G r.(=) p.(=) kConFab: PM - g.41278342G>C g.43126325G>C g.3565 C>G - BRCA1_002939 - kConFab variant classification: PM - - Germline - 47/1658 - - - kConFab - Heather Thorne
?/. 2 _1 c.-1044C>T r.(=) p.(=) VUS - g.41278312G>A - - - BRCA1_005321 - PubMed: Burke 2018, Journal: Burke 2018 - rs554849044 Germline - 2/6475 cases, 1/1103 controls - - - Lez J Burke
?/. 1 _1 c.-948G>A r.(=) p.(=) VUS - g.41278216C>T - - - BRCA1_005320 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 2/6475 cases - - - Lez J Burke
?/. 1 _1 c.-946G>A r.(=) p.(=) VUS - g.41278214C>T - - - BRCA1_005319 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6475 cases - - - Lez J Burke
?/. 1 _1 c.-939C>T r.(=) p.(=) VUS - g.41278207G>A - - - BRCA1_005318 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - rs941238609 Germline - 1/6475 cases - - - Lez J Burke
?/. 1 _1 c.-932T>C r.(=) p.(=) VUS - g.41278200A>G - - - BRCA1_005317 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6475 cases - - - Lez J Burke
-/- 1 _1 c.-848A>G r.(?) p.(=) benign - g.41278116T>C g.43126099T>C - - BRCA1_004588 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
-/. 2 _1 c.-730C>T r.(=) p.(=) benign - g.41277998G>A - - - BRCA1_005316 - PubMed: Burke 2018, Journal: Burke 2018 - rs73625095 Germline - 77/6475 cases, 33/1103 controls - - - Lez J Burke
-/- 1 _1 c.-728A>G r.(?) p.(=) benign - g.41277996T>C g.43125979T>C - - BRCA1_004587 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
-/. 2 _1 c.-676T>A r.(=) p.(=) benign - g.41277944A>T - - - BRCA1_005315 - PubMed: Burke 2018, Journal: Burke 2018 - rs8176072 Germline - 45/6475 cases, 10/1103 controls - - - Lez J Burke
?/. 1 _1 c.-593T>C r.(=) p.(=) VUS - g.41277861A>G - - - BRCA1_005314 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6475 cases - - - Lez J Burke
-/. 1 _1 c.-589A>G r.(=) p.(=) benign - g.41277857T>C - - - BRCA1_005313 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - rs563017140 Germline - 4/6475 cases - - - Lez J Burke
-/. 2 _1 c.-585C>A r.(=) p.(=) benign - g.41277853G>T - - - BRCA1_005312 - PubMed: Burke 2018, Journal: Burke 2018 - rs73625094 Germline - 19/6475 cases, 8/1103 controls - - - Lez J Burke
?/. 1 _1 c.-577A>G r.(=) p.(=) VUS - g.41277845T>C - - - BRCA1_005311 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6475 cases - - - Lez J Burke
?/. 1 _1 c.-516A>C r.(=) p.(=) VUS - g.41277784T>G - - - BRCA1_005310 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6475 cases - - - Lez J Burke
-/. 1 _1 c.-497G>A r.(=) p.(=) benign - g.41277765C>T - - - BRCA1_005309 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - rs8176074 Germline - 3/6475 cases - - - Lez J Burke
?/. 2 _1 c.-408T>A r.=, r.(=) p.=, p.(=) NA, VUS - g.41277676A>T - - - BRCA1_005308 expression cloning luciferase assay no effect, not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned), Germline - 1/6475 cases - - - Lez J Burke
?/. 2 _1 c.-380G>A r.=, r.(=) p.=, p.(=) NA, VUS - g.41277648C>T - - - BRCA1_005307 expression cloning luciferase assay no effect, not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned), Germline - 3/6475 cases - - - Lez J Burke
?/. 2 _1 c.-378C>A r.=, r.(=) p.=, p.(=) NA, VUS - g.41277646G>T - - - BRCA1_005306 expression cloning luciferase assay no effect, not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - rs186775935 In vitro (cloned), Germline - 1/6475 cases - - - Lez J Burke
-?/. 1 _1 c.-371G>T r.(=) p.(=) likely benign - g.41277639C>A - - - BRCA1_005305 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6475 cases - - - Lez J Burke
?/. 1 _1 c.-366C>T r.(=) p.(=) VUS - g.41277634G>A - - - BRCA1_005304 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 2/6475 cases - - - Lez J Burke
+?/., ?/. 2 1, _1 c.-315del r.(=) p.(=) NA, VUS - g.41277583del - - - BRCA1_005303 expression cloning luciferase assay 0.7x decreased (MCF7 cells), not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - rs901029407 In vitro (cloned), Germline - 1/6475 cases - - - Lez J Burke
+?/., ?/. 2 1, _1 c.-287C>T r.(=) p.(=) NA, VUS - g.41277555G>A - - - BRCA1_005302 expression cloning luciferase assay 1.5x increased (MCF7 cells), not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned), Germline - 1/6475 cases - - - Lez J Burke
?/., -/- 3 1, _1 c.-273G>A r.=, r.(?), r.(=) p.=, p.(=) NA, benign - g.41277541C>T g.43125524C>T - - BRCA1_004586 expression cloning luciferase assay no effect, not in 1103 controls, 1 more item PubMed: Burke 2018, Journal: Burke 2018, ENIGMA classification criteria - rs112960339 In vitro (cloned), SUMMARY record, Germline - 4/6475 cases - - - Lez J Burke, ENIGMA consortium
?/. 2 1, _1 c.-264T>G r.=, r.(=) p.=, p.(=) NA, VUS - g.41277532A>C - - - BRCA1_005301 expression cloning luciferase assay no effect, not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - rs904148166 In vitro (cloned), Germline - 1/6475 cases - - - Lez J Burke
+/. 3 _1_2i c.-232-31433_80+4171del r.? p.? pathogenic - g.41271863_41308933del - - - BRCA1_005065 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/. 2 _1_1i c.(?_-232)_(-20+1_-19-1)del r.0? p.0? pathogenic - g.(41276133_41277287)_(41277500_?)del - c.-232-?_-19+?del - BRCA1_001656 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/., +/+ 6 _1_2i c.(?_-232)_(80+1_81-1)del r.?, r.0? p.?, p.0? pathogenic - g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del, -?_80+?del - BRCA1_003033, BRCA1_001184 - Journal: Rebbeck 2018 - - Germline, Unknown ? - - - - Arjen Mensenkamp, Johan den Dunnen, Genevieve Michils
?/. 1 _1_2i c.(?_-232)_(80+1_81-1)del r.0? p.0? VUS (*) - g.(41267797_41276033)_(41277500_?)del - - - BRCA1_001184 1 more item UK Variant Sharing Initiative - - CLASSIFICATION record - 1 case - - - UK Variant Sharing Initiative - Clare Turnbull
+/., +/+ 9 _1_2i c.(?_-232)_(80+1_81-1)del r.0? p.0? pathogenic, pathogenic (dominant) - g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del, ex1-2 del, LRG_292:g.(?_ 93968)del, -?_80+?del, deletion exons 1-2 - BRCA1_001184 - Journal: Rebbeck 2018, PubMed: Stegel 2011, Van Der Merwe 2020, submitted - - Germline, Unknown - 1/744 cases - - - Johan den Dunnen, Nerina Chrisna van der Merwe, Kathleen Claes, Juul Wijnen
+/., +/+ 5 _1_2i c.(?_-232)_(80+1_81-1)del r.0? p.0? pathogenic, pathogenic (dominant) - g.(41267797_41276033)_(41277500_?)del - c.(?_-4600)_(249+1_250-1)del, ex1A-2 del, c.-232-?_80+?del - BRCA1_001184 - PubMed: Fostira 2020, PubMed: Al-Mulla 2009, Journal: Rebbeck 2018 - - Germline, Unknown - - - - - Florentia Fostira, Johan den Dunnen, Rien Blok
+/., +/+ 8 _1_2i c.(?_-232)_(80+1_81-1)del r.0?, r.spl? p.0?, p.? pathogenic (dominant), pathogenic, kConFab: P - g.(41267797_41276033)_(41277500_?)del - 0_80, c.-232-?_80+?del, del exons 1_2, del exons 1 & 2 - BRCA1_001184, BRCA1_003033 - PubMed: Lecarpentier 2012, Journal: Rebbeck 2018, kConFab variant classification: P - - Germline - 2/1658 - - - Johan den Dunnen, kConFab - Heather Thorne, Florentia Fostira
?/. 1 _1_2i c.(?_-232)_(80+1_81-1)dup r.? p.? VUS (*) - g.(41267797_41276033)_(41277500_?)dup - - - BRCA1_005085 1 more item UK Variant Sharing Initiative - - CLASSIFICATION record - 1 case - - - UK Variant Sharing Initiative - Clare Turnbull
+/+ 1 _1_2i c.(?_-232)_(80+1_81-1)dup r.0? p.0? pathogenic - g.(41267797_41276033)_(41277500_?)dup - duplication exons 1-2 - BRCA1_005085 - - - - Unknown - - - - - Pascale Hilbert
?/. 1 _1_2i c.(?_-232)_(80+1_81-1)dup r.? p.? VUS - g.(41267797_41276033)_(41277500_?)dup - c.-232-?_80+?dup - BRCA1_005085 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_2i c.(?_-232)_(80+1_81-1)dup r.? p.? pathogenic (dominant) - g.(41267797_41276033)_(41277500_?)dup - Exon1-2dup - BRCA1_005085 - Journal: Gao 2020 as reported in: PubMed: Guan 2015 - - Germline - 1 families/patients - - - Xianqi Gao
+/., +/+ 7 _1_3i c.(?_-232)_(134+1_135-1)del r.0? p.0? pathogenic - g.(41258551_41267742)_(41277500_?)del - c.-232-?_134+?del, deletion exons 1-3 - BRCA1_000574 - Journal: Rebbeck 2018 - - Germline, Unknown - - - - - Johan den Dunnen, Pascale Hilbert
+/+, +/. 10 _1_7i c.(?_-232)_(441+1_442-1)del r.0?, r.spl? p.0?, p.? pathogenic, kConFab: P - g.(41251898_41256138)_(41277500_?)del - c.-232-?_441+?del, del exons 1_7 - BRCA1_000572, BRCA1_002925 - Journal: Rebbeck 2018, kConFab variant classification: P - - Unknown, Germline ? 1/1658 - - - Rien Blok, Johan den Dunnen, kConFab - Heather Thorne
+/. 1 _1_8i c.(?_-232)_(547+1_548-1)del r.0? p.0? pathogenic (dominant) - g.(41249307_41251791)_(41277500_?)del - Del:1-8 - BRCA1_005868 - Journal: Gao 2020 as reported in: PubMed: Kwong 2015, Journal: Kwong 2015 - - Germline - 1 families/patients - - - Xianqi Gao
+/. 1 _1_11i c.(?_-232)_(4096+1_4097-1)del r.0? p.0? pathogenic - g.(41243050_41243451)_(41277500_?)del - c.-232-?_4096+?del - BRCA1_004992 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/., +/+ 6 _1_12i c.(?_-232)_(4185+1_4186-1)del r.0?, r.spl? p.0?, p.? pathogenic, pathogenic (dominant), kConFab: P - g.(41234593_41242960)_(41277500_?)del - c.-232-?_4185+?del, Del:1-12, del exons 1_12 - BRCA1_002915, BRCA1_001492 - Journal: Rebbeck 2018, Journal: Gao 2020 as reported in: PubMed: Kwong 2015, Journal: Kwong 2015, 1 more item - - Germline - 1 families/patients, 1/1658 - - - Johan den Dunnen, Xianqi Gao, kConFab - Heather Thorne
+/+, +/. 7 _1_13i c.(?_-232)_(4357+1_4358-1)del r.0? p.0? pathogenic - g.(41234593_41242960)_(41277500_?)del, g.(41228632_41234420)_(41277500_?)del - ex1-13 del, c.-232-?_4357+?del, -232-?_4357+?del - BRCA1_001492 - Journal: Rebbeck 2018 - - Unknown, Germline ? - - - - Marjolijn JL Ligtenberg, Ans M.W. van den Ouweland, Johan den Dunnen
+/. 3 _1_14i c.(?_-232)_(4484+1_4485-1)del r.0? p.0? pathogenic - g.(41226539_41228504)_(41277500_?)del - c.-232-?_4484+?del - BRCA1_004968 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/+, ?/., +/. 11 _1_17i c.(?_-232)_(5074+1_5075-1)del r.0?, r.spl? p.0?, p.? pathogenic, VUS (*), pathogenic (dominant), kConFab: P - g.(41215969_41219624)_(41277500_?)del - c.-232-?_5074+?del, Exon1-17del, del exons 1_17 - BRCA1_001112, BRCA1_002889 1 more item UK Variant Sharing Initiative, Journal: Rebbeck 2018, kConFab variant classification: P, 1 more item - - Unknown, CLASSIFICATION record, Germline ? 1 case, 1 families/patients, 4/1658 - - - Frans BL Hogervorst, UK Variant Sharing Initiative - Clare Turnbull, Johan den Dunnen, Xianqi Gao, kConFab - Heather Thorne
+/. 1 _1_19i c.(?_-232)_(5193+1_5194-1)del r.0? p.0? pathogenic - g.(41209153_41215349)_(41277500_?)del - c.-232-?_5193+?del - BRCA1_004917 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/+ 1 _1_20i c.(?_-232)_(5277+1_5278-1)del r.spl? p.? kConFab: P - g.(41203135_41209068)_(41277500_?)del - del exons 1_20 - BRCA1_002884 - kConFab variant classification: P - - Germline - 1/1658 - - - kConFab - Heather Thorne
+/. 2 _1_21i c.(?_-232)_(5332+1_5333-1)del r.0? p.0? pathogenic - g.(41201212_41203079)_(41277500_?)del - c.-232-?_5332+?del - BRCA1_001664 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/. 2 _1_22i c.(?_-232)_(5406+1_5407-1)del r.0? p.0? pathogenic - g.(41199721_41201137)_(41277500_?)del - c.-232-?_5406+?del - BRCA1_001596 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_22i c.(?_-232)_(5406+1_5407-1)dup r.0? p.0? pathogenic - g.(41199721_41201137)_(41277500_?)dup - c.-232-?_5406+?dup - BRCA1_004885 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/+, ?/., +/. 6 _1_23i c.(?_-232)_(5467+1_5468-1)del r.0? p.0? pathogenic, VUS (*), pathogenic (dominant) - g.(41197820_41199659)_(41277500_?)del - c.-232-?_5467+?del, 0_5407 - BRCA1_001214 1 more item UK Variant Sharing Initiative, Journal: Rebbeck 2018, PubMed: Lecarpentier 2012 - - Unknown, CLASSIFICATION record, Germline ? 1 case - - - Genevieve Michils, Juul Wijnen, UK Variant Sharing Initiative - Clare Turnbull, Johan den Dunnen
+/+, +/. 31 _1_24_ c.(?_-232)_(*1383_?)del r.0?, r.0, r.?, r.spl? p.0?, p.0, p.? pathogenic, pathogenic (dominant), kConFab: LGR - g.(?_41196312)_(41277500_?)del - c.-232-?_5592+?del, deletion whole BRCA1 gene, total deletion, (?_-48)_(*1_?)del, del exons 1_23 - BRCA1_001598, BRCA1_002986 deletion includes NBR2 gene Journal: Rebbeck 2018, Van Der Merwe 2020, submitted, PubMed: Lecarpentier 2012, 1 more item - - Unknown, Germline ? 1/1900 cases, 1/744 cases, 4/1658 - - - Ans M.W. van den Ouweland, Genevieve Michils, Juul Wijnen, Marjolijn JL Ligtenberg, Rob B. van der Luijt, Frans BL Hogervorst, Johan den Dunnen, Arjen Mensenkamp, Karin Segers, Pascale Hilbert, Angela Solano & F Cardoso, Nerina Chrisna van der Merwe, kConFab - Heather Thorne
?/. 2 1 c.-220C>A r.=, r.(?) p.=, p.(=) NA, VUS - g.41277488G>T - - - BRCA1_005300 expression cloning luciferase assay no effect, not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned), Germline - 1/6475 cases - - - Lez J Burke
-?/. 1 - c.-219G>A r.(?) p.(=) likely benign - g.41277487C>T - - - BRCA1_005780 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/., -/-, -?/. 4 1 c.-192T>C r.(=), r.(?) p.(=) NA, benign, likely benign - g.41277460A>G g.43125443A>G - - BRCA1_004585 expression cloning luciferase assay 0.7x decreased (MCF7 cells), not in 1103 controls, 2 more items PubMed: Burke 2018, Journal: Burke 2018, ENIGMA classification criteria - rs113323025 In vitro (cloned), SUMMARY record, CLASSIFICATION record, Germline - 4/6475 cases - - - Lez J Burke, ENIGMA consortium, VKGL-NL_Nijmegen
?/?, -?/. 2 1 c.-175T>C r.(?) p.?, p.(=) VUS, likely benign - g.41277443A>G g.43125426A>G - - BRCA1_001404 VKGL data sharing initiative Nederland - - - Unknown, CLASSIFICATION record ? - - - - Marjolijn JL Ligtenberg, VKGL-NL_Nijmegen
-?/., ?/. 2 1 c.-121G>C r.(?) p.(=) likely benign, VUS - g.41277389C>G - - - BRCA1_004861 VKGL data sharing initiative Nederland, not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - CLASSIFICATION record, Germline - 2/6475 cases - - - VKGL-NL_Nijmegen, Lez J Burke
-?/. 1 - c.-116C>T r.(?) p.(=) likely benign - g.41277384G>A - - - BRCA1_005752 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 1 c.-114C>T r.(?) p.(=) likely benign - g.41277382G>A - - - BRCA1_004860 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 1 c.-107A>T r.0? p.0? pathogenic B1 g.41277375T>A g.43125358T>A - - BRCA1_005077 - Journal: Evans 2018 - - Germline yes - - - - Elke M van Veen
-?/. 1 1 c.-105T>G r.(?) p.(=) likely benign - g.41277373A>C - - - BRCA1_005299 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 3/6475 cases - - - Lez J Burke
-?/. 1 - c.-96G>T r.(?) p.(=) likely benign - g.41277364C>A - - - BRCA1_005751 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 1 c.-93G>A r.(?) p.(=) likely benign - g.41277361C>T - - - BRCA1_004859 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/., ?/?, -?/., -/. 14 1 c.-86C>T r.(?), r.(=) p.?, p.(=) VUS, likely benign, benign - g.41277354G>A g.43125337G>A BRCA1(NM_007294.3):c.-86C>T - BRCA1_001403 VKGL data sharing initiative Nederland PubMed: Burke 2018, Journal: Burke 2018 - rs143160357 Unknown, CLASSIFICATION record, Germline ? 18/6475 cases, 7/1103 controls - - - Juul Wijnen, Marjolijn JL Ligtenberg, VKGL-NL_Nijmegen, Lez J Burke, Arjen Mensenkamp, Rien Blok, VKGL-NL_NKI
-?/. 1 - c.-82G>A r.(?) p.(=) likely benign - g.41277350C>T - - - BRCA1_005750 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 1 c.-71G>A r.(?) p.(=) VUS - g.41277339C>T - - - BRCA1_005298 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 7/6475 cases - - - Lez J Burke
?/?, ?/. 5 1 c.-66C>G r.(?) p.(=), p.? VUS - g.41277334G>C g.43125317G>C - - BRCA1_001402 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Unknown, Germline ? 1/6475 cases - - - Marjolijn JL Ligtenberg, Arjen Mensenkamp, Lez J Burke
?/?, ?/., -?/. 3 1 c.-61C>T r.(?) p.(=) VUS, likely benign - g.41277329G>A g.43125312G>A - - BRCA1_001401 not in 1103 controls, VKGL data sharing initiative Nederland PubMed: Burke 2018, Journal: Burke 2018 - rs549332987 Unknown, Germline, CLASSIFICATION record ? 1/6475 cases - - - Marjolijn JL Ligtenberg, Lez J Burke, VKGL-NL_Nijmegen
-/. 1 - c.-57_-55del r.(?) p.(=) benign - g.41277324_41277326del - BRCA1(NM_007294.3):c.-58_-56delTGT - BRCA1_005749 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/?, ?/., -?/. 9 1 c.-54G>A r.(?) p.(=), p.? VUS, likely benign - g.41277322C>T g.43125305C>T - - BRCA1_000600 VKGL data sharing initiative Nederland, not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Unknown, CLASSIFICATION record, Germline ? 1/6475 cases - - - Arjen Mensenkamp, Juul Wijnen, VKGL-NL_Nijmegen, Katrien Storm, Lez J Burke
+/. 2 1i_2i c.(?_-48-1)_(80+1_81-1)del r.0? p.0? pathogenic - g.(41267797_41276033)_(41277316_?)del - - - BRCA1_004726 - - - - Germline - - - - - Hans Gille
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