| - GRCh37:
- Chr16:68846136
- GRCh38:
- Chr16:68812233
| CDH1 | N369K | Malignant tumor of prostate, Hereditary diffuse gastric adenocarcinoma, Blepharocheilodontic syndrome 1
| Uncertain significance (Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32936757
- GRCh38:
- Chr13:32362620
| BRCA2 | E2603*, E2635*, E496*, E991* | Malignant tumor of prostate | Likely pathogenic (May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:89623473-89623474
- GRCh38:
- Chr10:87863716-87863717
| PTEN | | Familial meningioma, Malignant tumor of prostate, Glioma susceptibility 2, Cowden syndrome 1, Macrocephaly-autism syndrome, Hereditary cancer-predisposing syndrome
| Uncertain significance (Jan 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:66937330
- GRCh38:
- ChrX:67717488
| AR | N196K, N728K | Malignant tumor of prostate | Pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:66863132
- GRCh38:
- ChrX:67643290
| AR | D19H, D551H | Malignant tumor of prostate | Pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:66863125
- GRCh38:
- ChrX:67643283
| AR | L16F, L548F | Malignant tumor of prostate | Pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:66766196
- GRCh38:
- ChrX:67546354
| AR | A403V | Malignant tumor of prostate | Pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:66766183
- GRCh38:
- ChrX:67546341
| AR | W399R | Malignant tumor of prostate | Pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:66766163
- GRCh38:
- ChrX:67546321
| AR | P392R | Malignant tumor of prostate, not specified | Conflicting interpretations of pathogenicity (Aug 4, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:66766051
- GRCh38:
- ChrX:67546209
| AR | E355Q | Malignant tumor of prostate | Pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:66766013
- GRCh38:
- ChrX:67546171
| AR | P342L | Malignant tumor of prostate | Uncertain significance (Jan 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:66765196
- GRCh38:
- ChrX:67545354
| AR, LOC109504725 | Q70* | Malignant tumor of prostate | Pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:66764995
- GRCh38:
- ChrX:67545153
| AR | V3M | Ovarian cancer, Androgen resistance syndrome, Malignant tumor of prostate, Kennedy disease, Partial androgen insensitivity syndrome, Hypospadias 1, X-linked, Androgen resistance syndrome, Kennedy disease | Conflicting interpretations of pathogenicity (Feb 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:89711975
- GRCh38:
- Chr10:87952218
| PTEN | M198T, M1T, M371T | Familial meningioma, Cowden syndrome 1, Macrocephaly-autism syndrome, Malignant tumor of prostate, Glioma susceptibility 2, PTEN hamartoma tumor syndrome
| Uncertain significance (May 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32913281-32913282
- GRCh38:
- Chr13:32339144-32339145
| BRCA2 | L1598fs | Wilms tumor 1, Breast-ovarian cancer, familial, susceptibility to, 2, Malignant tumor of prostate, Glioma susceptibility 3, Medulloblastoma, Familial cancer of breast, Pancreatic cancer, susceptibility to, 2, Fanconi anemia complementation group D1, Hereditary breast ovarian cancer syndrome
| Pathogenic (Apr 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:66905875
- GRCh38:
- ChrX:67686033
| AR | Q570R, S598G, S66G | Malignant tumor of prostate, Kennedy disease, Androgen resistance syndrome, Non-obstructive azoospermia | Conflicting interpretations of pathogenicity (Jun 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:68849589
- GRCh38:
- Chr16:68815686
| CDH1 | D437N, D498N | not provided, Familial cancer of breast, Blepharocheilodontic syndrome 1, Endometrial carcinoma, Hereditary diffuse gastric adenocarcinoma, Neoplasm of ovary, Malignant tumor of prostate, Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
| Uncertain significance (Mar 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:68771547
- GRCh38:
- Chr16:68737644
| CDH1 | | not provided, Familial cancer of breast, Hereditary diffuse gastric adenocarcinoma, Blepharocheilodontic syndrome 1, Malignant tumor of prostate | Benign (Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:66765158-66765159
- GRCh38:
- ChrX:67545316-67545317
| AR, LOC109504725 | | Androgen resistance syndrome, Partial androgen insensitivity syndrome, Kennedy disease, Hypospadias 1, X-linked, Malignant tumor of prostate, not provided
| Likely benign (Dec 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32903591
- GRCh38:
- Chr13:32329454
| BRCA2 | E215fs | Hereditary breast ovarian cancer syndrome | Pathogenic (May 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32913926
- GRCh38:
- Chr13:32339789
| BRCA2 | E1812K | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Breast-ovarian cancer, familial, susceptibility to, 2, Fanconi anemia complementation group D1, Wilms tumor 1, Glioma susceptibility 3, Medulloblastoma, Malignant tumor of prostate, Pancreatic cancer, susceptibility to, 2
| Conflicting interpretations of pathogenicity (Mar 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:35872053
- GRCh38:
- Chr14:35402847
| NFKBIA | L187P | Malignant tumor of prostate | Likely benign | no assertion criteria provided |
| - GRCh37:
- ChrX:66766289
- GRCh38:
- ChrX:67546447
| AR | S434F | Androgen resistance syndrome, Kennedy disease, Malignant tumor of prostate, Non-obstructive azoospermia | Conflicting interpretations of pathogenicity (May 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29108007
- GRCh38:
- Chr22:28712019
| CHEK2 | | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Familial cancer of breast, Malignant tumor of prostate, Bone osteosarcoma, Li-Fraumeni syndrome 2, Colorectal cancer | Pathogenic/Likely pathogenic (Jun 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:108173599
- GRCh38:
- Chr11:108302872
| ATM | F1780C | Malignant tumor of prostate, Ataxia-telangiectasia syndrome | Uncertain significance (May 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:66765148-66765149
- GRCh38:
- ChrX:67545306-67545307
| AR | | Malignant tumor of prostate, Androgen resistance syndrome, Kennedy disease
| Pathogenic (Jun 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:66765176
- GRCh38:
- ChrX:67545334
| AR, LOC109504725 | Q63L | Kennedy disease, Androgen resistance syndrome, Malignant tumor of prostate
| Uncertain significance (Aug 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:66909686
- GRCh38:
- ChrX:67689844
| AR | | Malignant tumor of prostate | Uncertain significance (Sep 23, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr22:29106044
- GRCh38:
- Chr22:28710056
| CHEK2 | P199T, P266T, P309T, P45T | Familial cancer of breast, CHEK2-related condition, Hereditary cancer-predisposing syndrome, Familial cancer of breast, Bone osteosarcoma, Malignant tumor of prostate, Li-Fraumeni syndrome 2, Colorectal cancer | Uncertain significance (Dec 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:89623475
- GRCh38:
- Chr10:87863718
| PTEN | | Malignant tumor of prostate, Familial meningioma, Glioma susceptibility 2, Macrocephaly-autism syndrome, Cowden syndrome 1, not specified, Hereditary cancer-predisposing syndrome | Uncertain significance (Aug 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:89725206
- GRCh38:
- Chr10:87965449
| PTEN | H397Y, H570Y, H200Y | Familial meningioma, Glioma susceptibility 2, Cowden syndrome 1, Macrocephaly-autism syndrome, Malignant tumor of prostate, Hereditary cancer-predisposing syndrome
| Uncertain significance (Nov 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:66765516
- GRCh38:
- ChrX:67545674
| AR | S176R | Kennedy disease, Hypospadias 1, X-linked, Partial androgen insensitivity syndrome, Androgen resistance syndrome, Malignant tumor of prostate, not provided, Androgen resistance syndrome | Benign/Likely benign (Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:85623658
- GRCh38:
- Chr4:84702505
| WDFY3 | G2815V | Malignant tumor of prostate | Likely pathogenic (May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:47696653
- GRCh38:
- Chr17:49619291
| SPOP | R99W | not provided | Likely pathogenic (Jan 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:47696655
- GRCh38:
- Chr17:49619293
| SPOP | V98D | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696657
- GRCh38:
- Chr17:49619295
| SPOP | | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696659
- GRCh38:
- Chr17:49619297
| SPOP | E97K | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696660
- GRCh38:
- Chr17:49619298
| SPOP | S96fs | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696661
- GRCh38:
- Chr17:49619299
| SPOP | S96fs | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696662-47696663
- GRCh38:
- Chr17:49619300-49619301
| SPOP | S96fs | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696664
- GRCh38:
- Chr17:49619302
| SPOP | K95fs | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696665-47696666
- GRCh38:
- Chr17:49619303-49619304
| SPOP | K95fs | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696667
- GRCh38:
- Chr17:49619305
| SPOP | P94fs | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696668
- GRCh38:
- Chr17:49619306
| SPOP | P94S | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696670
- GRCh38:
- Chr17:49619308
| SPOP | C93fs | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696671-47696672
- GRCh38:
- Chr17:49619309-49619310
| SPOP | C93fs | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696674
- GRCh38:
- Chr17:49619312
| SPOP | S92fs | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696675
- GRCh38:
- Chr17:49619313
| SPOP | S92fs | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696675
- GRCh38:
- Chr17:49619313
| SPOP | | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696675-47696676
- GRCh38:
- Chr17:49619313-49619314
| SPOP | S92fs | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696679
- GRCh38:
- Chr17:49619317
| SPOP | L90fs | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696681
- GRCh38:
- Chr17:49619319
| SPOP | | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696682
- GRCh38:
- Chr17:49619320
| SPOP | L89* | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696682
- GRCh38:
- Chr17:49619320
| SPOP | L89fs | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696685
- GRCh38:
- Chr17:49619323
| SPOP | L88Q | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696688
- GRCh38:
- Chr17:49619326
| SPOP | Y87fs | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696687-47696688
- GRCh38:
- Chr17:49619325-49619326
| SPOP | Y87* | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696738
- GRCh38:
- Chr17:49619376
| SPOP | | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696739
- GRCh38:
- Chr17:49619377
| SPOP | R70P | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696741-47696742
- GRCh38:
- Chr17:49619379-49619380
| SPOP | L69fs | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696749
- GRCh38:
- Chr17:49619387
| SPOP | | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696748
- GRCh38:
- Chr17:49619386
| SPOP | | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696756-47696757
- GRCh38:
- Chr17:49619394-49619395
| SPOP | | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696338
- GRCh38:
- Chr17:49618976
| SPOP | | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696292
- GRCh38:
- Chr17:49618930
| SPOP | | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696304
- GRCh38:
- Chr17:49618942
| SPOP | | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696305
- GRCh38:
- Chr17:49618943
| SPOP | | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696315
- GRCh38:
- Chr17:49618953
| SPOP | | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696326
- GRCh38:
- Chr17:49618964
| SPOP | | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47695272
- GRCh38:
- Chr17:49617910
| SPOP | | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47695278
- GRCh38:
- Chr17:49617916
| SPOP | | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47695284
- GRCh38:
- Chr17:49617922
| SPOP | | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696345
- GRCh38:
- Chr17:49618983
| SPOP | E160K | Neurodevelopmental disorder with microcephaly and dysmorphic facies | Pathogenic (Nov 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:47696348
- GRCh38:
- Chr17:49618986
| SPOP | C159fs | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696349
- GRCh38:
- Chr17:49618987
| SPOP | C159fs | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696349
- GRCh38:
- Chr17:49618987
| SPOP | F158L | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696350
- GRCh38:
- Chr17:49618988
| SPOP | F158C | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696350
- GRCh38:
- Chr17:49618988
| SPOP | F158Y | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696351
- GRCh38:
- Chr17:49618989
| SPOP | F158L | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696351
- GRCh38:
- Chr17:49618989
| SPOP | F158I | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696353
- GRCh38:
- Chr17:49618991
| SPOP | L157P | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696407
- GRCh38:
- Chr17:49619045
| SPOP | R139fs | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696410
- GRCh38:
- Chr17:49619048
| SPOP | R138H | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696415
- GRCh38:
- Chr17:49619053
| SPOP | F136L | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696420-47696421
- GRCh38:
- Chr17:49619058-49619059
| SPOP | K135fs | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696422
- GRCh38:
- Chr17:49619060
| SPOP | K134fs | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696422
- GRCh38:
- Chr17:49619060
| SPOP | K134R | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696423
- GRCh38:
- Chr17:49619061
| SPOP | K134Q | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696424
- GRCh38:
- Chr17:49619062
| SPOP | F133fs | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696426
- GRCh38:
- Chr17:49619064
| SPOP | F133L | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696435
- GRCh38:
- Chr17:49619073
| SPOP | D130Y | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696435
- GRCh38:
- Chr17:49619073
| SPOP | D130N | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696437
- GRCh38:
- Chr17:49619075
| SPOP | K129T | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696439
- GRCh38:
- Chr17:49619077
| SPOP | D130fs | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696439
- GRCh38:
- Chr17:49619077
| SPOP | | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696439
- GRCh38:
- Chr17:49619077
| SPOP | | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696439
- GRCh38:
- Chr17:49619077
| SPOP | | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696442
- GRCh38:
- Chr17:49619080
| SPOP | | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696446
- GRCh38:
- Chr17:49619084
| SPOP | V126G | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr17:47696448
- GRCh38:
- Chr17:49619086
| SPOP | F125L | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |