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.

4208 entries on 43 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

ClassClinical     

FunctionalAnalysis/Technique     

FunctionalAnalysis/Result     

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     
+/. 2 1i_24 c.(-20+1_-19-1)_(*1_?)del r.? p.0 - pathogenic - - g.(?_41197694)_(41276133_41277287)del - c.-19-?_5592+?del - BRCA1_002985 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 4i_24_ c.(134+1_135-1)_(*1_?)del r.? p.? - pathogenic - - g.(?_41197694)_(41258551_41267742)del - c.135-?_5592+?del - BRCA1_001698 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 7i_24_ c.(441+1_442-1)_(*1_?)del r.? p.? - pathogenic - - g.(?_41197694)_(41251898_41256138)del - c.442-?_5592+?del - BRCA1_004872 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 16i_24_ c.(4986+1_4987-1)_(*1_?)del r.? p.? - pathogenic - - g.(?_41197694)_(41219713_41222944)del - c.4987-?_5592+?del - BRCA1_004871 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 17i_24_ c.(5074+1_5075-1)_(*1_?)del r.? p.? - pathogenic - - g.(?_41197694)_(41215969_41219624)del - c.5075-?_(*1_?)del - BRCA1_004870 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/. 1 19i_24_ c.(5193+1_5194-1)_(*1_?)del r.? p.? - pathogenic - - g.(?_41197694)_(41209153_41215349)del - c.5194-?_5592+?del - BRCA1_001683 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/. 4 20i_24_ c.(5277+1_5278-1)_(*1_?)del r.? p.? - pathogenic - - g.(?_41197694)_(41203135_41209068)del - c.5278-?_5592+?del - BRCA1_001691 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/. 5 22i_24_ c.(5406+1_5407-1)_(*1_?)del r.? p.? - pathogenic - - g.(?_41197694)_(41199721_41201137)del - c.5407-?_5592+?del - BRCA1_001693 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/. 9 23i_24_ c.(5467+1_5468-1)_(*1_?)del r.? p.? - pathogenic - - g.(?_41197694)_(41197820_41199659)del - c.5468-?_5592+?del - BRCA1_001694 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
-?/. 1 _1_12i c.(?_-232)_ (4185+1_4186-1)dup r.0? p.0? - Plon: 2 - - g.(41234593_41242960)_(41277500_?)dup - - - BRCA1_004700 - - - - Germline - - - - - Hans Gille
+/. 8 _1_24_ c.(?_-232)_(*1_?)del r.0 p.0 - pathogenic - - g.(?_41197694)_(41277500_?)del - c.-232-?_5592+?del - BRCA1_001598 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+?/. 1 _1_1i c.-283_-20+188|gom r.0? p.0? - - - - g.41277100_41277551|gom - - - BRCA1_005079 - Journal: Evans 2018 - - Somatic - - - - allele methylated Johan den Dunnen
+/. 2 12i_13i, (17_18) c.? r.?, r.(?) p.?, p.(fs*) - IARC-5 - - g.41230298_41236379dup, g.? g.43078281_43084362dup 5154delTTTTC - BRCA1_001349, BRCA1_000000 - PubMed: Briceno-Balcazar 2017 - - Germline - - - - - Marco Koudijs, Johan den Dunnen
+/. 2 _1_2i c.-33026_80+3829del r.? p.? - IARC:5 - - 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? - IARC:5 - - 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.(=) - - - - 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.(=) - - - - 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.(=) - - - - 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.(=) - - - - 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.(=) - - - - 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.(=) - - - - 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.(=) - - - - 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.(=) - - - - 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.(=) - - - - 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.(=) - - - - 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.(=) - - - - 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.(=) - - - - 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.(=) - - - - 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? - - - - 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? - - - - 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.(=) - - - - 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.(=) - - - - 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.(=) - not pathogenic - - 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.(=) - - - - 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.(=) - not pathogenic - - 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.(=) - not pathogenic - - 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.(=) - not pathogenic - - 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.(=) - not pathogenic - - 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.(=) - 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.(=) - 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.(=) - 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 not pathogenic - - 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.(=) - 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.(=) - 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.(=) - not pathogenic - - 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.(=) - 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? - IARC:5, 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
+/., +/+ 6 _1_2i c.(?_-232)_(80+1_81-1)del r.0? p.0? - pathogenic, Plon: 5 - - g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del, -?_80+?del, deletion exons 1-2 - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline, Unknown - - - - - Johan den Dunnen, Kathleen Claes, Juul Wijnen
+/+, +/. 10 _1_2i c.(?_-232)_(80+1_81-1)del r.0?, r.spl? p.0?, p.? - pathogenic, kConFab: P - - g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del, del exons 1_2, del exons 1 & 2 - BRCA1_001184, BRCA1_003033 - Journal: Rebbeck 2018, kConFab variant classification: P - - Unknown, Germline - 2/1658 - - - Rien Blok, Johan den Dunnen, kConFab - Heather Thorne, Florentina Fostira
+/+ 1 _1_2i c.(?_-232)_(80+1_81-1)dup r.0? p.0? - Plon: 5 - - 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, Plon: 5 - - 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
+/+, +/. 21 _1_24_ c.(?_-232)_(*1_?)del r.0?, r.0, r.?, r.spl? p.0?, p.0, p.? - IARC:5, Plon: 5, class 5, kConFab: LGR - - g.(?_41197694)_(41277500_?)del - deletion whole BRCA1 gene, (?_-48)_(*1_?)del, del exons 1_23 - BRCA1_001598, BRCA1_002986 - kConFab variant classification: LGR - - Unknown, Germline ? 1/1900 cases, 4/1658 - - - Ans M.W. van den Ouweland, Genevieve Michils, Juul Wijnen, Marjolijn JL Ligtenberg, Marco Koudijs, Frans BL Hogervorst, Arjen Mensenkamp, Karin Segers, Pascale Hilbert, Angela Solano & F Cardoso, kConFab - Heather Thorne
?/. 2 1 c.-220C>A r.=, r.(?) p.=, p.(=) - 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.(=) - likely benign, not pathogenic - - 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.? - CATII ook c.5585A>T BRCA1 - - 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? B1 disease associated - - 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 not pathogenic - - 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.(=) - Plon: 2, likely benign, not pathogenic, cat. II - - 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.? - cat. II, VUS, Bell: II - - 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.(=) - cat. II, 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.? - cat. II, Plon: 3, likely benign, Plon: 3 / Plon: 2, VUS - - 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? - - - - g.41197694_41277500del - - - BRCA1_001090 - - - - Unknown ? - - - - Marco Koudijs
+/. 2 1i_2i c.(?_-48-1)_(80+1_81-1)del r.0? p.0? - Plon: 5 - - 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.(=) - cat II - - 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, class 5 - - 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
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »