Entrez Gene

Basic Information
Gene ID	580
Name	BARD1
Synonymous	BRCA1 associated RING domain 1;BARD1;BRCA1 associated RING domain 1
Definition	BRCA1-associated RING domain gene 1\|BRCA1-associated RING domain protein 1
Position	2q35
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.709C>G; p.Q237E; 2:214781165-214781165	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.738A>G; p.P246P; 2:214781136-214781136	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.267G>A; p.P89P; 2:214792394-214792394	breast	carcinoma	Substitution - coding silent
c.70C>T; p.P24S; 2:214809500-214809500	breast	carcinoma	Substitution - Missense
c.70C>T; p.P24S; 2:214809500-214809500	breast	carcinoma	Substitution - Missense
c.253G>A; p.V85M; 2:214792408-214792408	breast	carcinoma	Substitution - Missense
c.1755C>T; p.L585L; 2:214745777-214745777	breast	carcinoma	Substitution - coding silent
c.557G>A; p.S186N; 2:214781317-214781317	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1837delG; p.A613fs*6; 2:214745133-214745133	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1721G>A; p.G574D; 2:214745811-214745811	central_nervous_system; brain	glioma	Substitution - Missense
c.716T>G; p.L239R; 2:214781158-214781158	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.490C>T; p.Q164*; 2:214781384-214781384	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1791T>C; p.Y597Y; 2:214745741-214745741	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1217G>A; p.R406Q; 2:214780657-214780657	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1873C>A; p.L625I; 2:214745097-214745097	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1922G>A; p.R641Q; 2:214730490-214730490	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.420G>T; p.K140N; 2:214781454-214781454	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.425C>A; p.S142*; 2:214781449-214781449	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1317C>T; p.G439G; 2:214769310-214769310	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.893T>C; p.V298A; 2:214780981-214780981	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2082C>T; p.L694L; 2:214728928-214728928	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.568G>T; p.D190Y; 2:214781306-214781306	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1053G>C; p.T351T; 2:214780821-214780821	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1134G>C; p.R378S; 2:214780740-214780740	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1134G>C; p.R378S; 2:214780740-214780740	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.484T>G; p.S162A; 2:214781390-214781390	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.484T>G; p.S162A; 2:214781390-214781390	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1519G>A; p.V507M; 2:214767531-214767531	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1519G>A; p.V507M; 2:214767531-214767531	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1549G>A; p.G517R; 2:214767501-214767501	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1567G>A; p.V523I; 2:214767483-214767483	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1949A>C; p.K650T; 2:214730463-214730463	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.599C>T; p.A200V; 2:214781275-214781275	kidney	other; neoplasm	Substitution - Missense
c.312G>C; p.M104I; 2:214792349-214792349	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1490C>T; p.P497L; 2:214767560-214767560	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.970C>A; p.H324N; 2:214780904-214780904	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.989G>T; p.S330I; 2:214780885-214780885	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1806T>C; p.S602S; 2:214745726-214745726	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1053G>C; p.T351T; 2:214780821-214780821	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1323A>G; p.I441M; 2:214769304-214769304	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.489G>A; p.V163V; 2:214781385-214781385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.547G>C; p.V183L; 2:214781327-214781327	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1134G>C; p.R378S; 2:214780740-214780740	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2039G>A; p.W680*; 2:214728971-214728971	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1242G>T; p.M414I; 2:214780632-214780632	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.914A>C; p.K305T; 2:214780960-214780960	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2037G>T; p.L679F; 2:214728973-214728973	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.158+1G>A; p.?; 2:214809411-214809411	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.70C>T; p.P24S; 2:214809500-214809500	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.420G>T; p.K140N; 2:214781454-214781454	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.900T>C; p.P300P; 2:214780974-214780974	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.859G>T; p.E287*; 2:214781015-214781015	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2170G>A; p.A724T; 2:214728840-214728840	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1519G>A; p.V507M; 2:214767531-214767531	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2170G>A; p.A724T; 2:214728840-214728840	large_intestine; colon	carcinoma	Substitution - Missense
c.334C>T; p.R112*; 2:214792327-214792327	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1804A>T; p.S602C; 2:214745728-214745728	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.422A>C; p.N141T; 2:214781452-214781452	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1071_1091del21; p.L359_P365delLPECSSP; 2:214780783-214780803	large_intestine; colon	carcinoma	Deletion - In frame
c.1317C>T; p.G439G; 2:214769310-214769310	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.623delA; p.K208fs*4; 2:214781251-214781251	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.623delA; p.K208fs*4; 2:214781251-214781251	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2224T>G; p.L742V; 2:214728786-214728786	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1378G>A; p.A460T; 2:214769249-214769249	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2253G>A; p.R751R; 2:214728757-214728757	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.589A>T; p.K197*; 2:214781285-214781285	liver	carcinoma	Substitution - Nonsense
c.589A>T; p.K197*; 2:214781285-214781285	liver	carcinoma	Substitution - Nonsense
c.1995A>T; p.E665D; 2:214730417-214730417	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1139A>C; p.N380T; 2:214780735-214780735	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.6G>A; p.P2P; 2:214809564-214809564	liver	carcinoma	Substitution - coding silent
c.2074A>T; p.I692F; 2:214728936-214728936	liver	carcinoma	Substitution - Missense
c.2074A>T; p.I692F; 2:214728936-214728936	liver	carcinoma	Substitution - Missense
c.487G>A; p.V163M; 2:214781387-214781387	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1805G>T; p.S602I; 2:214745727-214745727	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1232C>A; p.P411H; 2:214780642-214780642	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1886G>A; p.W629*; 2:214745084-214745084	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.521G>T; p.S174I; 2:214781353-214781353	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1674A>T; p.S558S; 2:214752450-214752450	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1032T>G; p.S344R; 2:214780842-214780842	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1980C>G; p.S660R; 2:214730432-214730432	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1315-2A>C; p.?; 2:214769314-214769314	lung	carcinoma; adenocarcinoma	Unknown
c.1237G>A; p.A413T; 2:214780637-214780637	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.61C>T; p.R21C; 2:214809509-214809509	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1468A>C; p.T490P; 2:214767582-214767582	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1071_1091del21; p.L359_P365delLPECSSP; 2:214780783-214780803	lung	carcinoma	Deletion - In frame
c.1317C>T; p.G439G; 2:214769310-214769310	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.502G>A; p.A168T; 2:214781372-214781372	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.502G>A; p.A168T; 2:214781372-214781372	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2021G>T; p.G674V; 2:214728989-214728989	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1056G>A; p.V352V; 2:214780818-214780818	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1727G>T; p.G576V; 2:214745805-214745805	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1543T>G; p.S515A; 2:214767507-214767507	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1466C>T; p.T489I; 2:214767584-214767584	NS	malignant_melanoma	Substitution - Missense
c.365-1G>A; p.?; 2:214781510-214781510	NS	NS	Unknown
c.754C>T; p.P252S; 2:214781120-214781120	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1843C>G; p.Q615E; 2:214745127-214745127	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.623_624insA; p.K209fs*5; 2:214781250-214781251	oesophagus; lower_third	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1165A>C; p.S389R; 2:214780709-214780709	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2001G>T; p.L667L; 2:214730411-214730411	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.523G>C; p.A175P; 2:214781351-214781351	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.276A>G; p.I92M; 2:214792385-214792385	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.1788A>G; p.K596K; 2:214745744-214745744	pancreas	carcinoma	Substitution - coding silent
c.265C>G; p.P89A; 2:214792396-214792396	pancreas	carcinoma	Substitution - Missense
c.265C>G; p.P89A; 2:214792396-214792396	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.1415G>A; p.G472E; 2:214767635-214767635	pancreas	carcinoma	Substitution - Missense
c.1972C>T; p.R658C; 2:214730440-214730440	pancreas	carcinoma	Substitution - Missense
c.965G>A; p.R322H; 2:214780909-214780909	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - Missense
c.846G>T; p.L282F; 2:214781028-214781028	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.825_829delAACTG; p.T276fs*7; 2:214781045-214781049	prostate	carcinoma	Deletion - Frameshift
c.747C>T; p.I249I; 2:214781127-214781127	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.841C>T; p.P281S; 2:214781033-214781033	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1366G>A; p.V456I; 2:214769261-214769261	prostate	carcinoma	Substitution - Missense
c.1995A>G; p.E665E; 2:214730417-214730417	prostate	carcinoma	Substitution - coding silent
c.62G>T; p.R21L; 2:214809508-214809508	skin	malignant_melanoma	Substitution - Missense
c.1304C>T; p.A435V; 2:214780570-214780570	skin	malignant_melanoma	Substitution - Missense
c.1339C>T; p.L447F; 2:214769288-214769288	skin	malignant_melanoma	Substitution - Missense
c.1841T>C; p.V614A; 2:214745129-214745129	skin	malignant_melanoma	Substitution - Missense
c.265C>T; p.P89S; 2:214792396-214792396	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1568+10T>G; p.?; 2:214767472-214767472	stomach	adenocarcinoma	Unknown
c.245G>T; p.G82V; 2:214792416-214792416	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.2230A>G; p.N744D; 2:214728780-214728780	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.456G>A; p.K152K; 2:214781418-214781418	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2258G>A; p.G753D; 2:214728752-214728752	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1373A>T; p.D458V; 2:214769254-214769254	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2025C>T; p.C675C; 2:214728985-214728985	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2179G>A; p.D727N; 2:214728831-214728831	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2119C>T; p.P707S; 2:214728891-214728891	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1123A>G; p.T375A; 2:214780751-214780751	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1439T>C; p.L480S; 2:214767611-214767611	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.70C>T; p.P24S; 2:214809500-214809500	thyroid	other; neoplasm	Substitution - Missense
c.1811-10delT; p.?; 2:214745169-214745169	thyroid	carcinoma; anaplastic_carcinoma	Unknown
c.692C>G; p.S231C; 2:214781182-214781182	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1356T>G; p.S452R; 2:214769271-214769271	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1816C>G; p.H606D; 2:214745154-214745154	urinary_tract; bladder	carcinoma	Substitution - Missense
c.605C>G; p.S202C; 2:214781269-214781269	urinary_tract; bladder	carcinoma	Substitution - Missense

Oncogene database

COSMIC confirmed somatic mutation [Top]

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