ClinVar for MedGen (Select 854012) - ClinVar

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Items: 71

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25845041.	NM_000051.4(ATM):c.3973G>T (p.Glu1325Ter) GRCh37: Chr11:108155180 GRCh38: Chr11:108284453	ATM	E1325*	Breast cancer, susceptibility to	Likely pathogenic	criteria provided, single submitter
Select item 16837602.	NM_001142556.2(HMMR):c.1928T>C (p.Val643Ala) GRCh37: Chr5:162911217 GRCh38: Chr5:163484211	HMMR, HMMR-AS1	V556A, V627A, V642A, V643A	Breast cancer, susceptibility to	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 9791373.	NM_024675.4(PALB2):c.1299G>T (p.Leu433Phe) GRCh37: Chr16:23646568 GRCh38: Chr16:23635247	PALB2	L433F	Breast cancer, susceptibility to, Pancreatic cancer, susceptibility to, 3	Uncertain significance	criteria provided, single submitter
Select item 9790784.	NM_024675.4(PALB2):c.2974_2975del (p.Met992fs) GRCh37: Chr16:23634311-23634312 GRCh38: Chr16:23622990-23622991	PALB2	M992fs	Breast cancer, susceptibility to, Pancreatic cancer, susceptibility to, 3, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Oct 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 8500155.	NM_007194.4(CHEK2):c.468C>G (p.Tyr156Ter) GRCh37: Chr22:29121089 GRCh38: Chr22:28725101	CHEK2	Y156, Y199	Familial cancer of breast, Prostate cancer, susceptibility to, Breast cancer, susceptibility to	Pathogenic/Likely pathogenic (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8191856.	NM_000051.4(ATM):c.1464G>A (p.Trp488Ter) GRCh37: Chr11:108121656 GRCh38: Chr11:108250929	ATM	W488*	Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome, Breast cancer, susceptibility to, Hereditary cancer-predisposing syndrome, Abnormal central motor function	Conflicting interpretations of pathogenicity (Jul 15, 2022)	criteria provided, conflicting interpretations
Select item 5829267.	NM_024675.4(PALB2):c.2515-1G>A GRCh37: Chr16:23640597 GRCh38: Chr16:23629276	PALB2		Familial cancer of breast, Breast cancer, susceptibility to, Pancreatic cancer, susceptibility to, 3, Hereditary cancer-predisposing syndrome	Likely pathogenic (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 5827618.	NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter) GRCh37: Chr11:108235869 GRCh38: Chr11:108365142	ATM, C11orf65	Q2971*	Ataxia-telangiectasia syndrome, Breast cancer, susceptibility to, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome	Pathogenic/Likely pathogenic (Oct 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 5454919.	NM_000059.4(BRCA2):c.8465_8472del (p.Ile2822fs) GRCh37: Chr13:32944671-32944678 GRCh38: Chr13:32370534-32370541	BRCA2	I2822fs	Breast cancer, susceptibility to	Likely pathogenic (Mar 25, 2018)	criteria provided, single submitter
Select item 54549010.	NM_000455.5(STK11):c.428T>C (p.Val143Ala) GRCh37: Chr19:1219376 GRCh38: Chr19:1219377	STK11	V143A	Breast cancer, susceptibility to	Uncertain significance (Mar 25, 2018)	criteria provided, single submitter
Select item 54548811.	NM_000059.4(BRCA2):c.4025G>A (p.Ser1342Asn) GRCh37: Chr13:32912517 GRCh38: Chr13:32338380	BRCA2	S1342N	BRCA2-related condition, Ovarian cancer, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Breast cancer, susceptibility to	Conflicting interpretations of pathogenicity (Apr 27, 2023)	criteria provided, conflicting interpretations
Select item 54548712.	NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile) GRCh37: Chr13:32937504 GRCh38: Chr13:32363367	BRCA2	T2722I	Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast cancer, susceptibility to	Conflicting interpretations of pathogenicity (Nov 18, 2022)	criteria provided, conflicting interpretations
Select item 54548613.	NM_000059.4(BRCA2):c.8477A>T (p.Tyr2826Phe) GRCh37: Chr13:32944684 GRCh38: Chr13:32370547	BRCA2	Y2826F	Hereditary cancer-predisposing syndrome, Breast cancer, susceptibility to	Uncertain significance (Oct 18, 2018)	criteria provided, multiple submitters, no conflicts
Select item 54548514.	NM_000059.4(BRCA2):c.6149dup (p.Asn2051fs) GRCh37: Chr13:32914640-32914641 GRCh38: Chr13:32340503-32340504	BRCA2	N2051fs	Breast cancer, susceptibility to	Likely pathogenic (Mar 25, 2018)	criteria provided, single submitter
Select item 54548415.	NM_000059.4(BRCA2):c.266C>A (p.Pro89Gln) GRCh37: Chr13:32893412 GRCh38: Chr13:32319275	BRCA2	P89Q	Breast cancer, susceptibility to	Uncertain significance (Mar 25, 2018)	criteria provided, single submitter
Select item 54548316.	NM_000059.4(BRCA2):c.8713dup (p.Tyr2905fs) GRCh37: Chr13:32950884-32950885 GRCh38: Chr13:32376747-32376748	BRCA2	Y2905fs	Breast cancer, susceptibility to	Likely pathogenic (Mar 25, 2018)	criteria provided, single submitter
Select item 54548217.	NM_007294.4(BRCA1):c.1442dup (p.Ile482fs) GRCh37: Chr17:41246105-41246106 GRCh38: Chr17:43094088-43094089	BRCA1	I435fs, I482fs, I354fs, I355fs, I371fs, I186fs, I411fs, I415fs, I440fs, I456fs, I479fs, I481fs, I314fs, I393fs, I412fs, I441fs, I370fs, I394fs, I414fs, I434fs, I455fs	Breast cancer, susceptibility to	Likely pathogenic (Mar 25, 2018)	criteria provided, single submitter
Select item 54548118.	NM_007294.4(BRCA1):c.4579_4580delinsAT (p.Glu1527Met) GRCh37: Chr17:41226443-41226444 GRCh38: Chr17:43074426-43074427	BRCA1	E1548M, E423M, E1480M, E1527M, E1230M, E1437M, E1455M, E1479M, E256M, E334M, E352M, E353M, E357M, E375M, E384M, E385M, E397M, E398M, E421M, E658M, E1399M, E1416M, E1457M, E1458M, E1460M, E1483M, E1485M, E1499M, E1501M, E1400M, E1438M, E1439M, E1456M, E1478M, E1484M, E1522M, E1523M, E1524M, E1525M, E296M, E311M, E354M, E399M, E420M, E422M, E659M, E1508M, E1549M, E310M, E314M, E315M, E336M, E356M, E376M, E377M, E379M, E381M, E383M, E445M, E1231M, E1358M, E1398M, E1414M, E1415M, E1486M, E1500M, E1507M, E1526M, E1547M, E297M, E335M, E342M, E344M, E382M, E424M, E446M	Hereditary cancer-predisposing syndrome, Breast cancer, susceptibility to	Uncertain significance (Feb 28, 2020)	criteria provided, multiple submitters, no conflicts
Select item 54548019.	NM_007294.4(BRCA1):c.272G>A (p.Cys91Tyr) GRCh37: Chr17:41256914 GRCh38: Chr17:43104897	BRCA1	C91Y, C44Y, C47Y, C21Y, C65Y	Breast cancer, susceptibility to	Uncertain significance (Mar 25, 2018)	criteria provided, single submitter
Select item 54547920.	NM_007294.4(BRCA1):c.1324T>A (p.Cys442Ser) GRCh37: Chr17:41246224 GRCh38: Chr17:43094207	BRCA1	C442S, C395S, C330S, C331S, C372S, C415S, C416S, C274S, C315S, C400S, C401S, C314S, C353S, C354S, C375S, C394S, C146S, C371S, C374S, C439S, C441S	Hereditary cancer-predisposing syndrome, Breast cancer, susceptibility to	Conflicting interpretations of pathogenicity (Mar 23, 2023)	criteria provided, conflicting interpretations
Select item 53076821.	NM_002485.5(NBN):c.1530G>C (p.Glu510Asp) GRCh37: Chr8:90965787 GRCh38: Chr8:89953559	NBN	E510D, E428D	Microcephaly, normal intelligence and immunodeficiency, not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49162622.	NM_007194.4(CHEK2):c.606dup (p.Asp203Ter) GRCh37: Chr22:29115459-29115460 GRCh38: Chr22:28719471-28719472	CHEK2	D203, D246	Breast cancer, susceptibility to, Prostate cancer, susceptibility to, Hereditary cancer-predisposing syndrome, Familial cancer of breast	Pathogenic/Likely pathogenic (Jun 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 48172623.	NM_007194.4(CHEK2):c.319+1G>A GRCh37: Chr22:29130390 GRCh38: Chr22:28734402	CHEK2		Familial cancer of breast, Breast cancer, susceptibility to, Prostate cancer, susceptibility to, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Jun 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 47937624.	NM_000059.4(BRCA2):c.112G>A (p.Glu38Lys) GRCh37: Chr13:32893258 GRCh38: Chr13:32319121	BRCA2	E38K	Breast cancer, susceptibility to, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, not provided	Uncertain significance (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40769925.	NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter) GRCh37: Chr11:108143509 GRCh38: Chr11:108272782	ATM	E1072*	Ataxia-telangiectasia syndrome, Breast cancer, susceptibility to, Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome, not provided	Pathogenic (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40228926.	NM_024675.4(PALB2):c.108+1G>A GRCh37: Chr16:23649390 GRCh38: Chr16:23638069	PALB2		Breast cancer, susceptibility to, Pancreatic cancer, susceptibility to, 3, Hereditary cancer-predisposing syndrome, Familial cancer of breast, not provided	Likely pathogenic (May 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 25242427.	NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter) GRCh37: Chr13:32912375 GRCh38: Chr13:32338238	BRCA2	Q1295*	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Dec 15, 2017)	reviewed by expert panel
Select item 24581528.	NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter) GRCh37: Chr11:108175528 GRCh38: Chr11:108304801	ATM	R1875*	Ataxia-telangiectasia syndrome, Breast cancer, susceptibility to, Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast	Pathogenic (Dec 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23763729.	NM_000314.8(PTEN):c.1054GAG[1] (p.Glu353del) GRCh37: Chr10:89725071-89725073 GRCh38: Chr10:87965314-87965316	PTEN	E353del, E156del, E526del	Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome, Breast cancer, susceptibility to	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 23217730.	NM_000059.4(BRCA2):c.2719A>G (p.Lys907Glu) GRCh37: Chr13:32911211 GRCh38: Chr13:32337074	BRCA2	K907E	not provided, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Breast cancer, susceptibility to	Conflicting interpretations of pathogenicity (Mar 23, 2023)	criteria provided, conflicting interpretations
Select item 21666231.	NM_007294.4(BRCA1):c.3356C>G (p.Thr1119Ser) GRCh37: Chr17:41244192 GRCh38: Chr17:43092175	BRCA1, LOC126862571	T1119S, T1072S, T1008S, T1048S, T951S, T1030S, T1031S, T1078S, T1093S, T1118S, T823S, T991S, T992S, T1049S, T1051S, T1071S, T1092S, T1116S, T1007S, T1052S, T1077S	Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast cancer, susceptibility to	Conflicting interpretations of pathogenicity (Mar 23, 2023)	criteria provided, conflicting interpretations
Select item 18651632.	NM_000051.4(ATM):c.6228del (p.Leu2077fs) GRCh37: Chr11:108188128 GRCh38: Chr11:108317401	ATM, C11orf65	L2077fs	Hereditary cancer-predisposing syndrome, Breast cancer, susceptibility to, not provided, Ataxia-telangiectasia syndrome	Pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18633033.	NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) GRCh37: Chr11:108235935 GRCh38: Chr11:108365208	ATM, C11orf65	R2993*	Hereditary cancer-predisposing syndrome, not provided, Ataxia-telangiectasia syndrome, Breast cancer, susceptibility to, Familial cancer of breast, Ataxia-telangiectasia syndrome	Pathogenic/Likely pathogenic (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18532634.	NM_000051.4(ATM):c.8988-2A>G GRCh37: Chr11:108236050 GRCh38: Chr11:108365323	ATM, C11orf65		Ataxia-telangiectasia syndrome, Breast cancer, susceptibility to, Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome	Pathogenic/Likely pathogenic (May 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18199235.	NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) GRCh37: Chr11:108142105 GRCh38: Chr11:108271378	ATM	Q1017*	Ataxia-telangiectasia syndrome, Breast cancer, susceptibility to, Hereditary cancer-predisposing syndrome, not provided, Ataxia-telangiectasia syndrome	Pathogenic/Likely pathogenic (Nov 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18186636.	NM_000051.4(ATM):c.8418+5_8418+8del GRCh37: Chr11:108214099-108214102 GRCh38: Chr11:108343372-108343375	C11orf65, ATM		Ataxia-telangiectasia syndrome, Breast cancer, susceptibility to, Hereditary cancer-predisposing syndrome, Familial cancer of breast, Ataxia-telangiectasia syndrome, not provided	Pathogenic (Feb 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 14240837.	NM_024675.4(PALB2):c.226del (p.Ile76fs) GRCh37: Chr16:23647641 GRCh38: Chr16:23636320	PALB2		Pancreatic cancer, susceptibility to, 3, Breast cancer, susceptibility to, Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3, not provided, BAP1-related tumor predisposition syndrome, Familial cancer of breast	Pathogenic/Likely pathogenic (Mar 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 14235238.	NM_007194.4(CHEK2):c.319+2T>A GRCh37: Chr22:29130389 GRCh38: Chr22:28734401	CHEK2		Breast cancer, susceptibility to, Prostate cancer, susceptibility to, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 2, Familial cancer of breast, Bone osteosarcoma, Malignant tumor of prostate, not provided, Familial cancer of breast	Pathogenic/Likely pathogenic (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 14177939.	NM_024675.4(PALB2):c.424A>T (p.Lys142Ter) GRCh37: Chr16:23647443 GRCh38: Chr16:23636122	PALB2	K142*	PALB2-related disorder, Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast, Breast cancer, susceptibility to, Malignant tumor of breast	Pathogenic (Sep 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 14156040.	NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer) GRCh37: Chr16:23634322 GRCh38: Chr16:23623001	PALB2		Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3, not provided, Familial cancer of breast, Breast cancer, susceptibility to	Pathogenic (Aug 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 14155641.	NM_000051.4(ATM):c.8397del (p.Gln2800fs) GRCh37: Chr11:108214075 GRCh38: Chr11:108343348	ATM, C11orf65	Q2800fs	Hereditary cancer-predisposing syndrome, not provided, Ataxia-telangiectasia syndrome, Breast cancer, susceptibility to	Pathogenic (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14154642.	NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) GRCh37: Chr11:108106446 GRCh38: Chr11:108235719	ATM		Breast cancer, susceptibility to, Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome, not provided, Ataxia-telangiectasia syndrome, Familial cancer of breast	Pathogenic/Likely pathogenic (Oct 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 14140443.	NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter) GRCh37: Chr11:108181032 GRCh38: Chr11:108310305	ATM, C11orf65	Q1970*	Ataxia-telangiectasia syndrome, Breast cancer, susceptibility to, Hereditary cancer-predisposing syndrome, Familial cancer of breast, Ataxia-telangiectasia syndrome, not provided, Ataxia-telangiectasia syndrome	Pathogenic (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14138444.	NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter) GRCh37: Chr2:215617196 GRCh38: Chr2:214752472	BARD1	S551, S532, S100, S81	Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast, Breast cancer, susceptibility to	Pathogenic/Likely pathogenic (Oct 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13363745.	NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter) GRCh37: Chr11:108216596 GRCh38: Chr11:108345869	C11orf65, ATM	R2849*	Breast cancer, susceptibility to, Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome, not provided, Ataxia-telangiectasia syndrome, Tip-toe gait	Pathogenic/Likely pathogenic (Dec 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12812846.	NM_024675.4(PALB2):c.2120del (p.Pro707fs) GRCh37: Chr16:23641355 GRCh38: Chr16:23630034	PALB2		Breast cancer, susceptibility to, Pancreatic cancer, susceptibility to, 3, Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast	Pathogenic (May 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 12807547.	NM_007194.4(CHEK2):c.444+1G>A GRCh37: Chr22:29121230 GRCh38: Chr22:28725242	CHEK2		Melanoma, CHEK2-Related Cancer Susceptibility, Hereditary cancer-predisposing syndrome, Familial cancer of breast, Li-Fraumeni syndrome 2, Malignant tumor of prostate, Bone osteosarcoma, Colorectal cancer, not provided, Breast and colorectal cancer, susceptibility to, Li-Fraumeni syndrome 2Familial cancer of breast, Breast cancer, susceptibility to, ...see more	Conflicting interpretations of pathogenicity (Oct 1, 2023)	criteria provided, conflicting interpretations
Select item 12807148.	NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) GRCh37: Chr22:29121326 GRCh38: Chr22:28725338	CHEK2	R117G, R160G	Familial cancer of breast, CHEK2-related disorder, not provided, Malignant tumor of breast, CHEK2-Related Cancer Susceptibility, Hereditary breast ovarian cancer syndrome, Predisposition to cancer, Prostate cancer, susceptibility to, Breast cancer, susceptibility to, Breast and/or ovarian cancer, Hereditary cancer-predisposing syndromeLi-Fraumeni syndrome 2, Familial cancer of breast, Li-Fraumeni syndrome 2, Bone osteosarcoma, Malignant tumor of prostate, Colorectal cancer, ...see more	Pathogenic/Likely pathogenic (Mar 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 12804249.	NM_007194.4(CHEK2):c.1100del (p.Thr367fs) GRCh37: Chr22:29091857 GRCh38: Chr22:28695869	CHEK2	T146fs, T338fs, T410fs, T300fs, T367fs	Predisposition to cancer, CHEK2-Related Cancer Susceptibility, CHEK2-related condition, Familial cancer of breast, Malignant tumor of prostate, Colorectal cancer, Breast and/or ovarian cancer, Familial cancer of breast, Li-Fraumeni syndrome 2, Malignant tumor of prostate, Bone osteosarcomaAstrocytoma, Colorectal cancer, Breast neoplasm, Hereditary cancer-predisposing syndrome, not provided, Hereditary breast ovarian cancer syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome, Breast and colorectal cancer, susceptibility to, Li-Fraumeni syndrome 2, Familial cancer of breast, Thrombocytopenia, Inflammation of the large intestine, Colitis, Hematochezia, ...see more	Conflicting interpretations of pathogenicity (Oct 26, 2023)	criteria provided, conflicting interpretations
Select item 12800450.	NM_005732.4(RAD50):c.2397G>C (p.Gln799His) GRCh37: Chr5:131939181 GRCh38: Chr5:132603489	RAD50	Q799H	not specified, Hereditary cancer-predisposing syndrome, not provided, Nijmegen breakage syndrome-like disorder	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 12741451.	NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) GRCh37: Chr11:108183151 GRCh38: Chr11:108312424	C11orf65, ATM	E1978*	Breast cancer, susceptibility to, Ataxia-telangiectasia syndrome, Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome, Familial cancer of breast, Ataxia-telangiectasia syndrome, not provided, Familial cancer of breast, Ataxia-telangiectasia syndrome	Pathogenic (Sep 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 12734152.	NM_000051.4(ATM):c.170G>A (p.Trp57Ter) GRCh37: Chr11:108098600 GRCh38: Chr11:108227873	ATM	W57*	Breast cancer, susceptibility to, Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast, Ataxia-telangiectasia syndrome	Pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12733753.	NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) GRCh37: Chr11:108121531 GRCh38: Chr11:108250804	ATM	R447*	Breast cancer, susceptibility to, Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome, not provided, Ataxia-telangiectasia syndrome	Pathogenic/Likely pathogenic (Feb 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 12675754.	NM_024675.4(PALB2):c.509_510del (p.Arg170fs) GRCh37: Chr16:23647357-23647358 GRCh38: Chr16:23636036-23636037	PALB2		Breast cancer, susceptibility to, Pancreatic cancer, susceptibility to, 3, PALB2-related condition, PALB2-Related Disorders, Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3, not specified, not providedBreast-ovarian cancer, familial, susceptibility to, 1, Familial cancer of breast, Fanconi anemia complementation group N, Malignant tumor of breast, ...see more	Pathogenic (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 12671555.	NM_024675.4(PALB2):c.3116del (p.Asn1039fs) GRCh37: Chr16:23625410 GRCh38: Chr16:23614089	PALB2		Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3, Hereditary breast ovarian cancer syndrome, not provided, Familial cancer of breast	Pathogenic/Likely pathogenic (May 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 12671156.	NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) GRCh37: Chr16:23632683 GRCh38: Chr16:23621362	PALB2	W1038*	Familial cancer of breast	Pathogenic (Apr 5, 2023)	reviewed by expert panel FDA Recognized Database
Select item 12664657.	NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter) GRCh37: Chr16:23641152 GRCh38: Chr16:23629831	PALB2	Q775*	Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast, Malignant tumor of breast	Pathogenic (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 12660958.	NM_024675.4(PALB2):c.1592del (p.Leu531fs) GRCh37: Chr16:23646275 GRCh38: Chr16:23634954	PALB2	L531fs	Familial cancer of breast	Pathogenic (Apr 5, 2023)	reviewed by expert panel FDA Recognized Database
Select item 12658359.	NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter) GRCh37: Chr16:23646840 GRCh38: Chr16:23635519	PALB2	Q343*	Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast	Pathogenic (Feb 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 5220560.	NM_000059.4(BRCA2):c.6841+3A>T GRCh37: Chr13:32915336 GRCh38: Chr13:32341199	BRCA2		not provided	Uncertain significance (Oct 6, 2016)	criteria provided, single submitter
Select item 1339361.	PHB:c.*729C>T GRCh37: Chr17:47481625 GRCh38: Chr17:49404263	PHB1		Breast cancer, susceptibility to	risk factor (May 19, 2001)	no assertion criteria provided
Select item 894562.	NM_005432.4(XRCC3):c.562-14A>G GRCh37: Chr14:104165927 GRCh38: Chr14:103699590	KLC1, XRCC3		Breast cancer, susceptibility to	risk factor (Jun 1, 2002)	no assertion criteria provided
Select item 804563.	NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) GRCh37: Chr2:215617178 GRCh38: Chr2:214752454	BARD1	C557S, C106S, C538S, C87S	Hereditary cancer-predisposing syndrome, not specified, Hereditary breast ovarian cancer syndrome, Familial cancer of breast	Benign/Likely benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 560364.	NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) GRCh37: Chr22:29091207 GRCh38: Chr22:28695219	CHEK2	S428F, S399F, S207F, S361F, S471F	CHEK2-Related Cancer Susceptibility, CHEK2-related cancer risk, Li-Fraumeni syndrome 2, Familial cancer of breast, Malignant tumor of prostate, Bone osteosarcoma, Colorectal cancer, Hereditary cancer-predisposing syndrome, Breast neoplasm, not provided, Hereditary breast ovarian cancer syndromeBreast and colorectal cancer, susceptibility to, Familial cancer of breast, ...see more	Conflicting interpretations of pathogenicity (Oct 1, 2023)	criteria provided, conflicting interpretations
Select item 304865.	NM_000051.4(ATM):c.146C>G (p.Ser49Cys) GRCh37: Chr11:108098576 GRCh38: Chr11:108227849	ATM	S49C	Familial cancer of breast	Benign (Mar 9, 2022)	reviewed by expert panel FDA Recognized Database
Select item 303366.	NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) GRCh37: Chr11:108143540-108143542 GRCh38: Chr11:108272813-108272815	ATM	H1082fs	Familial cancer of breast	Pathogenic (Mar 9, 2022)	reviewed by expert panel FDA Recognized Database
Select item 302367.	NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) GRCh37: Chr11:108199929 GRCh38: Chr11:108329202	ATM, C11orf65	V2424G	Familial cancer of breast	Pathogenic (Mar 9, 2022)	reviewed by expert panel FDA Recognized Database
Select item 178268.	NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter) GRCh37: Chr10:104593831 GRCh38: Chr10:102834074	CYP17A1, CYP17A1-AS1	R239*	not provided	Pathogenic (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 124669.	NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) GRCh37: Chr16:23634324 GRCh38: Chr16:23623003	PALB2	Q988*	Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast	Pathogenic (Apr 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 124570.	NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) GRCh37: Chr16:23614792 GRCh38: Chr16:23603471	PALB2	Y1183*	PALB2-Related Disorders, Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast, Fanconi anemia complementation group N	Pathogenic/Likely pathogenic (Nov 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82271.	NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) GRCh37: Chr5:112175211 GRCh38: Chr5:112839514	APC	I1307K, I1289K, I1266K, I1317K, I1325K, I1147K, I1206K, I1216K, I1282K, I1024K, I1181K, I1248K, I1279K	Colorectal cancer, Hereditary cancer-predisposing syndrome, not provided, not specified, Familial multiple polyposis syndrome, Familial adenomatous polyposis 1, Carcinoma of colon, Colorectal cancer, susceptibility to	Conflicting interpretations of pathogenicity; association; risk factor (Aug 15, 2023)	criteria provided, conflicting interpretations

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Items: 71