Unique variants in the BRCA1 gene

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.

5627 entries on 57 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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     

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
+/., -/., ?/. 14 (17_18) c.? r.(?), r.? p.(fs*), p.? - - benign, pathogenic, pathogenic (dominant), VUS g.? - 1405_1406delGA, 3318C>A, 4956A>G, 5090_5093delGTTA (Leu1697fs), 5154delTTTTC, 5215+268G>A, 8 more items - BRCA1_000000, MYH2_000008 - Journal: Laitman 2019, PubMed: Bhaskaran 2019 - (refs 1), PubMed: Bhaskaran 2019 - (refs 12), 9 more items - - Germline - 1/118 cases, 1/130 cases, 1/86 cases, 2/139 cases, 2/489 cases, 2/59 cases, 2/82 cases, 3/1365 cases, 1 more item - - - Johan den Dunnen, Eitan Friedman
+/. 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 g.41203798_41336526del g.43051781_43184509del 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 g.41273870_41310178del g.43121853_43158161del - - BRCA1_006087 - - - - Germline - - - - - Anikó Bozsik
+/. 1 _1_2i c.-32745_80+2333del r.0? p.0? - - pathogenic g.41273718_41310030del g.43121701_43158013del - - BRCA1_006088 - - - - Germline - - - - - Anikó Bozsik
+/. 1 _1_3i c.-7775_134+3913del r.0? p.0? - - pathogenic g.41263834_41285047del g.43111817_43133030del NG_005905.2:g.84958_106171del - BRCA1_006089 - - - - Germline - - - - - Anikó Bozsik
+/+, +/. 7 _1_2i c.-7620_80+468delins(8) r.0?, r.? p.0?, p.? - - 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 g.41272731_41279989dup g.43120714_43127972dup - - 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
+/. 2 _1_2i c.(?_-1387-1)_(80+1_81-1)del r.0? p.0? - - pathogenic, pathogenic (dominant) g.(41267797_41276033)_(41278656_?)del - del ex1a-2 - BRCA1_004864 - PubMed: Arai 2018, Journal: Arai 2018, PubMed: Santonocito 2020 - - Germline - 3/2351 cases - - - 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 benign 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 g.43126295G>A - - BRCA1_005321 - PubMed: Burke 2018, Journal: Burke 2018 - rs554849044 Germline - 1/1103 controls, 2/6475 cases - - - Lez J Burke
?/. 1 _1 c.-948G>A r.(=) p.(=) - - VUS g.41278216C>T g.43126199C>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 g.43126197C>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 g.43126190G>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 g.43126183A>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 g.43125981G>A - - BRCA1_005316 - PubMed: Burke 2018, Journal: Burke 2018 - rs73625095 Germline - 33/1103 controls, 77/6475 cases - - - 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 g.43125927A>T - - BRCA1_005315 - PubMed: Burke 2018, Journal: Burke 2018 - rs8176072 Germline - 10/1103 controls, 45/6475 cases - - - Lez J Burke
?/. 1 _1 c.-593T>C r.(=) p.(=) - - VUS g.41277861A>G g.43125844A>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 g.43125840T>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 g.43125836G>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 g.43125828T>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 g.43125767T>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 g.43125748C>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 g.43125659A>T - - BRCA1_005308 expression cloning luciferase assay no effect, not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline, In vitro (cloned) - 1/6475 cases - - - Lez J Burke
?/. 2 _1 c.-380G>A r.(=), r.= p.(=), p.= - - NA, VUS g.41277648C>T g.43125631C>T - - BRCA1_005307 expression cloning luciferase assay no effect, not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline, In vitro (cloned) - 3/6475 cases - - - Lez J Burke
?/. 2 _1 c.-378C>A r.(=), r.= p.(=), p.= - - NA, VUS g.41277646G>T g.43125629G>T - - BRCA1_005306 expression cloning luciferase assay no effect, not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - rs186775935 Germline, In vitro (cloned) - 1/6475 cases - - - Lez J Burke
-?/. 1 _1 c.-371G>T r.(=) p.(=) - - likely benign g.41277639C>A g.43125622C>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 g.43125617G>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.41277586del g.43125569del - - BRCA1_005303 expression cloning luciferase assay 0.7x decreased (MCF7 cells), not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - rs901029407 Germline, In vitro (cloned) - 1/6475 cases - - - Lez J Burke
+?/., ?/. 2 1, _1 c.-287C>T r.(=) p.(=) - - NA, VUS g.41277555G>A g.43125538G>A - - BRCA1_005302 expression cloning luciferase assay 1.5x increased (MCF7 cells), not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline, In vitro (cloned) - 1/6475 cases - - - Lez J Burke
+?/. 2 _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
-/-, ?/. 3 1, _1 c.-273G>A r.(=), r.(?), r.= p.(=), p.= - - benign, NA g.41277541C>T g.43125524C>T - - BRCA1_004586 expression cloning luciferase assay no effect, not in 1103 controls, 1 more item ENIGMA classification criteria, PubMed: Burke 2018, Journal: Burke 2018 - rs112960339 Germline, In vitro (cloned), SUMMARY record - 4/6475 cases - - - ENIGMA consortium, Lez J Burke
?/. 2 1, _1 c.-264T>G r.(=), r.= p.(=), p.= - - NA, VUS g.41277532A>C g.43125515A>C - - BRCA1_005301 expression cloning luciferase assay no effect, not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - rs904148166 Germline, In vitro (cloned) - 1/6475 cases - - - Lez J Burke
+/. 3 _1_2i c.-232-31433_80+4171del r.? p.? - - pathogenic g.41271863_41308933del g.43119846_43156916del - - 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
+/+, +/., ?/. 29 _1_2i c.(?_-232)_(80+1_81-1)del r.0?, r.?, r.spl? p.0?, p.? - kConFab pathogenic, pathogenic (dominant), unclassified g.(41267797_41276033)_(41277500_?)del - -?_80+?del, 0_80, c.(?_-4600)_(249+1_250-1)del, c.-232-?_80+?del, del exons 1 & 2, del exons 1_2, 4 more items - BRCA1_001184, BRCA1_003033 1 more item UK Variant Sharing Initiative, Van Der Merwe 2020, submitted, Journal: Rebbeck 2018, 5 more items - - CLASSIFICATION record, Germline, Unknown ? 1 case, 1/744 cases, 2/1658 - - - Johan den Dunnen, Arjen Mensenkamp, Genevieve Michils, Juul Wijnen, Kathleen Claes, Rien Blok, Florentia Fostira, kConFab - Heather Thorne, UK Variant Sharing Initiative, Nerina Chrisna van der Merwe
+/+, +/., ?/. 4 _1_2i c.(?_-232)_(80+1_81-1)dup r.0?, r.? p.0?, p.? - - pathogenic, pathogenic (dominant), unclassified, VUS g.(41267797_41276033)_(41277500_?)dup - c.-232-?_80+?dup, duplication exons 1-2, Exon1-2dup - BRCA1_005085 1 more item UK Variant Sharing Initiative, Journal: Gao 2020 as reported in: PubMed: Guan 2015, 1 more item - - CLASSIFICATION record, Germline, Unknown - 1 case, 1 families/patients - - - Johan den Dunnen, Pascale Hilbert, UK Variant Sharing Initiative, 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.? - kConFab pathogenic g.(41251898_41256138)_(41277500_?)del - c.-232-?_441+?del, del exons 1_7 - BRCA1_000572, BRCA1_002925 - Journal: Rebbeck 2018, kConFab variant classification: P - - Germline, Unknown ? 1/1658 - - - Johan den Dunnen, Rien Blok, 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
+/. 2 _1_11i c.(?_-232)_(4096+1_4097-1)del r.0? p.0? - - pathogenic, pathogenic (dominant) g.(41243050_41243451)_(41277500_?)del - c.-232-?_4096+?del - BRCA1_004992 - Journal: Rebbeck 2018, PubMed: Santonocito 2020 - - Germline - 1/2351 cases - - - Johan den Dunnen
+/+, +/. 6 _1_12i c.(?_-232)_(4185+1_4186-1)del r.0?, r.spl? p.0?, p.? - kConFab pathogenic, pathogenic (dominant) g.(41234593_41242960)_(41277500_?)del - c.-232-?_4185+?del, del exons 1_12, Del:1-12 - BRCA1_001492, BRCA1_002915 - Journal: Gao 2020 as reported in: PubMed: Kwong 2015, Journal: Kwong 2015, Journal: Rebbeck 2018, 1 more item - - Germline - 1 families/patients, 1/1658 - - - Johan den Dunnen, kConFab - Heather Thorne, Xianqi Gao
+/+, +/. 7 _1_13i c.(?_-232)_(4357+1_4358-1)del r.0? p.0? - - pathogenic g.(41228632_41234420)_(41277500_?)del, g.(41234593_41242960)_(41277500_?)del - -232-?_4357+?del, c.-232-?_4357+?del, ex1-13 del - BRCA1_001492 - Journal: Rebbeck 2018 - - Germline, Unknown ? - - - - Johan den Dunnen, Ans M.W. van den Ouweland, Marjolijn JL Ligtenberg
+/. 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.? - kConFab pathogenic, pathogenic (dominant), unclassified g.(41215969_41219624)_(41277500_?)del - c.-232-?_5074+?del, del exons 1_17, Exon1-17del - BRCA1_001112, BRCA1_002889 1 more item UK Variant Sharing Initiative, Journal: Gao 2020 as reported in: PubMed: Wu 2017, Journal: Wu 2017, 2 more items - - CLASSIFICATION record, Germline, Unknown ? 1 case, 1 families/patients, 4/1658 - - - Johan den Dunnen, Frans BL Hogervorst, kConFab - Heather Thorne, UK Variant Sharing Initiative, Xianqi Gao
+/. 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 pathogenic 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, pathogenic (dominant), unclassified g.(41197820_41199659)_(41277500_?)del - 0_5407, c.-232-?_5467+?del - BRCA1_001214 1 more item UK Variant Sharing Initiative, Journal: Rebbeck 2018, PubMed: Lecarpentier 2012 - - CLASSIFICATION record, Germline, Unknown ? 1 case - - - Johan den Dunnen, Genevieve Michils, Juul Wijnen, UK Variant Sharing Initiative
+/+, +/. 31 _1_24_ c.(?_-232)_(*1383_?)del r.0, r.0?, r.?, r.spl? p.0, p.0?, p.? - kConFab likely pathogenic, pathogenic, pathogenic (dominant) g.(?_41196312)_(41277500_?)del - (?_-48)_(*1_?)del, c.-232-?_5592+?del, del exons 1_23, deletion whole BRCA1 gene, total deletion - BRCA1_001598, BRCA1_002986 deletion includes NBR2 gene Van Der Merwe 2020, submitted, Journal: Rebbeck 2018, kConFab variant classification: LGR, 1 more item - - Germline, Unknown ? 1/1900 cases, 1/744 cases, 4/1658 - - - Johan den Dunnen, Pascale Hilbert, Rob B. van der Luijt, Arjen Mensenkamp, Ans M.W. van den Ouweland, Frans BL Hogervorst, Genevieve Michils, Juul Wijnen, Marjolijn JL Ligtenberg, Karin Segers, kConFab - Heather Thorne, Angela Solano & F Cardoso, Nerina Chrisna van der Merwe
?/. 2 1 c.-220C>A r.(?), r.= p.(=), p.= - - NA, VUS g.41277488G>T g.43125471G>T - - BRCA1_005300 expression cloning luciferase assay no effect, not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline, In vitro (cloned) - 1/6475 cases - - - Lez J Burke
-?/. 1 - c.-219G>A r.(?) p.(=) - - likely benign g.41277487C>T g.43125470C>T - - BRCA1_005780 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/., -/-, -/., -?/. 5 1 c.-192T>C r.(=), r.(?) p.(=) - - benign, likely benign, NA g.41277460A>G g.43125443A>G BRCA1(NM_007294.3):c.-192T>C - BRCA1_004585 expression cloning luciferase assay 0.7x decreased (MCF7 cells), not in 1103 controls, 2 more items ENIGMA classification criteria, PubMed: Burke 2018, Journal: Burke 2018 - rs113323025 CLASSIFICATION record, Germline, In vitro (cloned), SUMMARY record - 4/6475 cases - - - ENIGMA consortium, VKGL-NL_Nijmegen, VKGL-NL_NKI, Lez J Burke
-?/., ?/? 2 1 c.-175T>C r.(?) p.(=) - - likely benign, VUS g.41277443A>G g.43125426A>G - - BRCA1_001404 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown ? - - - - Marjolijn JL Ligtenberg, VKGL-NL_Nijmegen
-?/. 1 - c.-134G>A r.(?) p.(=) - - likely benign g.41277402C>T - - - BRCA1_006127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 1 c.-121G>C r.(?) p.(=) - - likely benign, VUS g.41277389C>G g.43125372C>G - - BRCA1_004861 not in 1103 controls, VKGL data sharing initiative Nederland 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 g.43125367G>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 g.43125365G>A - - BRCA1_004860 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 1 c.-107A>T r.0? p.0? B1 - pathogenic 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 g.43125356A>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 g.43125347C>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 g.43125344C>T - - BRCA1_004859 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/., ?/., ?/? 14 1 c.-86C>T r.(=), r.(?) p.(=) - - benign, likely benign, VUS 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 CLASSIFICATION record, Germline, Unknown ? 18/6475 cases, 7/1103 controls - - - Arjen Mensenkamp, Juul Wijnen, Marjolijn JL Ligtenberg, Rien Blok, VKGL-NL_Nijmegen, VKGL-NL_NKI, Lez J Burke
-?/. 1 - c.-82G>A r.(?) p.(=) - - likely benign g.41277350C>T g.43125333C>T - - BRCA1_005750 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 1 c.-71G>A r.(?) p.(=) - - VUS g.41277339C>T g.43125322C>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.(=) - - VUS g.41277334G>C g.43125317G>C - - BRCA1_001402 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline, Unknown ? 1/6475 cases - - - Arjen Mensenkamp, Marjolijn JL Ligtenberg, Lez J Burke
-?/., ?/., ?/? 4 1 c.-61C>T r.(?) p.(=) - - likely benign, VUS g.41277329G>A g.43125312G>A BRCA1(NM_007294.3):c.-61C>T - BRCA1_001401 not in 1103 controls, VKGL data sharing initiative Nederland PubMed: Burke 2018, Journal: Burke 2018 - rs549332987 CLASSIFICATION record, Germline, Unknown ? 1/6475 cases - - - Marjolijn JL Ligtenberg, VKGL-NL_Nijmegen, VKGL-NL_NKI, Lez J Burke
-/. 1 - c.-57_-55del r.(?) p.(=) - - benign g.41277324_41277326del g.43125307_43125309del 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.(=) - - likely benign, VUS g.41277322C>T g.43125305C>T - - BRCA1_000600 not in 1103 controls, VKGL data sharing initiative Nederland PubMed: Burke 2018, Journal: Burke 2018 - - CLASSIFICATION record, Germline, Unknown ? 1/6475 cases - - - Arjen Mensenkamp, Juul Wijnen, Katrien Storm, VKGL-NL_Nijmegen, 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
?/. 1 1 c.-41_-40dup r.(?) p.(=) - - VUS g.41277308_41277309dup g.43125291_43125292dup - - BRCA1_005297 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 2/6475 cases - - - Lez J Burke
-?/. 2 1 c.-40C>T r.(?) p.(=) - - likely benign g.41277308G>A g.43125291G>A BRCA1(NM_007294.3):c.-40C>T - BRCA1_004858 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_NKI
-/. 1 1 c.-39_-38del r.(?) p.(=) - - benign g.41277307_41277308del g.43125290_43125291del BRCA1(NM_007294.3):c.-39_-38delAT - BRCA1_004826 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 1 1 c.-29T>C r.(?) p.(=) - - VUS g.41277297A>G g.43125280A>G - - BRCA1_001400 1 more item - - - Unknown ? - - - - Juul Wijnen
?/. 1 1 c.-24T>C r.(?) p.(=) - - VUS g.41277292A>G g.43125275A>G - - BRCA1_005296 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6475 cases - - - Lez J Burke
+/. 6 1i_2i c.(-20+1_-19-1)_(80+1_81-1)del r.? p.0?, p.? - - pathogenic g.(41267797_41276033)_(41276133_41277287)del - c.-19-?_80+?del - BRCA1_001686 - Journal: Rebbeck 2018 - - Germline - 1/1900 cases - - - Johan den Dunnen, Angela Solano & F Cardoso
+/. 3 1i_2i c.(-20+1_-19-1)_(80+1_81-1)dup r.? p.0? - - pathogenic g.(41267797_41276033)_(41276133_41277287)dup - c.-19-?_80+?dup - BRCA1_005071 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
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