Unique variants in gene BRCA1

All records describing functional studies of specific variants.
Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
Information The variants shown are described using the NM_007294.3 transcript reference sequence.

4593 entries on 46 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 _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 - c.*31G>A r.(?) p.(=) VUS - g.41197664C>T - 5711+31G>A, 5592*31G>A - BRCA1_005426 - PubMed: Bhaskaran 2019 - (refs 2) - - Germline - 1/130 cases - - - Johan den Dunnen
+?/. 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
+/. 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
+/., +/+ 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
-/- 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 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
+/., +/+ 7 _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, -?_80+?del, deletion exons 1-2 - BRCA1_001184 - Journal: Rebbeck 2018, PubMed: Stegel 2011 - - Germline, Unknown - - - - - Johan den Dunnen, Kathleen Claes, Juul Wijnen
+/., +/+ 12 _1_2i c.(?_-232)_(80+1_81-1)del r.0?, r.spl? p.0?, p.? pathogenic, pathogenic (dominant), kConFab: P - g.(41267797_41276033)_(41277500_?)del - c.(?_-4600)_(249+1_250-1)del, ex1A-2 del, c.-232-?_80+?del, del exons 1_2, del exons 1 & 2 - BRCA1_001184, BRCA1_003033 - Fostira 2019, submitted, PubMed: Al-Mulla 2009, Journal: Rebbeck 2018, 1 more item - - Germline, Unknown - 2/1658 - - - Florentia Fostira, Johan den Dunnen, Rien Blok, kConFab - Heather Thorne
+/+ 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
+/., +/+ 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_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
+/., +/+ 5 _1_12i c.(?_-232)_(4185+1_4186-1)del r.0?, r.spl? p.0?, p.? pathogenic, kConFab: P - g.(41234593_41242960)_(41277500_?)del - c.-232-?_4185+?del, del exons 1_12 - BRCA1_002915 - Journal: Rebbeck 2018, kConFab variant classification: P - - Germline - 1/1658 - - - Johan den Dunnen, 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
+/+, +/. 9 _1_17i c.(?_-232)_(5074+1_5075-1)del r.0?, r.spl? p.0?, p.? pathogenic, kConFab: P - g.(41215969_41219624)_(41277500_?)del - c.-232-?_5074+?del, del exons 1_17 - BRCA1_001112, BRCA1_002889 - Journal: Rebbeck 2018, kConFab variant classification: P - - Unknown, Germline ? 4/1658 - - - Frans BL Hogervorst, Johan den Dunnen, 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
+/+, +/. 4 _1_23i c.(?_-232)_(5467+1_5468-1)del r.0? p.0? pathogenic - g.(41197820_41199659)_(41277500_?)del - c.-232-?_5467+?del - BRCA1_001214 - Journal: Rebbeck 2018 - - Unknown, Germline ? - - - - Genevieve Michils, Juul Wijnen, Johan den Dunnen
+/+, +/. 29 _1_24_ c.(?_-232)_(*1_?)del r.0?, r.0, r.?, r.spl? p.0?, p.0, p.? pathogenic, kConFab: LGR - g.(?_41197694)_(41277500_?)del - c.-232-?_5592+?del, deletion whole BRCA1 gene, (?_-48)_(*1_?)del, del exons 1_23 - BRCA1_001598, BRCA1_002986 - Journal: Rebbeck 2018, kConFab variant classification: LGR - - Unknown, Germline ? 1/1900 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, 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
+?/., -/-, -?/. 4 1 c.-192T>C r.(=), r.(?) p.(=) NA, benign, likely benign - 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 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
?/? 1 1 c.-175T>C r.(?) p.? VUS - g.41277443A>G g.43125426A>G - - BRCA1_001404 - - - - Unknown ? - - - - Marjolijn JL Ligtenberg
-?/. 1 1 c.-163_-162delinsCT r.(=) p.(=) likely benign - g.41277430_41277431delinsAG - BRCA2:NM_000059.3:c.-163_-162delinsCT (?) - BRCA1_004862 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 1 c.-121G>C r.(=), r.(?) p.(=) likely benign, VUS - g.41277389C>G - BRCA1:NM_007294.3(BRCA1):c.-121G>C (?) - BRCA1_004861 VKGL data sharing initiative Nederland; correct HGVS to be checked, not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - CLASSIFICATION record, Germline - 2/6475 cases - - - VKGL-NL_Nijmegen, Lez J Burke
-?/. 1 1 c.-114C>T r.(=) p.(=) likely benign - g.41277382G>A - BRCA1:NM_007294.3:c.-114C>T (?) - BRCA1_004860 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - 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 1 c.-93G>A r.(=) p.(=) likely benign - g.41277361C>T - BRCA1:NM_007294.3:c.-93G>A (?) - BRCA1_004859 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/., ?/?, -?/., -/. 13 1 c.-86C>T r.(?), r.(=) p.?, p.(=) VUS, likely benign, benign - g.41277354G>A g.43125337G>A BRCA1:NM_007294.2:c.-86C>T (?) - BRCA1_001403 VKGL data sharing initiative Nederland; correct HGVS to be checked 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
?/. 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
?/?, ?/. 2 1 c.-61C>T r.(?) p.(=) VUS - g.41277329G>A g.43125312G>A - - BRCA1_001401 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - rs549332987 Unknown, Germline ? 1/6475 cases - - - Marjolijn JL Ligtenberg, Lez J Burke
?/?, ?/., -?/. 9 1 c.-54G>A r.(?), r.(=) p.(=), p.? VUS, likely benign - g.41277322C>T g.43125305C>T BRCA1:NM_007294.3:c.-54G>A (?) - BRCA1_000600 VKGL data sharing initiative Nederland; correct HGVS to be checked, 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
+/. 1 _1_17i c.-51-?_5024+?del r.0? p.0? pathogenic - g.41197694_41277500del - - - BRCA1_001090 - - - - Unknown ? - - - - Rob B. van der Luijt
+/. 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 - - - BRCA1_005297 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 2/6475 cases - - - Lez J Burke
-/. 1 1 c.-40A>G - - benign - g.41277308T>C - BRCA1:c.-40A>G - BRCA1_004827 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 1 c.-40C>T r.(=) p.(=) likely benign - g.41277308G>A - BRCA1:NM_007294.3:c.-40C>T (?) - BRCA1_004858 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 1 c.-39_-38del r.(=) p.(=) benign - g.41277306_41277307del - BRCA1:c.-39_-38delAT - BRCA1_004826 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 1 1 c.-29T>C r.(?) p.(=) VUS - g.41277297A>G g.43125280A>G - - BRCA1_001400 - - - - Unknown ? - - - - Juul Wijnen
?/. 1 1 c.-24T>C r.(?) p.(=) VUS - g.41277292A>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
+/. 1 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
+/. 2 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
+/. 1 1i_3i c.(-20+1_-19-1)_(134+1_135-1)del r.spl p.Met1_Cys47del NA - g.(41258551_41267742)_(41276133_41277287)del - Inframe deletion exon 2/3 - BRCA1_000017 mRNA analysis (RT-PCR); predicted deleterious PubMed: Marino 2009 - - In vitro (cloned) - - - - - Peter Devilee
+/., +/+ 4 1i_24, 1i_24_ c.(-20+1_-19-1)_(*1_?)del r.?, r.spl? p.0, p.0?, p.? pathogenic, kConFab: P - g.(?_41197694)_(41276133_41277287)del - c.-19-?_5592+?del, del exons 2_24 - BRCA1_002985 - Journal: Rebbeck 2018, kConFab variant classification: P - - Germline - 1/1658 - - - Johan den Dunnen, Arjen Mensenkamp, kConFab - Heather Thorne
?/., -?/. 4 1i c.-20+11C>T r.(?), r.(=) p.?, p.(=) VUS, likely benign - g.41277277G>A g.43125260G>A BRCA1:NM_007294.3:c.-20+11C>T (?) - BRCA1_002591 VKGL data sharing initiative Nederland; correct HGVS to be checked, not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - rs273898672 Unknown, CLASSIFICATION record, Germline - 1/6475 cases - - - Juul Wijnen, VKGL-NL_Nijmegen, Lez J Burke, Rien Blok
?/. 1 1i c.-20+28G>A r.(?) p.(=) VUS - g.41277260C>T - - - BRCA1_005295 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - rs904265019 Germline - 1/6475 cases - - - Lez J Burke
?/. 1 1i c.-20+48G>A r.(?) p.(=) VUS - g.41277240C>T - - - BRCA1_005294 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6475 cases - - - Lez J Burke
?/. 2 1i c.-20+73C>T r.(?) p.(=) VUS - g.41277215G>A - - - BRCA1_004729 - - - - Germline - - - - - Katrien Storm
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