ClinVar for MedGen (Select 146260) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24317911.	NM_003738.5(PTCH2):c.3584C>T (p.Ser1195Phe) GRCh37: Chr1:45288115 GRCh38: Chr1:44822443	PTCH2	S1195F	Breast carcinoma	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 24301592.	NM_000546.6(TP53):c.398T>A (p.Met133Lys) GRCh37: Chr17:7578532 GRCh38: Chr17:7675214	TP53	M133K, M1K, M94K	Breast carcinoma	Likely pathogenic	no assertion criteria provided
Select item 16835123.	NM_000535.7(PMS2):c.834T>A (p.His278Gln) GRCh37: Chr7:6035234 GRCh38: Chr7:5995603	PMS2	H143Q, H172Q, H175Q, H278Q, H87Q	Breast carcinoma	Uncertain significance (Jul 6, 2021)	criteria provided, single submitter
Select item 14531854.	NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter) GRCh37: Chr22:29121333 GRCh38: Chr22:28725345	CHEK2	W114, W157	Hereditary cancer-predisposing syndrome, Familial cancer of breast, Li-Fraumeni syndrome 2, Breast carcinoma	Pathogenic/Likely pathogenic (Jun 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 14361655.	NM_003738.5(PTCH2):c.1081C>T (p.Gln361Ter) GRCh37: Chr1:45295288 GRCh38: Chr1:44829616	PTCH2	Q361*	not specified, Gorlin syndrome, Breast carcinoma	Uncertain significance (Jun 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13200316.	NM_001122955.3(BSCL2):c.-291G>A GRCh37: Chr11:62474958 GRCh38: Chr11:62707486	BSCL2, GNG3, HNRNPUL2-BSCL2		Breast carcinoma, Reduced delayed hypersensitivity, Symphalangism affecting the proximal phalanx of the 4th finger	Pathogenic	no assertion criteria provided
Select item 13200307.	NM_005502.4(ABCA1):c.2014C>T (p.Arg672Trp) GRCh37: Chr9:107591298 GRCh38: Chr9:104829017	ABCA1	R672W	not provided	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 12643258.	NM_004360.5(CDH1):c.451del (p.Arg151fs) GRCh37: Chr16:68842389 GRCh38: Chr16:68808486	CDH1	R151fs	Breast carcinoma	Likely pathogenic	no assertion criteria provided
Select item 12604829.	NM_005591.4(MRE11):c.1100_1131del (p.Val367fs) GRCh37: Chr11:94197373-94197404 GRCh38: Chr11:94464207-94464238	MRE11	V367fs	Breast carcinoma	Likely pathogenic	no assertion criteria provided
Select item 125605010.	NM_005431.2(XRCC2):c.347_350del (p.Phe116fs) GRCh37: Chr7:152346220-152346223 GRCh38: Chr7:152649135-152649138	XRCC2	F116fs	Breast carcinoma	Likely pathogenic	no assertion criteria provided
Select item 125604911.	NM_007194.4(CHEK2):c.660_661del (p.Ile221fs) GRCh37: Chr22:29115405-29115406 GRCh38: Chr22:28719417-28719418	CHEK2	I221fs, I264fs	Breast carcinoma	Likely pathogenic	no assertion criteria provided
Select item 124422612.	NM_000051.4(ATM):c.6840_6844del (p.Tyr2281fs) GRCh37: Chr11:108196814-108196818 GRCh38: Chr11:108326087-108326091	ATM, C11orf65	Y2281fs	Breast carcinoma	Likely pathogenic (Sep 11, 2021)	no assertion criteria provided
Select item 124422513.	NM_000051.4(ATM):c.6527del (p.Leu2176fs) GRCh37: Chr11:108192101 GRCh38: Chr11:108321374	ATM, C11orf65	L2176fs	Breast carcinoma	Pathogenic (Sep 11, 2021)	no assertion criteria provided
Select item 124422314.	NM_007194.4(CHEK2):c.701_720del (p.Val234fs) GRCh37: Chr22:29107969-29107988 GRCh38: Chr22:28711981-28712000	CHEK2	V13fs, V167fs, V234fs, V277fs	Breast carcinoma	Likely pathogenic (Sep 10, 2021)	no assertion criteria provided
Select item 124422215.	NM_007294.4(BRCA1):c.1061del (p.Asn354fs) GRCh37: Chr17:41246487 GRCh38: Chr17:43094470	BRCA1	N307fs, N354fs, N226fs, N287fs, N313fs, N327fs, N186fs, N243fs, N265fs, N351fs, N353fs, N227fs, N266fs, N283fs, N286fs, N306fs, N312fs, N242fs, N284fs, N328fs, N58fs	Breast carcinoma	Likely pathogenic (Sep 12, 2021)	no assertion criteria provided
Select item 124421916.	NM_032043.3(BRIP1):c.1201del (p.Cys401fs) GRCh37: Chr17:59876600 GRCh38: Chr17:61799239	BRIP1	C401fs	Breast carcinoma	Likely pathogenic (Sep 11, 2021)	no assertion criteria provided
Select item 122454917.	NM_032043.3(BRIP1):c.918+2_918+3del GRCh37: Chr17:59885825-59885826 GRCh38: Chr17:61808464-61808465	BRIP1		Breast carcinoma	Likely pathogenic (Sep 4, 2021)	no assertion criteria provided
Select item 121012718.	NM_000059.4(BRCA2):c.3451_3454del (p.Thr1150_Ile1151insTer) GRCh37: Chr13:32911941-32911944 GRCh38: Chr13:32337804-32337807	BRCA2		Breast carcinoma	Likely pathogenic (Aug 23, 2021)	no assertion criteria provided
Select item 121012419.	NM_000051.4(ATM):c.2839-3_2841del GRCh37: Chr11:108141787-108141792 GRCh38: Chr11:108271060-108271065	ATM		Breast carcinoma	Likely pathogenic (Aug 23, 2021)	no assertion criteria provided
Select item 121012320.	NM_007294.4(BRCA1):c.2756del (p.Pro919fs) GRCh37: Chr17:41244792 GRCh38: Chr17:43092775	BRCA1	P872fs, P919fs, P623fs, P852fs, P892fs, P918fs, P751fs, P791fs, P792fs, P808fs, P830fs, P831fs, P848fs, P851fs, P878fs, P893fs, P807fs, P849fs, P871fs, P877fs, P916fs	Breast carcinoma	Likely pathogenic (Aug 23, 2021)	no assertion criteria provided
Select item 121012221.	NM_007294.4(BRCA1):c.1119_1120insCTGA (p.Thr374fs) GRCh37: Chr17:41246428-41246429 GRCh38: Chr17:43094411-43094412	BRCA1	T327fs, T374fs, T206fs, T326fs, T332fs, T286fs, T371fs, T373fs, T247fs, T303fs, T304fs, T78fs, T246fs, T262fs, T263fs, T285fs, T306fs, T307fs, T333fs, T347fs, T348fs	Breast-ovarian cancer, familial, susceptibility to, 1	Likely pathogenic (Apr 22, 2022)	criteria provided, single submitter
Select item 120985022.	NM_058216.3(RAD51C):c.907G>T (p.Glu303Ter) GRCh37: Chr17:56801403 GRCh38: Chr17:58724042	RAD51C	E303*	Fanconi anemia complementation group O	Pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 120984923.	NM_000051.4(ATM):c.6951_6952del (p.Lys2318fs) GRCh37: Chr11:108196927-108196928 GRCh38: Chr11:108326200-108326201	ATM, C11orf65	K2318fs	Stomach cancer, Breast carcinoma	Pathogenic/Likely pathogenic (Aug 21, 2021)	no assertion criteria provided
Select item 120984824.	NM_000535.7(PMS2):c.683del (p.Gly228fs) GRCh37: Chr7:6038761 GRCh38: Chr7:5999130	PMS2	G122fs, G125fs, G228fs, G93fs	Breast carcinoma	Likely pathogenic (Aug 21, 2021)	no assertion criteria provided
Select item 119588825.	NM_000059.4(BRCA2):c.1013del (p.Ala338fs) GRCh37: Chr13:32906628 GRCh38: Chr13:32332491	BRCA2	A338fs	Breast carcinoma	Pathogenic (Aug 12, 2021)	no assertion criteria provided
Select item 119587226.	NM_000059.4(BRCA2):c.1507A>T (p.Lys503Ter) GRCh37: Chr13:32907122 GRCh38: Chr13:32332985	BRCA2	K503*	Breast carcinoma	Pathogenic (Aug 10, 2021)	no assertion criteria provided
Select item 119587127.	NM_000314.8(PTEN):c.204C>A (p.Tyr68Ter) GRCh37: Chr10:89685309 GRCh38: Chr10:87925552	PTEN	Y241, Y68	Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome	Pathogenic (Dec 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119587028.	NM_000535.7(PMS2):c.23+1G>A GRCh37: Chr7:6048627 GRCh38: Chr7:6008996	PMS2		Hereditary nonpolyposis colorectal neoplasms	Likely pathogenic (Apr 15, 2022)	criteria provided, single submitter
Select item 119253229.	NM_024675.4(PALB2):c.1389dup (p.Arg464Ter) GRCh37: Chr16:23646477-23646478 GRCh38: Chr16:23635156-23635157	PALB2	R464*	Breast carcinoma	Likely pathogenic	no assertion criteria provided
Select item 119252730.	NM_000059.4(BRCA2):c.8995_8996del (p.Leu2999fs) GRCh37: Chr13:32953925-32953926 GRCh38: Chr13:32379788-32379789	BRCA2	L2999fs	Breast carcinoma	Likely pathogenic (Aug 8, 2021)	no assertion criteria provided
Select item 119252431.	NM_007294.4(BRCA1):c.473_547+288del GRCh37: Chr17:41251504-41251866 GRCh38: Chr17:43099487-43099849	BRCA1		Breast carcinoma	Likely pathogenic (Aug 8, 2021)	no assertion criteria provided
Select item 119252332.	NM_024675.4(PALB2):c.3070del (p.Glu1024fs) GRCh37: Chr16:23632726 GRCh38: Chr16:23621405	PALB2	E1024fs	Breast carcinoma	Likely pathogenic (Aug 7, 2021)	no assertion criteria provided
Select item 119251333.	NM_000051.4(ATM):c.7424T>G (p.Leu2475Ter) GRCh37: Chr11:108201057 GRCh38: Chr11:108330330	ATM, C11orf65	L2475*	Breast carcinoma	Pathogenic (Aug 9, 2021)	no assertion criteria provided
Select item 119250134.	NM_032043.3(BRIP1):c.507+1G>T GRCh37: Chr17:59926489 GRCh38: Chr17:61849128	BRIP1		Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome	Likely pathogenic (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118426635.	NM_000051.4(ATM):c.8582T>C (p.Ile2861Thr) GRCh37: Chr11:108216633 GRCh38: Chr11:108345906	ATM, C11orf65	I2861T	Ataxia-telangiectasia syndrome	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 118044836.	NM_000059.4(BRCA2):c.643del (p.Glu215fs) GRCh37: Chr13:32903591 GRCh38: Chr13:32329454	BRCA2	E215fs	Hereditary breast ovarian cancer syndrome	Pathogenic (May 16, 2022)	criteria provided, single submitter
Select item 117752837.	NM_000059.4(BRCA2):c.7632_7633del (p.Val2545fs) GRCh37: Chr13:32931892-32931893 GRCh38: Chr13:32357755-32357756	BRCA2	V2545fs	Breast carcinoma	Pathogenic	no assertion criteria provided
Select item 103958438.	NM_020975.6(RET):c.50T>C (p.Leu17Pro) GRCh37: Chr10:43572756 GRCh38: Chr10:43077308	RET	L17P	Multiple endocrine neoplasia, type 2, Breast carcinoma, Family history of cancer	Uncertain significance (Jan 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98305639.	NM_000251.3(MSH2):c.942+14_942+29del GRCh37: Chr2:47641560-47641575 GRCh38: Chr2:47414421-47414436	MSH2		Breast carcinoma, Hereditary cancer-predisposing syndrome	Benign/Likely benign (Nov 18, 2020)	criteria provided, multiple submitters, no conflicts
Select item 98297740.	NM_000251.3(MSH2):c.1661+3T>G GRCh37: Chr2:47693950 GRCh38: Chr2:47466811	MSH2		Hereditary nonpolyposis colorectal neoplasms, Breast carcinoma	Conflicting interpretations of pathogenicity (Feb 21, 2022)	criteria provided, conflicting interpretations
Select item 98261441.	NM_000264.5(PTCH1):c.2987C>G (p.Thr996Ser) GRCh37: Chr9:98220476 GRCh38: Chr9:95458194	PTCH1	T845S, T930S, T944S, T995S, T996S	Breast carcinoma	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 93613442.	NM_000051.4(ATM):c.5755C>T (p.Gln1919Ter) GRCh37: Chr11:108178704 GRCh38: Chr11:108307977	ATM	Q1919*	Ataxia-telangiectasia syndrome	Pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 92727243.	NM_001048174.2(MUTYH):c.378+1G>T GRCh37: Chr1:45798768 GRCh38: Chr1:45333096	MUTYH		Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2	Likely pathogenic (Dec 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91848744.	NM_000059.4(BRCA2):c.1364C>G (p.Ser455Ter) GRCh37: Chr13:32906979 GRCh38: Chr13:32332842	BRCA2	S455*	not provided, Hereditary cancer-predisposing syndrome	Pathogenic (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 85010245.	NM_000249.4(MLH1):c.393del (p.Asp132fs) GRCh37: Chr3:37048494 GRCh38: Chr3:37007003	MLH1	D99fs, D132fs, D34fs	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome	Pathogenic (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84703546.	NM_000051.4(ATM):c.4019T>A (p.Leu1340Ter) GRCh37: Chr11:108158352 GRCh38: Chr11:108287625	ATM	L1340*	Ataxia-telangiectasia syndrome	Pathogenic (Nov 18, 2019)	criteria provided, single submitter
Select item 83725047.	NM_007294.4(BRCA1):c.2802del (p.Asp936fs) GRCh37: Chr17:41244746 GRCh38: Chr17:43092729	BRCA1	D936fs, D889fs, D768fs, D847fs, D888fs, D895fs, D824fs, D825fs, D865fs, D868fs, D869fs, D909fs, D910fs, D640fs, D808fs, D809fs, D848fs, D894fs, D935fs, D866fs, D933fs	Hereditary breast ovarian cancer syndrome	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 82437648.	NM_000038.6(APC):c.391A>G (p.Thr131Ala) GRCh37: Chr5:112103056 GRCh38: Chr5:112767359	APC	T72A, T106A, T131A, T141A	Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 10, 2023)	criteria provided, single submitter
Select item 82218349.	NM_000264.5(PTCH1):c.110G>C (p.Gly37Ala) GRCh37: Chr9:98270534 GRCh38: Chr9:95508252	LOC130002133, PTCH1	G37A	Hereditary cancer-predisposing syndrome, Breast carcinoma, Gorlin syndrome	Conflicting interpretations of pathogenicity (Jul 30, 2022)	criteria provided, conflicting interpretations
Select item 80168350.	NM_000251.3(MSH2):c.942+22_942+29del GRCh37: Chr2:47641560-47641567 GRCh38: Chr2:47414421-47414428	MSH2		Lynch syndrome 1, Hereditary cancer-predisposing syndrome, Breast carcinoma	Benign/Likely benign (Mar 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 68953851.	NM_000059.4(BRCA2):c.6841+2T>G GRCh37: Chr13:32915335 GRCh38: Chr13:32341198	BRCA2		Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome	Likely pathogenic (Nov 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66560152.	NM_000465.4(BARD1):c.1903+2T>C GRCh37: Chr2:215609789 GRCh38: Chr2:214745065	BARD1		Familial cancer of breast	Likely pathogenic (May 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 64928053.	NM_002485.5(NBN):c.966C>G (p.Tyr322Ter) GRCh37: Chr8:90976666 GRCh38: Chr8:89964438	NBN	Y240, Y322	Microcephaly, normal intelligence and immunodeficiency	Pathogenic (Dec 8, 2021)	criteria provided, single submitter
Select item 64711654.	NM_000051.4(ATM):c.4383G>A (p.Trp1461Ter) GRCh37: Chr11:108160475 GRCh38: Chr11:108289748	ATM	W1461*	Ataxia-telangiectasia syndrome	Pathogenic (Aug 7, 2018)	criteria provided, single submitter
Select item 63701355.	NM_000059.4(BRCA2):c.6596_6597delinsA (p.Thr2199fs) GRCh37: Chr13:32915088-32915089 GRCh38: Chr13:32340951-32340952	BRCA2	T2199fs	Breast carcinoma	Pathogenic	no assertion criteria provided
Select item 63076556.	NM_000546.6(TP53):c.672+1G>T GRCh37: Chr17:7578176 GRCh38: Chr17:7674858	TP53		Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome	Pathogenic/Likely pathogenic (Jun 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58446157.	NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter) GRCh37: Chr11:108119704 GRCh38: Chr11:108248977	ATM	Y370*	Ataxia-telangiectasia syndrome, not provided	Pathogenic/Likely pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 56554458.	NM_000251.3(MSH2):c.482T>C (p.Val161Ala) GRCh37: Chr2:47637348 GRCh38: Chr2:47410209	MSH2	V161A, V95A	Hereditary cancer-predisposing syndrome, Ependymoma, Hereditary nonpolyposis colorectal neoplasms	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 56036659.	NM_007294.4(BRCA1):c.3122C>T (p.Ser1041Leu) GRCh37: Chr17:41244426 GRCh38: Chr17:43092409	BRCA1	S1041L, S994L, S1000L, S1038L, S974L, S1014L, S1015L, S913L, S930L, S970L, S973L, S1040L, S745L, S873L, S914L, S929L, S952L, S993L, S999L, S953L, S971L	Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (May 19, 2023)	criteria provided, conflicting interpretations
Select item 56036560.	NM_004360.5(CDH1):c.1489G>A (p.Glu497Lys) GRCh37: Chr16:68849586 GRCh38: Chr16:68815683	CDH1	E497K, E436K	Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 53074061.	NM_002485.5(NBN):c.1154_1155del (p.Lys385fs) GRCh37: Chr8:90967753-90967754 GRCh38: Chr8:89955525-89955526	NBN	K385fs, K303fs	Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency	Pathogenic (Apr 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52353462.	NM_024675.4(PALB2):c.1597A>G (p.Thr533Ala) GRCh37: Chr16:23646270 GRCh38: Chr16:23634949	PALB2	T533A	Hereditary cancer-predisposing syndrome, Breast carcinoma, Familial cancer of breast	Conflicting interpretations of pathogenicity (Jun 23, 2022)	criteria provided, conflicting interpretations
Select item 51852663.	NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr) GRCh37: Chr7:81626509 GRCh38: Chr7:81997193	CACNA2D1	D550Y, D569Y	Cardiac arrest, Paroxysmal atrial fibrillation, Breast carcinoma, Ventricular fibrillation, Brugada syndrome, Brugada syndrome 1, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Oct 26, 2023)	criteria provided, conflicting interpretations
Select item 49509364.	NM_007294.4(BRCA1):c.4818del (p.Val1607fs) GRCh37: Chr17:41223113 GRCh38: Chr17:43071096	BRCA1	V1560fs, V503fs, V1607fs, V1628fs	Familial cancer of breast	Pathogenic (Jan 1, 2020)	criteria provided, single submitter
Select item 49270265.	NM_000251.3(MSH2):c.1386+23T>G GRCh37: Chr2:47672819 GRCh38: Chr2:47445680	MSH2		Breast carcinoma, Hereditary nonpolyposis colorectal neoplasms, not provided, Lynch syndrome 1, Hereditary cancer-predisposing syndrome, not specified	Benign/Likely benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 48992966.	NM_000251.3(MSH2):c.2029A>G (p.Thr677Ala) GRCh37: Chr2:47703529 GRCh38: Chr2:47476390	MSH2	T677A, T611A	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Oct 18, 2022)	criteria provided, conflicting interpretations
Select item 48464167.	NM_005732.4(RAD50):c.2014C>T (p.Gln672Ter) GRCh37: Chr5:131931309 GRCh38: Chr5:132595617	RAD50	Q672*	Hereditary cancer-predisposing syndrome	Pathogenic (Dec 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 48106568.	NM_000051.4(ATM):c.2075G>T (p.Arg692Leu) GRCh37: Chr11:108124717 GRCh38: Chr11:108253990	ATM	R692L	Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome, not provided	Uncertain significance (Dec 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 47509469.	NM_015450.3(POT1):c.702+8_702+9delinsTG GRCh37: Chr7:124499002-124499003 GRCh38: Chr7:124858948-124858949	POT1		Breast carcinoma, Melanoma, cutaneous malignant, susceptibility to, 10	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46105670.	NM_032043.3(BRIP1):c.1031G>A (p.Gly344Glu) GRCh37: Chr17:59878723 GRCh38: Chr17:61801362	BRIP1	G344E	Hereditary cancer-predisposing syndrome, Breast carcinoma, Fanconi anemia complementation group J, Familial cancer of breast	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 46104471.	NM_032043.3(BRIP1):c.2947del (p.Ile983fs) GRCh37: Chr17:59761460 GRCh38: Chr17:61684099	BRIP1	I983fs	Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast, Fanconi anemia complementation group J	Pathogenic/Likely pathogenic (Jun 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 46090872.	NM_024675.4(PALB2):c.1704_1707del (p.Lys569fs) GRCh37: Chr16:23641768-23641771 GRCh38: Chr16:23630447-23630450	PALB2	K569fs	Hereditary cancer-predisposing syndrome, Familial cancer of breast	Pathogenic (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43383673.	NM_000059.4(BRCA2):c.9118-1G>C GRCh37: Chr13:32954143 GRCh38: Chr13:32380006	BRCA2		Malignant tumor of breast, Breast carcinoma	Pathogenic (Aug 21, 2021)	no assertion criteria provided
Select item 43059174.	NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter) GRCh37: Chr17:59821806 GRCh38: Chr17:61744445	BRIP1	Y748*	Breast neoplasm, not provided, Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast, Hereditary cancer-predisposing syndrome	Pathogenic (Jun 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 42830775.	NM_000179.3(MSH6):c.1572_1573del (p.Tyr524_Ser525delinsTer) GRCh37: Chr2:48026693-48026694 GRCh38: Chr2:47799554-47799555	MSH6		Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms, not provided	Pathogenic/Likely pathogenic (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41976776.	NM_000179.3(MSH6):c.3969T>G (p.Phe1323Leu) GRCh37: Chr2:48033758 GRCh38: Chr2:47806619	MSH6	F1323L, F1021L, F1193L	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, Breast carcinoma, not provided	Uncertain significance (Apr 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 41938677.	NM_001048174.2(MUTYH):c.469C>T (p.Arg157Trp) GRCh37: Chr1:45798458 GRCh38: Chr1:45332786	MUTYH	R185W, R65W, R158W, R168W, R172W, R157W, R182W, R42W	not provided, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 41887178.	NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs) GRCh37: Chr2:48033425-48033426 GRCh38: Chr2:47806286-47806287	MSH6	S1246fs, S1116fs, S944fs	Hereditary cancer-predisposing syndrome, not provided, Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colorectal neoplasms	Pathogenic/Likely pathogenic (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 41016679.	NM_024675.4(PALB2):c.932_933insC (p.Lys311fs) GRCh37: Chr16:23646934-23646935 GRCh38: Chr16:23635613-23635614	PALB2	K311fs	not provided, Familial cancer of breast, Hereditary cancer-predisposing syndrome	Pathogenic (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41013980.	NM_024675.4(PALB2):c.557dup (p.Asn186fs) GRCh37: Chr16:23647309-23647310 GRCh38: Chr16:23635988-23635989	PALB2	N186fs	Familial cancer of breast, Hereditary cancer-predisposing syndrome	Pathogenic (Mar 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37407281.	NM_001040108.2(MLH3):c.3034G>A (p.Ala1012Thr) GRCh37: Chr14:75513325 GRCh38: Chr14:75046622	MLH3	A1012T	Breast carcinoma	Uncertain significance (Dec 5, 2014)	criteria provided, single submitter
Select item 33642882.	NM_000251.3(MSH2):c.942+26_942+29del GRCh37: Chr2:47641560-47641563 GRCh38: Chr2:47414421-47414424	MSH2		not provided, Lynch syndrome, Breast carcinoma, Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome, not specified	Conflicting interpretations of pathogenicity (Aug 15, 2023)	criteria provided, conflicting interpretations
Select item 28075083.	NM_000059.4(BRCA2):c.5557dup (p.Cys1853fs) GRCh37: Chr13:32914046-32914047 GRCh38: Chr13:32339909-32339910	BRCA2	C1853fs	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Dec 15, 2017)	reviewed by expert panel
Select item 26770484.	NM_000059.4(BRCA2):c.8754+1G>T GRCh37: Chr13:32950929 GRCh38: Chr13:32376792	BRCA2		Hereditary cancer-predisposing syndrome, not provided, BRCA2-Related Disorders, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic/Likely pathogenic (May 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 26695085.	NM_000059.4(BRCA2):c.6478C>T (p.Gln2160Ter) GRCh37: Chr13:32914970 GRCh38: Chr13:32340833	BRCA2	Q2160*	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Oct 18, 2016)	reviewed by expert panel
Select item 26657986.	NM_007294.4(BRCA1):c.788dup (p.Gly263_Ser264insTer) GRCh37: Chr17:41246759-41246760 GRCh38: Chr17:43094742-43094743	BRCA1		Breast-ovarian cancer, familial, susceptibility to, 1	Pathogenic (Oct 18, 2016)	reviewed by expert panel
Select item 26643487.	NM_007294.4(BRCA1):c.4062_4066del (p.Asn1354fs) GRCh37: Chr17:41243482-41243486 GRCh38: Chr17:43091465-43091469	BRCA1, LOC126862571	N1354fs, N1307fs, N1243fs, N1266fs, N1327fs, N1353fs, N486fs, N1186fs, N1242fs, N1283fs, N1312fs, N1328fs, N1058fs, N1227fs, N1284fs, N1306fs, N1226fs, N1265fs, N1286fs, N1287fs, N1313fs, N1351fs	Breast-ovarian cancer, familial, susceptibility to, 1	Pathogenic (Oct 18, 2016)	reviewed by expert panel
Select item 26627688.	NM_007294.4(BRCA1):c.2536G>T (p.Glu846Ter) GRCh37: Chr17:41245012 GRCh38: Chr17:43092995	BRCA1	E846, E799, E678, E718, E719, E757, E778, E779, E798, E735, E775, E805, E845, E550, E819, E734, E758, E776, E804, E820, E843*	Breast-ovarian cancer, familial, susceptibility to, 1	Pathogenic (Oct 18, 2016)	reviewed by expert panel
Select item 26558589.	NM_000051.4(ATM):c.193C>T (p.Gln65Ter) GRCh37: Chr11:108099912 GRCh38: Chr11:108229185	ATM	Q65*	not provided, Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 24075890.	NM_007194.4(CHEK2):c.847-1G>A GRCh37: Chr22:29099555 GRCh38: Chr22:28703567	CHEK2		Hereditary cancer-predisposing syndrome, Familial cancer of breast	Likely pathogenic (Jun 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 23739191.	NM_000251.3(MSH2):c.2697G>T (p.Met899Ile) GRCh37: Chr2:47709980 GRCh38: Chr2:47482841	MSH2	M899I, M833I	Hereditary cancer-predisposing syndrome, Breast carcinoma, Hereditary nonpolyposis colorectal neoplasms	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 23692392.	NM_000059.4(BRCA2):c.8881G>A (p.Gly2961Ser) GRCh37: Chr13:32953580 GRCh38: Chr13:32379443	BRCA2	G2961S	Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Jan 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 23682993.	NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter) GRCh37: Chr13:32906804 GRCh38: Chr13:32332667	BRCA2	Q397*	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Sep 8, 2016)	reviewed by expert panel
Select item 23144994.	NM_005591.4(MRE11):c.1447C>T (p.Arg483Ter) GRCh37: Chr11:94192627 GRCh38: Chr11:94459461	MRE11	R483*	Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder	Pathogenic (May 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 23084395.	NM_000051.4(ATM):c.2497G>T (p.Gly833Ter) GRCh37: Chr11:108137928 GRCh38: Chr11:108267201	ATM	G833*	Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome	Pathogenic (Jan 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 22979496.	NM_000051.4(ATM):c.875C>T (p.Pro292Leu) GRCh37: Chr11:108115727 GRCh38: Chr11:108245000	ATM	P292L	Hereditary cancer-predisposing syndrome, not provided, Ataxia-telangiectasia syndrome	Pathogenic/Likely pathogenic (Feb 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 22967797.	NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter) GRCh37: Chr2:215645382 GRCh38: Chr2:214780658	BARD1	R406, R387	Hereditary breast ovarian cancer syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome, not provided	Pathogenic/Likely pathogenic (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21599798.	NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) GRCh37: Chr17:7577114 GRCh38: Chr17:7673796	TP53	C143Y, C236Y, C275Y, C116Y	Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1, not provided	Pathogenic/Likely pathogenic (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21547199.	NM_000465.3(BARD1):c.1518_1519invTG (p.Val507Met) GRCh37: Chr2:215632255-215632256 GRCh38: Chr2:214767531-214767532	BARD1	V488M, V507M	Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Familial cancer of breast, not specified	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 187416100.	NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) GRCh37: Chr17:59761412-59761415 GRCh38: Chr17:61684051-61684054	BRIP1	K998fs	not provided, Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J, Neoplasm of ovary, Fanconi anemia complementation group J, Familial cancer of breast, Hereditary breast ovarian cancer syndrome	Conflicting interpretations of pathogenicity (May 8, 2023)	criteria provided, conflicting interpretations

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