Variants studied for female reproductive organ cancer

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

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	association	established risk allele	not provided	total
555	1042	1255	124	418	2	1	22	3364

Gene and significance breakdown #

Total genes and gene combinations: 173

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	established risk allele	not provided	total
MSH6	140	128	620	14	16	0	0	0	908
MSH3	7	98	331	2	0	0	0	1	439
TP53	98	265	2	1	0	0	0	2	361
BRIP1	25	40	107	35	11	0	0	2	213
BRCA1	75	11	3	2	4	0	0	0	95
BRCA2	41	14	12	2	14	0	0	0	81
DHFR, MSH3	0	15	48	1	1	0	0	0	65
PMS2	14	6	9	9	23	0	0	0	61
PIK3CA	12	50	3	0	0	0	0	1	55
CDH1	9	5	18	10	4	0	0	1	45
MSH2	12	5	7	5	5	0	0	0	34
PTEN	17	14	3	0	1	1	0	0	33
CTNNB1, LOC126806658	2	28	0	1	0	0	0	0	30
FGFR3	10	0	11	5	1	0	0	1	28
PALB2	1	3	8	7	6	0	0	1	26
RECQL4	0	12	0	0	14	0	0	0	26
MLH3	1	5	9	3	6	0	0	0	24
PRKN	5	3	8	5	3	0	0	0	24
APC	0	7	2	0	14	0	0	0	23
ATM	6	0	6	1	8	0	0	0	21
RAD51C	11	7	3	0	1	0	0	0	21
MLH1	8	0	3	2	6	0	0	0	19
MT-CYB	0	19	0	3	1	0	0	0	19
ATM, C11orf65	2	3	6	1	6	0	0	0	18
TSC2	0	11	0	0	7	0	0	0	18
ALK	0	5	0	0	10	0	0	0	15
AR	0	8	0	0	7	0	0	0	15
BARD1	1	5	3	1	5	0	0	0	15
BRCA1, LOC126862571	13	2	0	0	0	0	0	0	15
FBXW7	0	15	0	0	0	0	0	0	15
MUC16	0	15	0	0	0	0	0	0	15
CHEK2	6	0	8	0	0	0	0	0	14
RET	0	4	0	0	10	0	0	0	14
EGFR	0	4	0	0	6	0	0	3	13
RAD51D, RAD51L3-RFFL	9	3	0	0	0	0	0	1	13
WRN	0	4	0	0	9	0	0	0	13
BLM	1	3	0	0	8	0	0	0	12
DICER1	0	4	0	0	8	0	0	0	12
FLCN	0	4	0	0	8	0	0	0	12
ERBB2	1	9	0	0	0	0	0	2	11
HRAS, LRRC56	0	10	0	0	1	0	0	0	11
NRAS	0	11	0	0	0	0	0	0	11
PDGFRA	0	5	0	0	6	0	0	0	11
PTCH1	0	4	0	0	7	0	0	0	11
BRAF	2	7	0	0	0	0	0	1	10
TSHR	0	6	0	0	4	0	0	0	10
AXIN2	0	3	0	0	6	0	0	0	9
BIVM-ERCC5, ERCC5	0	5	0	0	4	0	0	0	9
FGFR2	2	8	0	0	0	0	0	0	9
KRAS	6	1	0	0	0	0	0	3	9
LOC126807437, MSH3	0	2	7	0	0	0	0	0	9
EXT1	0	2	0	0	6	0	0	0	8
FANCA	0	2	0	0	6	0	0	0	8
FANCG	0	2	0	0	6	0	0	0	8
KIT	0	2	0	0	6	0	0	0	8
MSR1	0	5	0	0	3	0	0	0	8
PMS1	0	2	0	0	6	0	0	0	8
STK11	0	0	1	3	4	0	0	0	8
TSC1	0	1	0	0	7	0	0	0	8
ERCC3	0	1	0	0	6	0	0	0	7
EXT2	0	4	0	0	3	0	0	0	7
MET	0	2	0	0	5	0	0	0	7
POLE	1	4	0	1	1	0	1	0	7
RB1	0	3	1	0	3	0	0	0	7
AOPEP, FANCC	0	4	1	0	1	0	0	0	6
ELAC2	0	2	0	0	4	0	0	0	6
ERCC4	0	2	0	0	4	0	0	0	6
FANCD2, LOC107303338	0	4	0	0	2	0	0	0	6
MRE11	0	1	1	0	4	0	0	0	6
NBN	2	2	0	0	2	0	0	0	6
B2M	0	5	0	0	0	0	0	0	5
ERBB3	0	5	0	0	0	0	0	0	5
FANCE	0	2	0	0	3	0	0	0	5
FH	0	5	0	0	0	0	0	0	5
MAP3K1	4	1	0	0	0	0	0	0	5
MTOR	0	5	0	0	0	0	0	0	5
NF1	0	0	0	0	5	0	0	0	5
PPP2R1A	0	5	0	0	0	0	0	0	5
RAD50	0	1	0	0	4	0	0	0	5
RNASEL	0	2	0	0	3	0	0	0	5
XPC	0	3	0	0	2	0	0	0	5
BUB1B	0	1	0	0	3	0	0	0	4
CDKN1B	0	2	0	0	2	0	0	0	4
CTNNB1, LOC126806659	2	0	1	1	0	0	0	0	4
ERCC2	0	3	0	0	1	0	0	0	4
HMMR	0	2	0	0	2	0	0	0	4
LOC129933707, MSH6	0	0	4	0	0	0	0	0	4
MT-TT	0	4	2	0	0	0	0	0	4
NFE2L2	0	4	0	0	0	0	0	0	4
POLD1	0	0	1	3	0	0	0	0	4
SPOP	0	4	0	0	0	0	0	0	4
TRIM24	0	1	0	0	3	0	0	0	4
FANCD2, FANCD2OS	0	1	0	0	2	0	0	0	3
FANCF	0	1	0	0	2	0	0	0	3
LOC107982234, WT1	0	1	0	0	2	0	0	0	3
LOC129390903, RAD51C	0	1	1	0	1	0	0	0	3
MAP2K1	0	3	0	0	0	0	0	0	3
MUTYH	2	0	0	0	1	0	0	0	3
MXI1	0	2	0	0	1	0	0	0	3
NTRK1	0	3	0	0	0	0	0	0	3
RAC1	0	3	0	0	0	0	0	0	3
RAD50, TH2LCRR	0	1	0	0	2	0	0	0	3
SDHAF2	0	1	0	0	2	0	0	0	3
SDHB	0	0	0	0	3	0	0	0	3
TRIM33	0	0	0	0	3	0	0	0	3
XPO1	0	3	0	0	0	0	0	0	3
AKT1	1	0	0	1	0	0	0	0	2
CDKN2A	0	1	0	0	1	0	0	0	2
CTNNB1	0	0	0	2	0	0	0	0	2
CYLD	0	0	0	0	2	0	0	0	2
FANCA, ZNF276	0	1	0	0	1	0	0	0	2
FANCE, LOC129996245	0	0	0	0	2	0	0	0	2
HNF1A	0	1	0	0	1	0	0	0	2
HNF1B	0	1	0	0	1	0	0	0	2
KIF1B	0	1	0	0	1	0	0	0	2
KLC1, XRCC3	0	0	0	0	2	0	0	0	2
LOC110011216, PHOX2B	0	0	0	0	2	0	0	0	2
LOC126859871, PRKN	0	0	0	2	0	0	0	0	2
LOC130062899, STK11	0	0	1	1	0	0	0	0	2
PIK3R1	0	2	0	0	0	0	0	0	2
RAD50, TH2-LCR, TH2LCRR	0	2	0	0	0	0	0	0	2
RHEB	0	2	0	0	0	0	0	0	2
SLC49A4	0	0	0	0	2	0	0	0	2
TMEM127	0	2	0	0	0	0	0	0	2
U2AF1	0	2	0	0	0	0	0	0	2
VHL	0	0	0	0	2	0	0	0	2
XPA	0	1	0	0	1	0	0	0	2
intergenic	0	1	1	0	0	0	0	0	1
ABCA3, BRICD5, CASKIN1, DNASE1L2, E4F1, ECI1, LOC112340386, LOC112340387, LOC129390754, LOC130058211, LOC130058212, LOC130058213, LOC130058214, LOC130058215, LOC130058216, LOC130058217, LOC130058218, LOC130058219, LOC130058220, LOC130058221, LOC130058222, LOC130058223, LOC130058224, LOC130058225, LOC130058226, LOC130058227, LOC130058228, MIR1225, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR6511B1, MIR940, MLST8, PGP, PKD1, RAB26, RNPS1, SNHG19, SNORD60, TRAF7, TSC2	0	0	1	0	0	0	0	0	1
ABCB1	0	0	0	0	0	0	0	1	1
ABCG2	0	0	0	0	0	0	0	1	1
ALK, ARHGEF33, ATL2, BIRC6, CAPN13, CAPN14, CDC42EP3, CDKL4, CEBPZ, CRIM1, CYP1B1, DHX57, DPY30, EHD3, EIF2AK2, EML4, FAM98A, FEZ2, GALM, GALNT14, GEMIN6, GPATCH11, HEATR5B, HNRNPLL, LBH, LCLAT1, LINC02898, LTBP1, MAP4K3, MEMO1, MORN2, NDUFAF7, NLRC4, PKDCC, PRKD3, QPCT, RASGRP3, RMDN2, SLC30A6, SLC8A1, SOS1, SOS1-IT1, SPAST, SRD5A2, SRSF7, STRN, SULT6B1, THUMPD2, TMEM178A, TTC27, VIT, XDH, YIPF4, YPEL5	0	1	0	0	0	0	0	0	1
AR, LOC109504725	0	0	0	0	1	0	0	0	1
AREL1, MLH3	1	0	0	0	0	0	0	0	1
ARID1A	0	0	0	0	0	1	0	0	1
BIVM-ERCC5, ERCC5, LOC126861834	0	0	0	0	1	0	0	0	1
BMPR1A	0	1	0	0	0	0	0	0	1
BUB1B, BUB1B-PAK6	0	0	0	0	1	0	0	0	1
C12orf43, HNF1A	0	0	0	0	1	0	0	0	1
CBL	0	1	0	0	0	0	0	0	1
CDC73	0	0	0	0	1	0	0	0	1
CDH1, LOC130059290	0	0	0	0	1	0	0	0	1
CDK4, TSPAN31	0	0	0	0	1	0	0	0	1
CDKN2A, LOC130001603	1	0	0	0	0	0	0	0	1
DDB2, LOC126861205	0	0	0	0	1	0	0	0	1
EPCAM	0	0	0	0	1	0	0	0	1
ERCC4, LOC130058543	0	1	0	0	0	0	0	0	1
FANCC	0	0	1	0	0	0	0	0	1
FANCM	1	0	0	0	0	0	0	0	1
FGFR3, LOC116158483, LOC129992009, LOC129992010, LOC129992011, LOC129992012, TACC3	0	1	0	0	0	0	0	0	1
GATA3	0	0	0	0	0	0	0	1	1
GPC3	0	0	0	0	1	0	0	0	1
LOC100507346, PTCH1	0	0	0	0	1	0	0	0	1
LOC126860438, NBN	0	0	1	0	0	0	0	0	1
LOC129931243, TRIM33	0	0	0	0	1	0	0	0	1
LOC129937389, SLC49A4	0	0	0	0	1	0	0	0	1
LOC129999452, TRIM24	0	0	0	0	1	0	0	0	1
LOC130061311, RAD51C	1	0	0	0	0	0	0	0	1
MEN1	0	0	0	0	1	0	0	0	1
MYCN, MYCNOS	0	1	0	0	0	0	0	0	1
NQO2	0	0	0	0	1	0	0	0	1
OPCML	1	0	0	0	0	0	0	0	1
PHB1	0	0	0	0	1	0	0	0	1
PHOX2B	0	0	0	0	1	0	0	0	1
PPM1D	0	1	0	0	0	0	0	0	1
RAD51	0	0	0	0	1	0	0	0	1
RRAS2	1	0	0	0	0	0	0	0	1
SDHC	0	0	0	0	1	0	0	0	1
SMARCA4	0	0	0	0	1	0	0	0	1
SMARCB1	0	1	0	0	0	0	0	0	1
SOS1	0	1	0	0	0	0	0	0	1
WT1	0	0	0	0	1	0	0	0	1
XRCC3	0	0	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 59

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	established risk allele	not provided	total
Baylor Genetics	108	230	975	1	0	0	0	0	1314
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University	0	231	0	0	370	0	0	0	601
Database of Curated Mutations (DoCM)	17	388	0	0	0	0	0	2	399
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne	220	166	0	0	0	0	0	0	386
Fulgent Genetics, Fulgent Genetics	37	7	99	42	10	0	0	0	195
Department of Pathology and Laboratory Medicine, Sinai Health System	51	6	71	40	23	0	0	0	191
Counsyl	8	33	103	34	11	0	0	0	189
CZECANCA consortium	43	4	0	0	0	0	0	0	47
Department of Zoology Govt. MVM College	0	24	0	0	0	0	0	0	24
OMIM	19	0	0	0	0	0	0	0	19
3DMed Clinical Laboratory Inc	11	1	6	1	0	0	0	0	19
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences	14	3	0	0	0	0	0	0	17
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University	0	15	0	0	0	0	0	0	15
Laboratory of Translational Genomics, National Cancer Institute	0	0	0	0	0	0	0	14	14
University Health Network, Princess Margaret Cancer Centre	12	1	1	0	0	0	0	0	14
Centre for Mendelian Genomics, University Medical Centre Ljubljana	6	0	6	1	0	0	0	0	13
BRCAlab, Lund University	11	2	0	0	0	0	0	0	13
Institute of Human Genetics, University of Leipzig Medical Center	5	0	1	1	2	0	0	0	9
CSER _CC_NCGL, University of Washington	2	0	5	1	0	0	0	0	8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	6	1	1	0	0	0	0	0	8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	2	0	6	0	0	0	0	0	8
Mendelics	6	0	1	0	0	0	0	0	7
Leiden Open Variation Database	4	0	3	0	0	0	0	0	7
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel	0	0	3	3	1	0	0	0	7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	6	0	0	0	0	0	0	0	6
Genetics and Molecular Pathology, SA Pathology	0	0	4	1	0	0	0	0	5
Neuberg Centre For Genomic Medicine, NCGM	0	1	4	0	0	0	0	0	5
China-NCC-Department of Gynecologic Oncology, Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College	5	0	0	0	0	0	0	0	5
GeneKor MSA	4	0	0	0	0	0	0	0	4
Department of Molecular Diagnostics, Institute of Oncology Ljubljana	3	1	0	0	0	0	0	0	4
Western Connecticut Health Network, Rudy L. Ruggles Biomedical Research Institute	3	0	1	0	0	0	0	0	4
King Laboratory, University of Washington	3	0	0	0	0	0	0	0	3
Centogene AG - the Rare Disease Company	1	2	0	0	0	0	0	0	3
GenomeConnect, ClinGen	0	0	0	0	0	0	0	3	3
Precision Medicine Oncology, Rutgers Cancer Institute of New Jersey	0	2	1	0	0	0	0	0	3
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	0	0	3	3
Institute of Human Genetics, University of Wuerzburg	1	0	1	0	0	0	0	0	2
MVZ Praenatalmedizin und Genetik Nuernberg	0	1	1	0	0	0	0	0	2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	1	1	0	0	0	0	0	0	2
Human Cancer Genomic Research, King Faisal Specialist Hospital and Research Center	2	0	0	0	0	0	0	0	2
ACT Genomics,	0	0	1	1	0	0	0	0	2
Molecular Genetics Lab, CHRU Brest	2	0	0	0	0	0	0	0	2
Martignetti Lab, Icahn School of Medicine at Mount Sinai	0	0	0	0	0	2	0	0	2
MGZ Medical Genetics Center	1	0	0	0	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	0	0	0	0	0	0	1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	0	0	0	1	0	0	0	1
Rare Disease Group, Clinical Genetics, Karolinska Institutet	1	0	0	0	0	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	0	0	0	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	1	0	0	0	1
Department of Pathology, Brigham and Women's Hospital	0	1	0	0	0	0	0	0	1
Division of Medical Genetics, University of Washington	0	0	1	0	0	0	0	0	1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ	1	0	0	0	0	0	0	0	1
Swisher Lab, University of Washington	0	1	0	0	0	0	0	0	1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar	1	0	0	0	0	0	0	0	1
Human Genetics Bochum, Ruhr University Bochum	0	0	1	0	0	0	0	0	1
Gynecological Pathology Laboratory, Kaohsiung Medical University Chung-Ho Memorial Hospital	0	0	0	0	0	0	1	0	1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	0	1	0	0	0	0	0	0	1
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	0	1	0	0	0	0	0	1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg	1	0	0	0	0	0	0	0	1

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