BRCA2[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 4389741.	NM_000059.4(BRCA2):c.-39-2A>G GRCh37: Chr13:32890557 GRCh38: Chr13:32316420	BRCA2		not provided, Breast-ovarian cancer, familial, susceptibility to, 2, Hereditary breast ovarian cancer syndrome	Pathogenic/Likely pathogenic (Aug 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4210142.	NM_000059.4(BRCA2):c.-39-1_-39del GRCh37: Chr13:32890557-32890558 GRCh38: Chr13:32316420-32316421	BRCA2		Hereditary breast ovarian cancer syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome, not provided	Likely pathogenic (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10679803.	NM_000059.4(BRCA2):c.-39-1G>C GRCh37: Chr13:32890558 GRCh38: Chr13:32316421	BRCA2		Hereditary breast ovarian cancer syndrome	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 4037044.	NM_000059.4(BRCA2):c.-39-1G>A GRCh37: Chr13:32890558 GRCh38: Chr13:32316421	BRCA2		Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic	no assertion criteria provided
Select item 4174705.	NC_000013.11:g.(?_32316422)_(32355288_?)del GRCh37: Chr13:32890559-32929425 GRCh38: Chr13:32316422-32355288	BRCA2		Hereditary breast ovarian cancer syndrome	Pathogenic (Aug 15, 2016)	criteria provided, single submitter
Select item 4174696.	NC_000013.11:g.(?_32316422)_(32319325_?)del GRCh37: Chr13:32890559-32893462 GRCh38: Chr13:32316422-32319325	BRCA2		Hereditary breast ovarian cancer syndrome	Pathogenic (Oct 11, 2016)	criteria provided, single submitter
Select item 2540397.	NM_000059.3(BRCA2):c.-39-?_67+?del GRCh37: Chr13:32890559-32890664 GRCh38: Chr13:32316422-32316527	BRCA2		Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Jan 6, 2017)	criteria provided, multiple submitters, no conflicts
Select item 4306038.	NM_000059.4(BRCA2):c.-5_11del (p.Met1fs) GRCh37: Chr13:32890591-32890606 GRCh38: Chr13:32316454-32316469	BRCA2	M1fs	Breast neoplasm	Pathogenic	criteria provided, single submitter
Select item 5835509.	NC_000013.11:g.(?_32316455)_(32326288_?)del GRCh37: Chr13:32890592-32900425 GRCh38: Chr13:32316455-32326288	BRCA2		Hereditary breast ovarian cancer syndrome	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 53154810.	NC_000013.11:g.(?_32316455)_(32357935_?)del GRCh37: Chr13:32890592-32932072 GRCh38: Chr13:32316455-32357935	BRCA2		Hereditary breast ovarian cancer syndrome	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 46215811.	NC_000013.11:g.(?_32316455)_(32325190_?)del GRCh37: Chr13:32890592-32899327 GRCh38: Chr13:32316455-32325190	BRCA2		Hereditary breast ovarian cancer syndrome	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 13272812.	NM_000059.3(BRCA2):c.(?_-1)_67+?del GRCh37: Chr13:32890470 GRCh38: Chr13:32316460-32316527	BRCA2		Hereditary breast ovarian cancer syndrome	Pathogenic (Sep 2, 2015)	criteria provided, single submitter
Select item 21602613.	NM_000059.4(BRCA2):c.1A>G (p.Met1Val) GRCh37: Chr13:32890598 GRCh38: Chr13:32316461	BRCA2	M1V	Hereditary breast ovarian cancer syndrome	Pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 43128214.	NM_000059.4(BRCA2):c.2T>A (p.Met1Lys) GRCh37: Chr13:32890599 GRCh38: Chr13:32316462	BRCA2	M1K	Hereditary breast ovarian cancer syndrome, not provided	Pathogenic/Likely pathogenic (Jul 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5138515.	NM_000059.4(BRCA2):c.2T>G (p.Met1Arg) GRCh37: Chr13:32890599 GRCh38: Chr13:32316462	BRCA2	M1R	Hereditary breast ovarian cancer syndrome, not provided, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Feb 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 5138416.	NM_000059.4(BRCA2):c.2T>C (p.Met1Thr) GRCh37: Chr13:32890599 GRCh38: Chr13:32316462	BRCA2	M1T	Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic/Likely pathogenic (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5157917.	NM_000059.4(BRCA2):c.3G>A (p.Met1Ile) GRCh37: Chr13:32890600 GRCh38: Chr13:32316463	BRCA2	M1I	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Jun 18, 2019)	reviewed by expert panel
Select item 3787218.	NM_000059.4(BRCA2):c.3del (p.Met1fs) GRCh37: Chr13:32890600 GRCh38: Chr13:32316463	BRCA2		Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial, susceptibility to, 2, Familial cancer of breast	Pathogenic (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3787119.	NM_000059.4(BRCA2):c.3G>T (p.Met1Ile) GRCh37: Chr13:32890600 GRCh38: Chr13:32316463	BRCA2	M1I	Hereditary breast ovarian cancer syndrome	Pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 5198520.	NM_000059.4(BRCA2):c.5del (p.Pro2fs) GRCh37: Chr13:32890601 GRCh38: Chr13:32316464	BRCA2		Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Oct 18, 2016)	reviewed by expert panel
Select item 48299821.	NM_000059.4(BRCA2):c.7dup (p.Ile3fs) GRCh37: Chr13:32890603-32890604 GRCh38: Chr13:32316466-32316467	BRCA2	I3fs	Hereditary cancer-predisposing syndrome	Pathogenic (Jan 18, 2016)	criteria provided, single submitter
Select item 5106322.	NM_000059.4(BRCA2):c.10G>T (p.Gly4Ter) GRCh37: Chr13:32890607 GRCh38: Chr13:32316470	BRCA2	G4*	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Oct 18, 2016)	reviewed by expert panel
Select item 42134223.	NM_000059.4(BRCA2):c.15del (p.Glu7fs) GRCh37: Chr13:32890611 GRCh38: Chr13:32316474	BRCA2	E7fs	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Dec 15, 2017)	reviewed by expert panel
Select item 169681724.	NM_000059.4(BRCA2):c.18del (p.Glu7fs) GRCh37: Chr13:32890613 GRCh38: Chr13:32316476	BRCA2	E7fs	Hereditary cancer-predisposing syndrome	Pathogenic	no assertion criteria provided
Select item 5119825.	NM_000059.4(BRCA2):c.17_18del (p.Lys6fs) GRCh37: Chr13:32890613-32890614 GRCh38: Chr13:32316476-32316477	BRCA2		Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Sep 8, 2016)	reviewed by expert panel
Select item 46225226.	NM_000059.4(BRCA2):c.20_23del (p.Glu7fs) GRCh37: Chr13:32890615-32890618 GRCh38: Chr13:32316478-32316481	BRCA2	E7fs	Hereditary breast ovarian cancer syndrome	Pathogenic (Jan 29, 2021)	criteria provided, single submitter
Select item 5126727.	NM_000059.4(BRCA2):c.22_23del (p.Arg8fs) GRCh37: Chr13:32890615-32890616 GRCh38: Chr13:32316478-32316479	BRCA2	R8fs	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Sep 8, 2016)	reviewed by expert panel
Select item 106884228.	NM_000059.4(BRCA2):c.20del (p.Glu7fs) GRCh37: Chr13:32890617 GRCh38: Chr13:32316480	BRCA2	E7fs	Hereditary breast ovarian cancer syndrome	Pathogenic (Feb 28, 2021)	criteria provided, single submitter
Select item 5133029.	NM_000059.4(BRCA2):c.26del (p.Pro9fs) GRCh37: Chr13:32890623 GRCh38: Chr13:32316485	BRCA2	P9fs	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Apr 22, 2016)	reviewed by expert panel
Select item 145229730.	NM_000059.4(BRCA2):c.45_46insTTTTTTTTTTTTTTTNNNNNNNNNNTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATTTTTTGAAATTTTT (p.Lys16delinsPhePhePhePhePheXaaXaaXaaXaaThrLeuLeuAlaArgMetValSerIleSerTer) GRCh37: Chr13:32890625-32890626 GRCh38: Chr13:32316488-32316489	BRCA2		Hereditary breast ovarian cancer syndrome	Pathogenic (Aug 5, 2022)	criteria provided, single submitter
Select item 5150931.	NM_000059.4(BRCA2):c.36dup (p.Glu13Ter) GRCh37: Chr13:32890627-32890628 GRCh38: Chr13:32316490-32316491	BRCA2	E13*	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Sep 8, 2016)	reviewed by expert panel
Select item 169681832.	NM_000059.4(BRCA2):c.35_36del (p.Phe11_Phe12insTer) GRCh37: Chr13:32890628-32890629 GRCh38: Chr13:32316491-32316492	BRCA2		Hereditary cancer-predisposing syndrome	Pathogenic	no assertion criteria provided
Select item 5150833.	NM_000059.4(BRCA2):c.36del (p.Phe12fs) GRCh37: Chr13:32890628 GRCh38: Chr13:32316491	BRCA2	F12fs	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Sep 8, 2016)	reviewed by expert panel
Select item 48156934.	NM_000059.4(BRCA2):c.32_33delinsA (p.Phe11fs) GRCh37: Chr13:32890629-32890630 GRCh38: Chr13:32316492-32316493	BRCA2	F11fs	Hereditary cancer-predisposing syndrome	Pathogenic (Aug 30, 2016)	criteria provided, single submitter
Select item 5152835.	NM_000059.4(BRCA2):c.37_44del (p.Phe12_Glu13insTer) GRCh37: Chr13:32890630-32890637 GRCh38: Chr13:32316493-32316500	BRCA2		Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Oct 18, 2016)	reviewed by expert panel
Select item 12598036.	NM_000059.4(BRCA2):c.37_38insT (p.Glu13fs) GRCh37: Chr13:32890634-32890635 GRCh38: Chr13:32316497-32316498	BRCA2	E13fs	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Sep 8, 2016)	reviewed by expert panel
Select item 5152737.	NM_000059.4(BRCA2):c.37G>T (p.Glu13Ter) GRCh37: Chr13:32890634 GRCh38: Chr13:32316497	BRCA2	E13*	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Sep 8, 2016)	reviewed by expert panel
Select item 173785238.	NM_000059.4(BRCA2):c.41_63del (p.Ile14fs) GRCh37: Chr13:32890635-32890657 GRCh38: Chr13:32316498-32316520	BRCA2	I14fs	Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome	Pathogenic (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 122311939.	NM_000059.4(BRCA2):c.45dup (p.Lys16Ter) GRCh37: Chr13:32890637-32890638 GRCh38: Chr13:32316500-32316501	BRCA2	K16*	Hereditary breast ovarian cancer syndrome, not provided	Pathogenic (Nov 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 107200740.	NM_000059.4(BRCA2):c.58_59insGCTTGCAGTGAGCCGAGATCGCGCCACTGCACGCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCTAAAAANNNNNNNNNNGTTGATTTTTTTTTTTTGCCTGAAACCCCCCACTCAACCACTCCTCGTGGTCCATAACCTGAAAACATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACACGCTGCA (p.Asn20delinsSerLeuGlnTer) GRCh37: Chr13:32890642-32890643 GRCh38: Chr13:32316505-32316506	BRCA2		Hereditary breast ovarian cancer syndrome	Pathogenic (Jan 24, 2020)	criteria provided, single submitter
Select item 26683641.	NM_000059.4(BRCA2):c.48dup (p.Thr17fs) GRCh37: Chr13:32890644-32890645 GRCh38: Chr13:32316507-32316508	BRCA2	T17fs	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Oct 18, 2016)	reviewed by expert panel
Select item 209959142.	NM_000059.4(BRCA2):c.48_50delinsATTTCAAGAT (p.Thr17fs) GRCh37: Chr13:32890645-32890647 GRCh38: Chr13:32316508-32316510	BRCA2	T17fs	Hereditary breast ovarian cancer syndrome	Pathogenic (Nov 15, 2021)	criteria provided, single submitter
Select item 26683443.	NM_000059.3(BRCA2):c.48_50delinsATCGATCGAT (p.Thr17fs) GRCh37: Chr13:32890645-32890647 GRCh38: Chr13:32316508-32316510	BRCA2		Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Oct 18, 2016)	reviewed by expert panel
Select item 9182844.	NM_000059.3(BRCA2):c.48_50delGACins10 (p.?) GRCh37: Chr13:32890645-32890647 GRCh38: Chr13:32316508-32316510	BRCA2		Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Oct 22, 2012)	no assertion criteria provided
Select item 26685745.	NM_000059.4(BRCA2):c.52_61del (p.Arg18fs) GRCh37: Chr13:32890646-32890655 GRCh38: Chr13:32316509-32316518	BRCA2		Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Oct 18, 2016)	reviewed by expert panel
Select item 5181446.	NM_000059.4(BRCA2):c.51_52del (p.Arg18fs) GRCh37: Chr13:32890646-32890647 GRCh38: Chr13:32316509-32316510	BRCA2	R18fs	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Apr 22, 2016)	reviewed by expert panel
Select item 5181547.	NM_000059.4(BRCA2):c.51dup (p.Arg18fs) GRCh37: Chr13:32890647-32890648 GRCh38: Chr13:32316510-32316511	BRCA2	R18fs	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Oct 18, 2016)	reviewed by expert panel
Select item 82598148.	NM_000059.4(BRCA2):c.58_59insGCTTGCAGTGAGCCGAGATCGCGCC (p.Asn20delinsSerLeuGlnTer) GRCh37: Chr13:32890655-32890656 GRCh38: Chr13:32316518-32316519	BRCA2		Hereditary cancer-predisposing syndrome	Pathogenic (Jan 5, 2018)	criteria provided, single submitter
Select item 5208149.	NM_000059.4(BRCA2):c.63del (p.Ala22fs) GRCh37: Chr13:32890658 GRCh38: Chr13:32316521	BRCA2		Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Sep 8, 2016)	reviewed by expert panel
Select item 26765650.	NM_000059.4(BRCA2):c.67+1del GRCh37: Chr13:32890664 GRCh38: Chr13:32316527	BRCA2		Breast-ovarian cancer, familial, susceptibility to, 2, Hereditary cancer-predisposing syndrome	Pathogenic (Sep 25, 2019)	criteria provided, multiple submitters, no conflicts
Select item 5218551.	NM_000059.4(BRCA2):c.67G>T (p.Asp23Tyr) GRCh37: Chr13:32890664 GRCh38: Chr13:32316527	BRCA2	D23Y	not provided, Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic/Likely pathogenic (Jun 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 44044552.	NC_000013.10:g.(32890665_32893213)_(32893463_32899212)del GRCh37: Chr13:32890665-32899212 GRCh38: Chr13:32316528-32325075	BRCA2		Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Jul 1, 2015)	criteria provided, single submitter
Select item 22445053.	NM_000059.4(BRCA2):c.67+1G>C GRCh37: Chr13:32890665 GRCh38: Chr13:32316528	BRCA2		not provided, Hereditary cancer-predisposing syndrome, Breast neoplasm, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic/Likely pathogenic (Mar 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5216154.	NM_000059.4(BRCA2):c.67+1G>T GRCh37: Chr13:32890665 GRCh38: Chr13:32316528	BRCA2		Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Jun 18, 2019)	reviewed by expert panel
Select item 5216055.	NM_000059.4(BRCA2):c.67+1G>A GRCh37: Chr13:32890665 GRCh38: Chr13:32316528	BRCA2		Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, not provided, Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43128556.	NM_000059.4(BRCA2):c.67+2T>G GRCh37: Chr13:32890666 GRCh38: Chr13:32316529	BRCA2		Hereditary cancer-predisposing syndrome, not provided, Hereditary breast ovarian cancer syndrome	Pathogenic/Likely pathogenic (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21597957.	NM_000059.4(BRCA2):c.67+2del GRCh37: Chr13:32890666 GRCh38: Chr13:32316529	BRCA2		Hereditary breast ovarian cancer syndrome	Likely pathogenic (Jan 21, 2015)	criteria provided, single submitter
Select item 5216358.	NM_000059.4(BRCA2):c.67+2T>C GRCh37: Chr13:32890666 GRCh38: Chr13:32316529	BRCA2		not provided, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Apr 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5216259.	NM_000059.4(BRCA2):c.67+2T>A GRCh37: Chr13:32890666 GRCh38: Chr13:32316529	BRCA2		Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Feb 24, 2003)	no assertion criteria provided
Select item 82656360.	NM_000059.4(BRCA2):c.67+3A>G GRCh37: Chr13:32890667 GRCh38: Chr13:32316530	BRCA2		Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome	Pathogenic/Likely pathogenic (Nov 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 26765561.	NM_000059.4(BRCA2):c.67+1154_316+2261del GRCh37: Chr13:32891815-32895720 GRCh38: Chr13:32317678-32321583	BRCA2		Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Oct 2, 2015)	criteria provided, single submitter
Select item 63587462.	NM_000059.4(BRCA2):c.68-352_317-1637del GRCh37: Chr13:32892842-32897556 GRCh38: Chr13:32318705-32323419	BRCA2		Malignant tumor of breast, Ovarian cancer	Pathogenic (Apr 9, 2019)	criteria provided, single submitter
Select item 58350563.	NC_000013.11:g.(?_32319057)_(32319345_?)del GRCh37: Chr13:32893194-32893482 GRCh38: Chr13:32319057-32319345	BRCA2		Hereditary breast ovarian cancer syndrome	Pathogenic (Oct 14, 2022)	criteria provided, single submitter
Select item 43384564.	NM_000059.3(BRCA2):c.68_316del249 (p.Asp23_Leu105del) GRCh37: Chr13:32893211-32893459 GRCh38: Chr13:32319074-32319322	BRCA2		not provided, Hereditary breast ovarian cancer syndrome	Pathogenic/Likely pathogenic (Feb 4, 2018)	criteria provided, multiple submitters, no conflicts
Select item 104890765.	NM_000059.4(BRCA2):c.68-2_316+1del GRCh37: Chr13:32893212-32893463 GRCh38: Chr13:32319075-32319326	BRCA2		Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 62753566.	NM_000059.4(BRCA2):c.68-1G>C GRCh37: Chr13:32893213 GRCh38: Chr13:32319076	BRCA2		Genetic non-acquired premature ovarian failure	Pathogenic (Oct 1, 2018)	criteria provided, single submitter
Select item 180294967.	NM_000059.4(BRCA2):c.69_71dup (p.Asp23_Leu24insPhe) GRCh37: Chr13:32893214-32893215 GRCh38: Chr13:32319077-32319078	BRCA2		not provided	Pathogenic (Oct 4, 2022)	no assertion criteria provided
Select item 175765468.	NM_000059.4(BRCA2):c.71dup (p.Leu24fs) GRCh37: Chr13:32893214-32893215 GRCh38: Chr13:32319077-32319078	BRCA2	L24fs	Hereditary cancer-predisposing syndrome	Pathogenic (Sep 11, 2022)	criteria provided, single submitter
Select item 41747369.	NM_000059.3(BRCA2):c.68-?_316+?del GRCh37: Chr13:32893214-32893462 GRCh38: Chr13:32319077-32319325	BRCA2		Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Apr 1, 2018)	reviewed by expert panel
Select item 12599370.	NM_000059.4(BRCA2):c.71_96del (p.Asp23_Leu24insTer) GRCh37: Chr13:32893215-32893240 GRCh38: Chr13:32319078-32319103	BRCA2		Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Sep 8, 2016)	reviewed by expert panel
Select item 5228671.	NM_000059.4(BRCA2):c.71del (p.Asp23_Leu24insTer) GRCh37: Chr13:32893215 GRCh38: Chr13:32319078	BRCA2		Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Sep 8, 2016)	reviewed by expert panel
Select item 26699172.	NM_000059.4(BRCA2):c.71T>G (p.Leu24Ter) GRCh37: Chr13:32893217 GRCh38: Chr13:32319080	BRCA2	L24*	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Oct 18, 2016)	reviewed by expert panel
Select item 5228573.	NM_000059.4(BRCA2):c.71T>A (p.Leu24Ter) GRCh37: Chr13:32893217 GRCh38: Chr13:32319080	BRCA2	L24*	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Dec 15, 2017)	reviewed by expert panel
Select item 59874074.	NM_000059.4(BRCA2):c.72del (p.Gly25fs) GRCh37: Chr13:32893218 GRCh38: Chr13:32319081	BRCA2	G25fs	Hereditary breast ovarian cancer syndrome	Pathogenic (Jul 10, 2018)	no assertion criteria provided
Select item 180295175.	NM_000059.4(BRCA2):c.73_77del (p.Gly25fs) GRCh37: Chr13:32893219-32893223 GRCh38: Chr13:32319082-32319086	BRCA2	G25fs	not provided	Pathogenic (Oct 4, 2022)	no assertion criteria provided
Select item 26700876.	NM_000059.4(BRCA2):c.73G>T (p.Gly25Ter) GRCh37: Chr13:32893219 GRCh38: Chr13:32319082	BRCA2	G25*	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Oct 18, 2016)	reviewed by expert panel
Select item 94818677.	NM_000059.4(BRCA2):c.79dup (p.Ile27fs) GRCh37: Chr13:32893223-32893224 GRCh38: Chr13:32319086-32319087	BRCA2	I27fs	Hereditary breast ovarian cancer syndrome	Pathogenic (Jun 19, 2019)	criteria provided, single submitter
Select item 180295678.	NM_000059.4(BRCA2):c.82del (p.Ser28fs) GRCh37: Chr13:32893227 GRCh38: Chr13:32319090	BRCA2	S28fs	not provided	Pathogenic (Oct 4, 2022)	no assertion criteria provided
Select item 55999079.	NM_000059.4(BRCA2):c.82_147del (p.Leu29_Ser50del) GRCh37: Chr13:32893227-32893292 GRCh38: Chr13:32319090-32319155	BRCA2		Ovarian serous surface papillary adenocarcinoma	Likely pathogenic (Jun 14, 2017)	criteria provided, single submitter
Select item 25240780.	NM_000059.3(BRCA2):c.81_83delinsTAAGACT (p.Ser28fs) GRCh37: Chr13:32893227-32893229 GRCh38: Chr13:32319090-32319092	BRCA2		Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Dec 15, 2017)	reviewed by expert panel
Select item 180295881.	NM_000059.4(BRCA2):c.84T>A (p.Ser28Arg) GRCh37: Chr13:32893230 GRCh38: Chr13:32319093	BRCA2	S28R	not provided	Pathogenic (Oct 4, 2022)	no assertion criteria provided
Select item 180296382.	NM_000059.4(BRCA2):c.85C>T (p.Leu29Phe) GRCh37: Chr13:32893231 GRCh38: Chr13:32319094	BRCA2	L29F	not provided	Pathogenic (Oct 4, 2022)	no assertion criteria provided
Select item 5265983.	NM_000059.4(BRCA2):c.86_87del (p.Leu29fs) GRCh37: Chr13:32893232-32893233 GRCh38: Chr13:32319095-32319096	BRCA2	L29fs	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Sep 8, 2016)	reviewed by expert panel
Select item 98690784.	NM_000059.4(BRCA2):c.89_90insGT (p.Asn30fs) GRCh37: Chr13:32893235-32893236 GRCh38: Chr13:32319098-32319099	BRCA2	N30fs	not provided	Pathogenic (Oct 23, 2020)	criteria provided, single submitter
Select item 117460685.	NM_000059.4(BRCA2):c.93_97del (p.Trp31_Glu33delinsTer) GRCh37: Chr13:32893236-32893240 GRCh38: Chr13:32319099-32319103	BRCA2		Breast-ovarian cancer, familial, susceptibility to, 2	Likely pathogenic (Jan 1, 2021)	criteria provided, single submitter
Select item 56806786.	NM_000059.4(BRCA2):c.91del (p.Trp31fs) GRCh37: Chr13:32893236 GRCh38: Chr13:32319099	BRCA2	W31fs	Hereditary breast ovarian cancer syndrome	Pathogenic (May 13, 2021)	criteria provided, single submitter
Select item 5277587.	NM_000059.4(BRCA2):c.91T>C (p.Trp31Arg) GRCh37: Chr13:32893237 GRCh38: Chr13:32319100	BRCA2	W31R	Hereditary breast ovarian cancer syndrome	Likely pathogenic (Aug 13, 2021)	criteria provided, single submitter
Select item 209880288.	NM_000059.4(BRCA2):c.92G>C (p.Trp31Ser) GRCh37: Chr13:32893238 GRCh38: Chr13:32319101	BRCA2	W31S	Hereditary breast ovarian cancer syndrome, not provided	Likely pathogenic (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 176683089.	NM_000059.4(BRCA2):c.93del (p.Trp31fs) GRCh37: Chr13:32893238 GRCh38: Chr13:32319101	BRCA2	W31fs	Hereditary cancer-predisposing syndrome	Pathogenic (Feb 26, 2022)	criteria provided, single submitter
Select item 98690890.	NM_000059.4(BRCA2):c.92_93insAA (p.Trp31Ter) GRCh37: Chr13:32893238-32893239 GRCh38: Chr13:32319101-32319102	BRCA2	W31*	not provided	Pathogenic (Oct 23, 2020)	criteria provided, single submitter
Select item 5280891.	NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter) GRCh37: Chr13:32893238 GRCh38: Chr13:32319101	BRCA2	W31*	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Sep 8, 2016)	reviewed by expert panel
Select item 5282992.	NM_000059.4(BRCA2):c.93G>A (p.Trp31Ter) GRCh37: Chr13:32893239 GRCh38: Chr13:32319102	BRCA2	W31*	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Oct 18, 2016)	reviewed by expert panel
Select item 176788893.	NM_000059.4(BRCA2):c.96del (p.Phe32fs) GRCh37: Chr13:32893240 GRCh38: Chr13:32319103	BRCA2	F32fs	Hereditary cancer-predisposing syndrome	Pathogenic (Jun 23, 2021)	criteria provided, single submitter
Select item 5290094.	NM_000059.4(BRCA2):c.97G>T (p.Glu33Ter) GRCh37: Chr13:32893243 GRCh38: Chr13:32319106	BRCA2	E33*	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Oct 18, 2016)	reviewed by expert panel
Select item 5104195.	NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter) GRCh37: Chr13:32893246 GRCh38: Chr13:32319109	BRCA2	E34*	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Sep 8, 2016)	reviewed by expert panel
Select item 211290696.	NM_000059.4(BRCA2):c.101_102insT (p.Glu34fs) GRCh37: Chr13:32893247-32893248 GRCh38: Chr13:32319110-32319111	BRCA2	E34fs	Hereditary breast ovarian cancer syndrome	Pathogenic (Apr 6, 2022)	criteria provided, single submitter
Select item 26660297.	NM_000059.4(BRCA2):c.103dup (p.Leu35fs) GRCh37: Chr13:32893248-32893249 GRCh38: Chr13:32319111-32319112	BRCA2	L35fs	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Oct 18, 2016)	reviewed by expert panel
Select item 54843998.	NM_000059.4(BRCA2):c.106_109del (p.Ser36fs) GRCh37: Chr13:32893249-32893252 GRCh38: Chr13:32319112-32319115	BRCA2	S36fs	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Dec 15, 2017)	reviewed by expert panel
Select item 26660399.	NM_000059.4(BRCA2):c.104_110del (p.Leu35fs) GRCh37: Chr13:32893249-32893255 GRCh38: Chr13:32319112-32319118	BRCA2	L35fs	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Oct 18, 2016)	reviewed by expert panel
Select item 126005100.	NM_000059.4(BRCA2):c.106dup (p.Ser36fs) GRCh37: Chr13:32893249-32893250 GRCh38: Chr13:32319112-32319113	BRCA2	S36fs	Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (Sep 8, 2016)	reviewed by expert panel

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