ClinVar for MedGen (Select 419810) - ClinVar - NCBI

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Items: 15

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 9790451.	NC_000008.11:g.127467731T>C GRCh37: Chr8:128479976 GRCh38: Chr8:127467731	CASC8		Familial prostate carcinoma	association	no assertion criteria provided
Select item 9790442.	NC_000008.11:g.127325028_127325029dup GRCh37: Chr8:128337272-128337273 GRCh38: Chr8:127325027-127325028	CASC21, CASC8		Familial prostate carcinoma	association	no assertion criteria provided
Select item 9790433.	NC_000008.11:g.127273164ATAA[1] GRCh37: Chr8:128285409-128285412 GRCh38: Chr8:127273164-127273167	CASC21		Familial prostate carcinoma	association	no assertion criteria provided
Select item 9790424.	NC_000008.11:g.127196124A>G GRCh37: Chr8:128208369 GRCh38: Chr8:127196124	CASC19		Familial prostate carcinoma	association	no assertion criteria provided
Select item 9790415.	NC_000008.11:g.127193633G>T GRCh37: Chr8:128205878 GRCh38: Chr8:127193633	CASC19		Familial prostate carcinoma	association	no assertion criteria provided
Select item 9790406.	NC_000008.11:g.127179427T>A GRCh37: Chr8:128191672 GRCh38: Chr8:127179427			Familial prostate carcinoma	association	no assertion criteria provided
Select item 9790397.	NR_109833.1(PRNCR1):n.11999A>G GRCh37: Chr8:128104117 GRCh38: Chr8:127091872	PRNCR1		Familial prostate carcinoma	association	no assertion criteria provided
Select item 9790388.	NC_000008.11:g.126929548G>A GRCh37: Chr8:127941793 GRCh38: Chr8:126929548	LOC105375751		Familial prostate carcinoma	association	no assertion criteria provided
Select item 8253479.	NM_000051.4(ATM):c.4990G>T (p.Glu1664Ter) GRCh37: Chr11:108168094 GRCh38: Chr11:108297367	ATM	E1664*	Familial prostate carcinoma, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome, not provided	Pathogenic/Likely pathogenic (May 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42832010.	NM_000179.3(MSH6):c.3514_3515insAA (p.Arg1172fs) GRCh37: Chr2:48032123-48032124 GRCh38: Chr2:47804984-47804985	MSH6	R1172fs, R870fs, R1042fs	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Familial prostate carcinoma, Lynch syndrome 5	Pathogenic/Likely pathogenic (Feb 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 23383711.	NM_000051.4(ATM):c.4236+1G>T GRCh37: Chr11:108159831 GRCh38: Chr11:108289104	ATM		Familial prostate carcinoma, Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome	Likely pathogenic (Jun 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 23045512.	NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter) GRCh37: Chr22:29085179 GRCh38: Chr22:28689191	CHEK2	Q496, Q275, Q429, Q467, Q539*	Familial cancer of breast, not provided, Familial prostate carcinoma, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Sep 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 14279113.	NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) GRCh37: Chr11:108205807 GRCh38: Chr11:108335080	ATM, C11orf65	D2708N	Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome, Familial prostate carcinoma, not provided, Ataxia-telangiectasia syndrome	Pathogenic/Likely pathogenic (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 12803114.	NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) GRCh37: Chr17:46805705 GRCh38: Chr17:48728343	HOXB13	G84E	HOXB13-related disorders, HOXB13-Related Cancer Predisposition, Prostate cancer, hereditary, 9, Hereditary cancer-predisposing syndrome, Familial prostate carcinoma, not provided, Prostate cancer susceptibility	Conflicting interpretations of pathogenicity; association (Aug 15, 2023)	criteria provided, conflicting interpretations
Select item 5517315.	NM_007294.4(BRCA1):c.4339C>T (p.Gln1447Ter) GRCh37: Chr17:41234439 GRCh38: Chr17:43082422	BRCA1	Q1447, Q344, Q1400, Q1278, Q1336, Q1399, Q1419, Q1421, Q295, Q297, Q299, Q302, Q303, Q304, Q341, Q579, Q1151, Q1357, Q1377, Q1379, Q1398, Q1404, Q1420, Q176, Q217, Q235, Q255, Q263, Q273, Q317, Q342, Q1319, Q1320, Q1358, Q1359, Q1375, Q1405, Q1406, Q1446, Q231, Q264, Q274, Q277, Q296, Q318, Q343, Q1334, Q1335, Q1376, Q1380, Q1443, Q1445, Q216, Q233, Q234, Q256, Q276, Q305, Q578*	Breast-ovarian cancer, familial, susceptibility to, 1	Pathogenic (Sep 8, 2016)	reviewed by expert panel