Full data view for gene STK11

Information The variants shown are described using the NM_000455.4 transcript reference sequence.

663 entries on 7 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. _1_1i c.(?_-1115)_(290+1_291-1)del r.0? p.0? Unknown - VUS g.(?_1205798)_(1207203_1218415)del - -1115-?_290+?del - STK11_000693 - - - - Germline - - - - - DNA SEQ - - - - - - - - Australia - - - - - 1 InSiGHT - John-Paul Plazzer
+/? _1_1i c.(?_-1115)_(290+1_291-1)del r.0? p.0? Unknown - pathogenic g.(?_1205798)_(1207203_1218415)del - 1-?_290+?del - STK11_000693 - - - - Germline - - - - - DNA SEQ - - - - - - - - Australia - - - - - 1 InSiGHT - John-Paul Plazzer
?/. _1_9i_ c.(?_-1115)_(*16_?)del r.0? p.0? Unknown - VUS g.(?_1205798)_(1226663_?)del - -1115-?_1302+?del - STK11_000694 - - - - Germline - - - - - DNA SEQ - - - - - - - - Australia - - - - - 1 InSiGHT - John-Paul Plazzer
?/. _1_10_ c.(?_-1105)_(*859_?)dup r.? p.? Unknown - VUS g.(?_1205808)_(1228434_?)dup - STK11 gene duplication - STK11_000712 - PubMed: Slavin 2017 - - Germline - 1/2134 cases BRCA - - - DNA SEQ, SEQ-NG - 26 gene panel BRCA BROVCA 28649662-PatCGRSX1109 PubMed: Slavin 2017 - F - - European, white - - - - 1 Johan den Dunnen
-/. - c.-311C>T r.(?) p.(=) Unknown - benign g.1206602C>T - - - STK11_000920 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4i_8i c.? r.? p.? Unknown - pathogenic g.? - del ex5-8 - NPHS1_000138 - PubMed: Moreno-Cabrera 2021 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - cancer S14 PubMed: Moreno-Cabrera 2021 - - - Spain - - - - - 1 Johan den Dunnen
?/. - c.1A>T r.? p.? Parent #1 - NA g.1206913A>T - chr19_1206913_A_T - STK11_000750 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.3G>A r.? p.? Parent #1 - NA g.1206915G>A - chr19_1206915_G_A - STK11_000751 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.4G>A r.(?) p.(Glu2Lys) Parent #1 - NA g.1206916G>A - chr19_1206916_G_A - STK11_000752 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.5A>C r.(?) p.(Glu2Ala) Parent #1 - NA g.1206917A>C - chr19_1206917_A_C - STK11_000753 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.7G>A r.(?) p.(Val3Met) Parent #1 - NA g.1206919G>A - chr19_1206919_G_A - STK11_000754 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.7G>A r.(?) p.(Val3Met) Parent #1 - NA g.1206919G>A - chr19_1206919_G_A - STK11_000754 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.22C>G r.(?) p.(Gln8Glu) Parent #1 - NA g.1206934C>G - chr19_1206934_C_G - STK11_000755 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.24G>T r.(?) p.(Gln8His) Parent #1 - NA g.1206936G>T - chr19_1206936_G_T - STK11_000756 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.26T>C r.(?) p.(Leu9Pro) Parent #1 - NA g.1206938T>C - chr19_1206938_T_C - STK11_000757 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.29G>A r.(?) p.(Gly10Asp) Parent #1 - NA g.1206941G>A - chr19_1206941_G_A - STK11_000758 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
./. - c.31A>G r.(?) p.(Met11Val) Parent #1 - VUS g.1206943A>G g.1206944A>G - - STK11_000536 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
?/. - c.31A>T r.(?) p.(Met11Leu) Parent #1 - NA g.1206943A>T - chr19_1206943_A_T - STK11_000759 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 3 BRIDGES consortium
?/. - c.31A>T r.(?) p.(Met11Leu) Parent #1 - NA g.1206943A>T - chr19_1206943_A_T - STK11_000759 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 3 BRIDGES consortium
-?/. - c.31A>T r.(?) p.(Met11Leu) Unknown - likely benign g.1206943A>T - - - STK11_000759 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.32T>C r.(?) p.(Met11Thr) Parent #1 - NA g.1206944T>C - chr19_1206944_T_C - STK11_000760 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.33G>A r.(?) p.(Met11Ile) Parent #1 - NA g.1206945G>A - chr19_1206945_G_A - STK11_000761 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.34T>C r.(?) p.(Phe12Leu) Parent #1 - NA g.1206946T>C - chr19_1206946_T_C - STK11_000762 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.36C>A r.(?) p.(Phe12Leu) Parent #1 - NA g.1206948C>A - chr19_1206948_C_A - STK11_000763 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.38C>T r.(?) p.(Thr13Met) Parent #1 - VUS g.1206950C>T g.1206951C>T - - STK11_000599 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12439 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 1 Yukihide Momozawa
?/. - c.38C>T r.(?) p.(Thr13Met) Parent #1 - NA g.1206950C>T - chr19_1206950_C_T - STK11_000599 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. 1 c.39G>C r.(?) p.(=) Parent #1 - VUS g.1206951G>C g.1206952G>C - - STK11_000600 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 1 Yukihide Momozawa
?/. - c.39G>C r.(?) p.(=) Parent #1 - VUS g.1206951G>C g.1206952G>C - - STK11_000600 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12488 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 1 Yukihide Momozawa
?/. - c.40G>A r.(?) p.(Glu14Lys) Parent #1 - NA g.1206952G>A - chr19_1206952_G_A - STK11_000764 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
-?/. - c.42G>A r.(?) p.(Glu14=) Unknown - likely benign g.1206954G>A - STK11(NM_000455.4):c.42G>A (p.(Glu14=)), STK11(NM_000455.5):c.42G>A (p.E14=) - STK11_000747 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.42G>A r.(?) p.(Glu14=) Unknown - VUS g.1206954G>A - STK11(NM_000455.4):c.42G>A (p.(Glu14=)), STK11(NM_000455.5):c.42G>A (p.E14=) - STK11_000747 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.43G>A r.(?) p.(Gly15Ser) Unknown ACMG VUS g.1206955G>A g.1206956G>A - - STK11_000713 ACMG grading: BP4; suspicion of a hereditary cancer predisposition in family - - - Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
?/. - c.43G>A r.(?) p.(Gly15Ser) Unknown ACMG VUS g.1206955G>A g.1206956G>A - - STK11_000713 ACMG grading: BP4 - - - Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
?/. - c.45C>T r.(?) p.(Gly15Gly) Unknown ACMG VUS g.1206957C>T g.1206958C>T - - STK11_000732 not affected but family history of BC, 2 sisters with BC at age 70y - - rs786201234 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
?/. - c.46G>A r.(?) p.(Glu16Lys) Parent #1 - NA g.1206958G>A - chr19_1206958_G_A - STK11_000765 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.47A>G r.(?) p.(Glu16Gly) Parent #1 - NA g.1206959A>G - chr19_1206959_A_G - STK11_000766 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.47A>G r.(?) p.(Glu16Gly) Parent #1 - NA g.1206959A>G - chr19_1206959_A_G - STK11_000766 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.50T>C r.(?) p.(Leu17Pro) Parent #1 - NA g.1206962T>C - chr19_1206962_T_C - STK11_000767 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.52A>G r.(?) p.(Met18Val) Parent #1 - NA g.1206964A>G - chr19_1206964_A_G - STK11_000768 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.56C>T r.(?) p.(Ser19Leu) Unknown ACMG VUS g.1206968C>T g.1206969C>T - - STK11_000733 Adeno-CRC at age 55y, sister CRC at age 59y, father CRC at age 64y and prostate-ca, other prostate cancer in paternal line, cousin maternal side BC at age 43y - - - Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
?/. - c.58G>A r.(?) p.(Val20Met) Parent #1 - NA g.1206970G>A - chr19_1206970_G_A - STK11_000769 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.59T>G r.(?) p.(Val20Gly) Parent #1 - NA g.1206971T>G - chr19_1206971_T_G - STK11_000770 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.61G>A r.(?) p.(Gly21Ser) Parent #1 - NA g.1206973G>A - chr19_1206973_G_A - STK11_000771 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+/. - c.64_73del r.(?) p.(Met22SerfsTer26) Unknown - pathogenic g.1206976_1206985del g.1206977_1206986del STK11(NM_000455.4):c.64_73delATGGACACGT (p.M22Sfs*26) - STK11_000591 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.65T>C r.(?) p.(Met22Thr) Parent #1 - VUS g.1206977T>C g.1206978T>C - - STK11_000601 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 1 Yukihide Momozawa
?/. - c.66G>C r.(?) p.(Met22Ile) Parent #1 - VUS g.1206978G>C g.1206979G>C - - STK11_000602 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12488 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 1 Yukihide Momozawa
?/. - c.70A>G r.(?) p.(Thr24Ala) Parent #1 - NA g.1206982A>G - chr19_1206982_A_G - STK11_000772 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.71C>A r.(?) p.(Thr24Lys) Parent #1 - NA g.1206983C>A - chr19_1206983_C_A - STK11_000773 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.71C>G r.(?) p.(Thr24Arg) Parent #1 - NA g.1206983C>G - chr19_1206983_C_G - STK11_000774 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.71C>T r.(?) p.(Thr24Met) Parent #1 - NA g.1206983C>T - chr19_1206983_C_T - STK11_000775 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.71C>T r.(?) p.(Thr24Met) Parent #1 - NA g.1206983C>T - chr19_1206983_C_T - STK11_000775 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.77T>C r.(?) p.(Ile26Thr) Parent #1 - NA g.1206989T>C - chr19_1206989_T_C - STK11_000776 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.82C>T r.(?) p.(Arg28Cys) Parent #1 - NA g.1206994C>T - chr19_1206994_C_T - STK11_000777 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.83G>C r.(?) p.(Arg28Pro) Parent #1 - NA g.1206995G>C - chr19_1206995_G_C - STK11_000778 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.86T>C r.(?) p.(Ile29Thr) Parent #1 - NA g.1206998T>C - chr19_1206998_T_C - STK11_000779 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.89A>G r.(?) p.(Asp30Gly) Parent #1 - NA g.1207001A>G - chr19_1207001_A_G - STK11_000780 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.90C>G r.(?) p.(Asp30Glu) Parent #1 - NA g.1207002C>G - chr19_1207002_C_G - STK11_000781 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.94A>G r.(?) p.(Thr32Ala) Unknown - VUS g.1207006A>G g.1207007A>G STK11(NM_000455.4):c.94A>G (p.T32A) - STK11_000537 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.94A>G r.(?) p.(Thr32Ala) Parent #1 - NA g.1207006A>G - chr19_1207006_A_G - STK11_000537 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
-/. 1 c.96C>G r.(?) p.(=) Parent #1 - benign g.1207008C>G g.1207009C>G - - STK11_000603 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs79175212 Germline - 172/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 172 Yukihide Momozawa
-/. 1 c.96C>G r.(?) p.(=) Parent #1 - benign g.1207008C>G g.1207009C>G - - STK11_000603 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs79175212 Germline - 261/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 261 Yukihide Momozawa
-/. - c.96C>G r.(?) p.(=) Both (homozygous) - benign g.1207008C>G g.1207009C>G - - STK11_000603 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs79175212 Germline - 3/11241 controls - - - DNA SEQ - - Healthy/Control -con-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 3 Yukihide Momozawa
-/. - c.96C>G r.(?) p.(=) Parent #1 - benign g.1207008C>G g.1207009C>G - - STK11_000603 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs79175212 Germline - 2/53 cases - - - DNA SEQ - - cancer, breast -cases-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 53 male breast cancer cases M - Japan - - - - - 2 Yukihide Momozawa
-/. - c.96C>G r.(?) p.(=) Both (homozygous) - benign g.1207008C>G g.1207009C>G - - STK11_000603 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs79175212 Germline - 1/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 1 Yukihide Momozawa
-/. - c.96C>G r.(?) p.(=) Parent #1 - benign g.1207008C>G g.1207009C>G - - STK11_000603 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs79175212 Germline - 265/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 265 Yukihide Momozawa
?/. - c.100G>A r.(?) p.(Val34Ile) Parent #1 - NA g.1207012G>A - chr19_1207012_G_A - STK11_000782 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.101T>C r.(?) p.(Val34Ala) Parent #1 - NA g.1207013T>C - chr19_1207013_T_C - STK11_000783 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.107A>G r.(?) p.(Tyr36Cys) Parent #1 - VUS g.1207019A>G g.1207020A>G - - STK11_000604 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 1 Yukihide Momozawa
?/. - c.109C>T r.(?) p.(Gln37*) Parent #1 - NA g.1207021C>T - chr19_1207021_C_T - STK11_000784 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.112C>G r.(?) p.(Pro38Ala) Parent #1 - NA g.1207024C>G - chr19_1207024_C_G - STK11_000785 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.116G>T r.(?) p.(Arg39Leu) Parent #1 - NA g.1207028G>T - chr19_1207028_G_T - STK11_000786 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 4/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 4 BRIDGES consortium
?/. 1 c.119G>A r.(?) p.(Arg40His) Parent #1 - VUS g.1207031G>A g.1207032G>A - - STK11_000605 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 1 Yukihide Momozawa
?/. - c.119G>A r.(?) p.(Arg40His) Parent #1 - NA g.1207031G>A - chr19_1207031_G_A - STK11_000605 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. 1 c.120C>A r.(?) p.(=) Parent #1 - VUS g.1207032C>A g.1207033C>A - - STK11_000606 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 1 Yukihide Momozawa
?/. - c.122A>G r.(?) p.(Lys41Arg) Parent #1 - NA g.1207034A>G - chr19_1207034_A_G - STK11_000787 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.123G>C r.(?) p.(Lys41Asn) Parent #1 - NA g.1207035G>C - chr19_1207035_G_C - STK11_000788 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.125G>A r.(?) p.(Arg42Gln) Parent #1 - NA g.1207037G>A - chr19_1207037_G_A - STK11_000789 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.125G>A r.(?) p.(Arg42Gln) Parent #1 - NA g.1207037G>A - chr19_1207037_G_A - STK11_000789 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. 1 c.125G>T r.(?) p.(Arg42Leu) Parent #1 - VUS g.1207037G>T g.1207038G>T - - STK11_000607 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs148830698 Germline - 6/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 6 Yukihide Momozawa
?/. 1 c.125G>T r.(?) p.(Arg42Leu) Parent #1 - VUS g.1207037G>T g.1207038G>T - - STK11_000607 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs148830698 Germline - 3/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 3 Yukihide Momozawa
?/. - c.125G>T r.(?) p.(Arg42Leu) Parent #1 - VUS g.1207037G>T g.1207038G>T - - STK11_000607 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs148830698 Germline - 5/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 5 Yukihide Momozawa
?/. - c.125G>T r.(?) p.(Arg42Leu) Parent #1 - NA g.1207037G>T - chr19_1207037_G_T - STK11_000607 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 6/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 6 BRIDGES consortium
?/. - c.125G>T r.(?) p.(Arg42Leu) Parent #1 - NA g.1207037G>T - chr19_1207037_G_T - STK11_000607 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 4/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 4 BRIDGES consortium
?/. - c.126G>C r.(?) p.(=) Parent #1 - VUS g.1207038G>C g.1207039G>C - - STK11_000608 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 1 Yukihide Momozawa
?/. - c.127G>A r.(?) p.(Ala43Thr) Parent #1 - NA g.1207039G>A - chr19_1207039_G_A - STK11_000790 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+/. - c.129dup r.(?) p.(Lys44Glnfs*119) Unknown - pathogenic g.1207041dup g.1207042dup - - STK11_000695 disruptive variant PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA SEQ-NG - CRC 10 gene panel PJS 29967336-Pat PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
?/. - c.138C>G r.(?) p.(Ile46Met) Parent #1 - VUS g.1207050C>G g.1207051C>G - - STK11_000609 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 2/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 2 Yukihide Momozawa
?/. - c.140G>A r.(?) p.(Gly47Asp) Parent #1 - NA g.1207052G>A - chr19_1207052_G_A - STK11_000791 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+?/. - c.141dup r.(?) p.(Lys48Glnfs*115) Unknown ACMG likely pathogenic (dominant) g.1207053dup g.1207054dup - - STK11_000886 ACMG: PVS1, PM2_SUP - - - Germline - - - - - DNA SEQ-NG-I Blood WES PJS 203676_182721_ISY - - F - Germany - - - - - 1 Andreas Laner
?/. 1 c.151A>C r.(?) p.(Met51Leu) Parent #1 - VUS g.1207063A>C g.1207064A>C - - STK11_000610 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs730881986 Germline - 1/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 1 Yukihide Momozawa
?/. - c.151A>C r.(?) p.(Met51Leu) Parent #1 - NA g.1207063A>C - chr19_1207063_A_C - STK11_000610 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.151A>G r.(?) p.(Met51Val) Parent #1 - NA g.1207063A>G - chr19_1207063_A_G - STK11_000792 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
+?/? 1 c.151_162del r.(?) p.(Met51_Leu54del) Unknown - likely pathogenic g.1207063_1207074del g.1207064_1207075del - - STK11_000502 - - - - Germline - - - - - DNA SEQ Blood - PJS - - - F - China Han >31y - - - 2 Zhiqing Wang
?/. - c.153G>A r.(?) p.(Met51Ile) Parent #1 - NA g.1207065G>A - chr19_1207065_G_A - STK11_000793 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.153G>A r.(?) p.(Met51Ile) Parent #1 - NA g.1207065G>A - chr19_1207065_G_A - STK11_000793 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.155G>A r.(?) p.(Gly52Glu) Parent #1 - NA g.1207067G>A - chr19_1207067_G_A - STK11_000794 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+/. - c.156_157dup r.(?) p.(Asp53GlyfsTer12) Unknown - pathogenic g.1207068_1207069dup g.1207069_1207070dup STK11(NM_000455.4):c.156_157dupGG (p.D53Gfs*12) - STK11_000538 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.157G>A r.(?) p.(Asp53Asn) Parent #1 - NA g.1207069G>A - chr19_1207069_G_A - STK11_000795 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+/. - c.157_158delinsT r.(?) p.(Asp53Serfs*11) Unknown - pathogenic g.1207069_1207070delinsT g.1207070_1207071delinsT - - STK11_000697 disruptive variant (mosaic) PubMed: Baert-Desurmont 2018 - - Somatic - - - - - DNA SEQ-NG - CRC 10 gene panel PJS 29967336-Pat PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/? 1 c.157_158insCC r.(?) p.(Asp53Alafs*12) Unknown - pathogenic g.1207069_1207070insCC g.1207070_1207071insCC 157_158insCC - STK11_000696 - - - - Germline - - - - - DNA SEQ - - - - - - - - Australia - - - - - 1 InSiGHT - John-Paul Plazzer
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