ClinVar Miner

Variants studied for Hereditary breast ovarian cancer syndrome

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
4969 789 9838 5512 883 1 25 21451

Gene and significance breakdown #

Total genes and gene combinations: 159
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
BRCA2 2770 367 6146 3184 340 0 7 12464
BRCA1 1735 269 2660 1745 227 1 15 6471
BRCA1, LOC126862571 287 12 484 225 35 0 3 1021
ATM 5 8 34 51 49 0 0 146
PALB2 47 27 16 22 14 0 0 126
BRIP1 12 20 23 15 20 0 0 89
CHEK2 21 26 19 7 10 0 0 81
BARD1 8 5 24 17 24 0 0 77
ATM, C11orf65 2 5 20 27 17 0 0 71
BRCA2, LOC106721785 0 0 36 25 6 0 0 66
FANCD2, LOC107303338 0 0 1 19 36 0 0 56
RAD51C 19 12 17 6 3 0 0 56
RAD51D, RAD51L3-RFFL 13 8 28 6 1 0 0 54
TP53 5 3 16 12 17 0 0 52
MRE11 1 3 14 21 11 0 0 50
NBN 0 3 8 17 21 0 0 49
RAD51B 0 1 8 16 13 0 0 38
RAD54L 0 0 6 22 4 0 0 32
BRCA1, LOC111589215 1 0 11 15 4 0 0 31
CDK12 0 0 1 19 5 0 0 25
FANCM 0 2 21 1 0 0 0 24
BLM 0 3 15 0 0 0 0 18
MLH1 0 0 17 1 0 0 0 18
RAD50 2 5 11 0 0 0 0 18
MSH6 0 0 16 1 0 0 0 17
MSH2 0 0 14 1 1 0 0 16
PPP2R2A 0 0 1 9 6 0 0 16
FANCD2, FANCD2OS 0 0 2 8 5 0 0 15
NF1 0 1 13 0 0 0 0 14
BRCA1, LOC110485084, LOC111589216, LOC126862571 8 0 3 0 0 0 0 11
CDH1 0 0 10 1 0 0 0 11
BRCA1, LOC110485084, LOC111589215, LOC111589216, LOC126862571 7 0 3 0 0 0 0 10
PMS2 1 0 8 1 0 0 0 10
RECQL 0 1 5 2 0 0 0 8
BRCA1, LOC110485084, LOC111589215, LOC111589216 2 0 5 0 0 0 0 7
ABRAXAS1 0 0 6 0 0 0 0 6
BRCA1, LOC110485084, LOC111589216 4 0 2 0 0 0 0 6
CDK12, LOC126862553 0 0 0 5 1 0 0 6
RINT1 0 1 5 0 0 0 0 6
LOC129390903, RAD51C 1 0 4 0 0 0 0 5
LRRC41, RAD54L 0 0 1 3 1 0 0 5
PTEN 0 0 5 0 0 0 0 5
AOPEP, FANCC 0 0 2 2 0 0 0 4
BARD1, LOC129935544 0 0 0 0 4 0 0 4
BRCA2, LOC112163653, LOC130009524 3 0 1 0 0 0 0 4
BRCA2, LOC106721785, LOC130009523 3 0 0 0 0 0 0 3
BRCA2, LOC106721785, ZAR1L 0 0 1 0 2 0 0 3
EPCAM 0 0 3 0 0 0 0 3
FANCD2 0 0 0 0 3 0 0 3
LOC126860438, NBN 0 0 0 2 1 0 0 3
PMS1 0 0 1 2 0 0 0 3
STK11 0 0 2 1 0 0 0 3
BRCA1, LOC111589215, NBR2 0 0 0 0 2 0 0 2
BRCA1, NBR2 2 0 0 0 0 0 0 2
FLCN 0 0 2 0 0 0 0 2
RAD50, TH2LCRR 0 0 2 0 0 0 0 2
XRCC2 1 0 1 0 0 0 0 2
A1CF 0 0 1 0 0 0 0 1
ABCB1 0 0 1 0 0 0 0 1
ABCG2 0 0 1 0 0 0 0 1
ABRAXAS1, LOC129992784 0 1 0 0 0 0 0 1
ACACA 0 0 1 0 0 0 0 1
AIM2 0 0 1 0 0 0 0 1
ARL4D, BRCA1, DHX8, ETV4, NBR1, NBR2, TMEM106A 0 0 1 0 0 0 0 1
BCAR1 0 1 0 0 0 0 0 1
BCL2L1 0 0 1 0 0 0 0 1
BIRC6 0 0 1 0 0 0 0 1
BRCA2, LOC106721785, LOC112163653, LOC130009523, LOC130009524 1 0 0 0 0 0 0 1
BRIP1, LOC130061360 0 0 0 1 0 0 0 1
CCNG1 0 0 1 0 0 0 0 1
CDK20 0 0 1 0 0 0 0 1
CHD1L 0 0 1 0 0 0 0 1
COL2A1 0 0 1 0 0 0 0 1
CSMD3 0 0 1 0 0 0 0 1
CTNNA1 1 0 0 0 0 0 0 1
CTNNA2 1 0 0 0 0 0 0 1
DMBT1 0 0 1 0 0 0 0 1
DROSHA 1 0 0 0 0 0 0 1
EED 0 0 1 0 0 0 0 1
EFCAB10, RINT1 0 0 1 0 0 0 0 1
EGFR 0 0 1 0 0 0 0 1
ENO2, LOC130007287 0 0 1 0 0 0 0 1
EP300 0 0 1 0 0 0 0 1
ERCC6 0 0 1 0 0 0 0 1
ERCC8 0 0 1 0 0 0 0 1
ESCO2 0 0 1 0 0 0 0 1
EXO1 0 0 1 0 0 0 0 1
EYA2 0 0 1 0 0 0 0 1
FAN1 0 0 1 0 0 0 0 1
FAN1, MTMR10 0 0 1 0 0 0 0 1
FANCC 0 0 1 0 0 0 0 1
FANCE 0 0 1 0 0 0 0 1
FEN1 0 0 1 0 0 0 0 1
FLNA 0 0 1 0 0 0 0 1
FOXD1 0 0 1 0 0 0 0 1
GPHN 0 0 1 0 0 0 0 1
HERPUD1 1 0 0 0 0 0 0 1
ID3 0 0 1 0 0 0 0 1
INSL6, JAK2 0 0 1 0 0 0 0 1
KIT 0 0 1 0 0 0 0 1
KRAS 0 1 0 0 0 0 0 1
KRT19 0 0 1 0 0 0 0 1
LASP1 0 0 1 0 0 0 0 1
LCP1 1 0 0 0 0 0 0 1
LEPROTL1 0 0 1 0 0 0 0 1
LIFR 0 0 1 0 0 0 0 1
LOC101928847, NCAM1 0 0 1 0 0 0 0 1
LOC107988030, MITF 0 1 0 0 0 0 0 1
LOC126806995, MED28 0 0 1 0 0 0 0 1
LOC126807401, PLK2 1 0 0 0 0 0 0 1
LOC126862741, SMAD7 0 0 1 0 0 0 0 1
LRP12 0 0 1 0 0 0 0 1
MAFG 0 0 1 0 0 0 0 1
MELK 0 0 1 0 0 0 0 1
MME 0 0 1 0 0 0 0 1
MUTYH 0 1 0 0 0 0 0 1
MYO5A 0 0 1 0 0 0 0 1
NBPF3 0 0 1 0 0 0 0 1
NEK3 0 0 1 0 0 0 0 1
NEMF 0 0 1 0 0 0 0 1
NFKB2 0 0 1 0 0 0 0 1
NOTCH2 0 0 1 0 0 0 0 1
PAK4 0 0 1 0 0 0 0 1
PAX7 0 0 1 0 0 0 0 1
PCSK7 0 0 1 0 0 0 0 1
PDGFB 0 0 1 0 0 0 0 1
PLCG1 0 0 1 0 0 0 0 1
POLQ 0 0 1 0 0 0 0 1
PTCH1 1 0 0 0 0 0 0 1
PTPRK 0 0 1 0 0 0 0 1
PUM1 0 0 1 0 0 0 0 1
PYROXD1, RECQL 0 0 1 0 0 0 0 1
RAD50, TH2-LCR, TH2LCRR 0 0 1 0 0 0 0 1
RAD51D 1 0 0 0 0 0 0 1
RALGDS 0 0 1 0 0 0 0 1
RFC1 0 0 1 0 0 0 0 1
RIPK1 1 0 0 0 0 0 0 1
RPN1 0 0 1 0 0 0 0 1
SAV1 0 0 1 0 0 0 0 1
SLC34A2 0 1 0 0 0 0 0 1
SP100 0 0 1 0 0 0 0 1
TACC3 0 0 1 0 0 0 0 1
TDG 0 0 1 0 0 0 0 1
TERT 0 0 1 0 0 0 0 1
TES 0 0 1 0 0 0 0 1
TFRC 0 0 1 0 0 0 0 1
TG 0 0 1 0 0 0 0 1
TLX3 0 0 1 0 0 0 0 1
TNC 0 0 1 0 0 0 0 1
TPM4 0 0 1 0 0 0 0 1
TSHR 0 0 1 0 0 0 0 1
TYRO3 0 0 1 0 0 0 0 1
UFL1 0 0 1 0 0 0 0 1
UNG 0 0 1 0 0 0 0 1
VRK1 0 1 0 0 0 0 0 1
VTI1A 0 0 1 0 0 0 0 1
WDR11 0 0 1 0 0 0 0 1
WIF1 0 0 1 0 0 0 0 1
WWOX 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
Invitae 4386 256 9176 5003 557 1 0 19378
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1048 340 3 2 93 0 0 1486
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 79 7 111 393 408 0 0 998
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 913 9 0 0 0 0 0 922
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 279 79 0 0 0 0 0 358
Cancer Genomics Group, Japanese Foundation For Cancer Research 5 27 251 14 1 0 0 298
Genetics Program, Instituto Nacional de Cancer 31 3 23 53 56 0 0 166
Mendelics 78 3 60 1 16 0 0 158
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 13 4 46 61 31 0 0 155
Molecular Oncology Research Center, Barretos Cancer Hospital 10 7 91 1 0 0 0 109
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 3 22 34 29 4 0 0 92
Department of Pathology and Molecular Medicine, Queen's University 59 2 0 0 0 0 0 61
Department of Pathology and Laboratory Medicine, Sinai Health System 41 13 0 0 0 0 0 54
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 14 33 5 1 0 0 0 53
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 24 0 28 0 0 0 0 52
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 5 1 28 8 1 0 0 43
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 16 13 10 0 0 39
Hereditary Cancer Genetics group, Vall d'Hebron Institute of Oncology 9 6 5 0 14 0 0 34
Illumina Laboratory Services, Illumina 2 0 19 12 1 0 0 33
Breast Center, Key Laboratory of Carcinogenesis and Translational Research 5 7 20 0 1 0 0 33
GeneKor MSA 22 2 0 0 0 0 0 24
BRCAlab, Lund University 20 3 0 0 0 0 0 23
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 3 2 14 0 0 0 0 19
CSER _CC_NCGL, University of Washington 1 3 8 3 2 0 0 17
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 13 13
Research Institute, Aichi Cancer Center 11 1 0 0 0 0 0 12
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital 2 2 7 0 0 0 0 11
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 8 0 2 0 0 0 0 10
Dr. Peter K. Rogan Lab, Western University 0 8 1 0 0 0 0 9
GeneReviews 0 0 0 0 0 0 8 8
University of Washington Department of Laboratory Medicine, University of Washington 1 1 0 4 2 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 2 2 0 0 0 7
Curoverse 6 0 0 0 0 0 0 6
Lab of Molecular Oncology, Sapienza University of Rome 6 0 0 0 0 0 0 6
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 6 0 0 0 0 0 0 6
Cancer Genomics Lab, PINUM Cancer Hospital 6 0 0 0 0 0 0 6
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 5 0 0 0 0 0 0 5
Center of Medical Genetics and Primary Health Care 4 1 0 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 0 0 0 0 0 0 5
Oncological Genetic Counseling Clinic, "Carlo Poma" Hospital 0 0 5 0 0 0 0 5
Veritas Genetics, Veritas Genetics 3 1 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 1 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 0 0 0 0 0 0 3
Breast Care Center, Daerim St. Mary`s Hospital 0 1 2 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 0 0 0 0 0 2
Service de Génétique Médicale, Institut Central des Hôpitaux 0 0 2 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 1
Center for Breast Cancer, National Cancer Center 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 0 1 0 0 1
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 0 1
Clinical Cancer Genetics and Family Consultants, Athens Medical Center 0 1 0 0 0 0 0 1
International Hereditary Cancer Center PUM, Pomeranian Medical University 0 0 1 0 0 0 0 1
Centro de Estudios en Salud, Universidad de Narino 0 1 0 0 0 0 0 1
Laboratorios - Biologia Molecular Oncohematologica, Hospital Privado Universitario de Cordoba 1 0 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 1 0 0 0 0 0 0 1
Dept of Medical Genetics, NHO Tokyo Medical Center 0 1 0 0 0 0 0 1

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