Pediatric cancer gene database (Pedican) Home
Pedican
Pediatric cancer database
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

580

Name

BARD1

Synonymous

-;BRCA1 associated RING domain 1;BARD1;BRCA1 associated RING domain 1

Definition

BARD-1|BRCA1 associated RING domain 1 isoform alfa|BRCA1 associated RING domain 1 isoform beta|BRCA1 associated RING domain 1 isoform delta|BRCA1 associated RING domain 1 isoform epsilon|BRCA1 associated RING domain 1 isoform eta|BRCA1 associated RING dom

Position

2q34-q35

Gene Type

protein-coding

Gene Mutation:

PCGP germline mutation
PCGP somatic mutation
COSMIC somatic mutation

PCGP germline mutation   [Top]

There is no record for BARD1

PCGP somatic mutation   [Top]

There is no record for BARD1

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

c.484T>G; p.S162A;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma

c.484T>G; p.S162A;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma

c.1356T>G; p.S452R;

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinoma

c.487G>A; p.V163M; 2:215354356-215354356

 lungcarcinoma; adenocarcinoma

c.1805G>T; p.S602I; 2:215318696-215318696

 lungcarcinoma; adenocarcinoma

c.2021G>T; p.G674V;

lungcarcinoma; small_cell_carcinoma

c.158+1G>A; p.?;

large_intestine; coloncarcinoma; adenocarcinoma

c.970C>A; p.H324N;

large_intestine; coloncarcinoma; adenocarcinoma

c.1071_1091del21; p.L359_P365delLPECSSP;

lungcarcinoma

c.276A>G; p.I92M;

pancreascarcinoma; acinar_carcinoma

c.1995A>T; p.E665D;

livercarcinoma; hepatocellular_carcinoma

c.523G>C; p.A175P;

oesophaguscarcinoma; adenocarcinoma

c.754C>T; p.P252S;

oesophaguscarcinoma; adenocarcinoma

c.2001G>T; p.L667L;

oesophagus; lower_thirdcarcinoma; adenocarcinoma

c.1165A>C; p.S389R;

oesophaguscarcinoma; adenocarcinoma

c.623_624insA; p.K209fs*5;

oesophagus; lower_thirdcarcinoma; adenocarcinoma

c.502G>A; p.A168T;

lungcarcinoma; adenocarcinoma

c.589A>T; p.K197*;

livercarcinoma

c.2074A>T; p.I692F;

livercarcinoma

c.1139A>C; p.N380T;

livercarcinoma; hepatocellular_carcinoma

c.1071_1091del21; p.L359_P365delLPECSSP;

large_intestine; coloncarcinoma

c.2170G>A; p.A724T;

large_intestine; coloncarcinoma

c.1886G>A; p.W629*;

lungcarcinoma; adenocarcinoma

c.1727G>T; p.G576V;

lungcarcinoma; adenocarcinoma

c.521G>T; p.S174I;

lungcarcinoma; adenocarcinoma

c.1468A>C; p.T490P;

lungcarcinoma; adenocarcinoma

c.1056G>A; p.V352V;

lungcarcinoma; adenocarcinoma

c.1543T>G; p.S515A;

lungcarcinoma; adenocarcinoma

c.1315-2A>C; p.?;

lungcarcinoma; adenocarcinoma

c.61C>T; p.R21C;

lungcarcinoma; adenocarcinoma

c.1466C>T; p.T489I;

NSmalignant_melanoma

c.502G>A; p.A168T;

lungcarcinoma; non_small_cell_carcinoma

c.1366G>A; p.V456I;

prostatecarcinoma

c.253G>A; p.V85M;

breastcarcinoma

c.365-1G>A; p.?;

NSNS

c.1995A>G; p.E665E;

prostatecarcinoma

c.1317C>T; p.G439G;

lungcarcinoma; small_cell_carcinoma

c.1237G>A; p.A413T;

lungcarcinoma; squamous_cell_carcinoma

c.1232C>A; p.P411H;

lungcarcinoma; squamous_cell_carcinoma

c.1674A>T; p.S558S;

lungcarcinoma; squamous_cell_carcinoma

c.1032T>G; p.S344R;

lungcarcinoma; squamous_cell_carcinoma

c.1980C>G; p.S660R;

lungcarcinoma; squamous_cell_carcinoma

c.1378G>A; p.A460T;

large_intestine; caecumcarcinoma; adenocarcinoma

c.267G>A; p.P89P;

breastcarcinoma

c.547G>C; p.V183L;

large_intestine; coloncarcinoma; adenocarcinoma

c.1804A>T; p.S602C;

large_intestine; coloncarcinoma; adenocarcinoma

c.2253G>A; p.R751R;

large_intestine; coloncarcinoma; adenocarcinoma

c.2039G>A; p.W680*;

large_intestine; coloncarcinoma; adenocarcinoma

c.1323A>G; p.I441M;

large_intestine; caecumcarcinoma; adenocarcinoma

c.623delA; p.K208fs*4;

large_intestine; coloncarcinoma; adenocarcinoma

c.623delA; p.K208fs*4;

large_intestine; caecumcarcinoma; adenocarcinoma

c.2037G>T; p.L679F;

large_intestine; rectumcarcinoma; adenocarcinoma

c.420G>T; p.K140N;

large_intestine; rectumcarcinoma; adenocarcinoma

c.859G>T; p.E287*;

large_intestine; rectumcarcinoma; adenocarcinoma

c.70C>T; p.P24S;

breastcarcinoma

c.490C>T; p.Q164*;

endometriumcarcinoma; endometrioid_carcinoma

c.420G>T; p.K140N;

endometriumcarcinoma; endometrioid_carcinoma

c.716T>G; p.L239R;

endometriumcarcinoma; endometrioid_carcinoma

c.568G>T; p.D190Y;

endometriumcarcinoma; endometrioid_carcinoma

c.1922G>A; p.R641Q;

endometriumcarcinoma; endometrioid_carcinoma

c.1217G>A; p.R406Q;

endometriumcarcinoma; endometrioid_carcinoma

c.425C>A; p.S142*;

endometriumcarcinoma; endometrioid_carcinoma

c.1317C>T; p.G439G;

endometriumcarcinoma; endometrioid_carcinoma

c.1873C>A; p.L625I;

endometriumcarcinoma; endometrioid_carcinoma

c.70C>T; p.P24S;

breastcarcinoma

c.893T>C; p.V298A;

endometriumcarcinoma; endometrioid_carcinoma

c.914A>C; p.K305T;

large_intestine; coloncarcinoma; adenocarcinoma

c.422A>C; p.N141T;

large_intestine; coloncarcinoma; adenocarcinoma

c.312G>C; p.M104I;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.1567G>A; p.V523I;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.2082C>T; p.L694L;

endometriumcarcinoma; endometrioid_carcinoma

c.1791T>C; p.Y597Y;

endometriumcarcinoma; endometrioid_carcinoma

c.1806T>C; p.S602S;

large_intestine; coloncarcinoma; adenocarcinoma

c.747C>T; p.I249I;

prostatecarcinoma; adenocarcinoma

c.489G>A; p.V163V;

large_intestine; coloncarcinoma; adenocarcinoma

c.1816C>G; p.H606D;

urinary_tract; bladdercarcinoma

c.605C>G; p.S202C;

urinary_tract; bladdercarcinoma

c.825_829delAACTG; p.T276fs*7;

prostatecarcinoma

c.1339C>T; p.L447F;

skinmalignant_melanoma

c.1841T>C; p.V614A;

skinmalignant_melanoma

c.1568+10T>G; p.?;

stomachadenocarcinoma

')