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Gene Symbol | BARD1 | ||||||||||
Synonyms | |||||||||||
Gene Description | BARD1, BRCA1 associated RING domain 1, forms a heterodimer with Brca1, which functions as an E3 ubiquitin ligase and mediator of DNA repair through homology-directed repair (HDR) (PMID: 8944023, PMID: 30925164) and centrosome regulation (PMID: 29858377). Germline mutations in BARD1 are associated with increased susceptibility to breast and ovarian cancers (PMID: 21344236), somatic mutations are highest in colon and endometrial cancers (PMID: 27283171) and BARD1 has also been implicated in neuroblastoma (PMID: 32047556). | ||||||||||
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Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
BARD1 A168T | unknown | |
BARD1 A198V | unknown | |
BARD1 A40V | unknown | |
BARD1 A435V | no effect - predicted | |
BARD1 A460T | loss of function | Olaparib |
BARD1 A518V | unknown | |
BARD1 A638T | unknown | |
BARD1 A721T | unknown | |
BARD1 A724T | unknown | |
BARD1 A724V | unknown | |
BARD1 amp | no effect | |
BARD1 C469R | unknown | |
BARD1 C53W | loss of function | Olaparib |
BARD1 C557S | unknown | |
BARD1 C62S | no effect - predicted | |
BARD1 C645R | loss of function | Olaparib |
BARD1 C71Y | loss of function | Olaparib |
BARD1 C74Y | unknown | |
BARD1 C78S | no effect - predicted | |
BARD1 C83R | loss of function | Olaparib |
BARD1 D135N | loss of function | |
BARD1 D190N | no effect - predicted | |
BARD1 D190Y | no effect - predicted | |
BARD1 D230E | no effect - predicted | |
BARD1 D612fs | loss of function - predicted | Olaparib |
BARD1 D612V | no effect - predicted | |
BARD1 del | loss of function | Olaparib |
BARD1 E223G | no effect - predicted | |
BARD1 E27Q | unknown | |
BARD1 E287* | loss of function - predicted | Olaparib |
BARD1 E355K | unknown | |
BARD1 E361D | no effect - predicted | |
BARD1 E652fs | loss of function - predicted | Olaparib |
BARD1 E67K | no effect - predicted | |
BARD1 F677L | unknown | |
BARD1 G203* | loss of function - predicted | |
BARD1 G32V | unknown | |
BARD1 G451fs | loss of function - predicted | Olaparib |
BARD1 G574D | unknown | |
BARD1 G576V | unknown | |
BARD1 G623E | loss of function | Olaparib |
BARD1 G656R | unknown | |
BARD1 G681fs | loss of function - predicted | Olaparib |
BARD1 G698D | loss of function - predicted | Olaparib |
BARD1 G700Afs*14 | loss of function - predicted | Olaparib |
BARD1 G753D | loss of function | Olaparib |
BARD1 H116Y | unknown | |
BARD1 H483R | unknown | |
BARD1 H506R | unknown | |
BARD1 H556D | unknown | |
BARD1 H606D | unknown | |
BARD1 H686A | unknown | |
BARD1 I214M | unknown | |
BARD1 I249V | no effect - predicted | |
BARD1 I258T | no effect - predicted | |
BARD1 I434F | unknown | |
BARD1 I441M | unknown | |
BARD1 I692T | unknown | |
BARD1 I69M | no effect - predicted | |
BARD1 I738V | no effect | |
BARD1 inact mut | loss of function | Olaparib |
BARD1 K140N | unknown | |
BARD1 K160R | unknown | |
BARD1 K209Efs*5 | loss of function - predicted | Olaparib |
BARD1 K312N | loss of function | Olaparib |
BARD1 K321Nfs*21 | loss of function - predicted | Olaparib |
BARD1 K540N | unknown | |
BARD1 K757M | unknown | |
BARD1 L239Q | no effect - predicted | |
BARD1 L239R | unknown | |
BARD1 L359_P365del | unknown | |
BARD1 L447C | no effect - predicted | |
BARD1 L447F | unknown | |
BARD1 L44R | loss of function | Olaparib |
BARD1 L465F | loss of function - predicted | Olaparib |
BARD1 L480S | loss of function - predicted | Olaparib |
BARD1 L585I | unknown | |
BARD1 L625I | unknown | |
BARD1 loss | loss of function | Olaparib |
BARD1 M104I | no effect - predicted | |
BARD1 M621I | unknown | |
BARD1 mutant | unknown | |
BARD1 N118S | no effect - predicted | |
BARD1 N295S | loss of function | Olaparib |
BARD1 N326D | no effect - predicted | |
BARD1 N326S | no effect - predicted | |
BARD1 N356I | unknown | |
BARD1 N450H | no effect - predicted | |
BARD1 N488S | unknown | |
BARD1 N626S | unknown | |
BARD1 N744D | unknown | |
BARD1 N98S | no effect - predicted | |
BARD1 P24fs | loss of function - predicted | |
BARD1 P24S | no effect | |
BARD1 P24_A25insGTSLVPP | unknown | |
BARD1 P281S | unknown | |
BARD1 P411H | unknown | |
BARD1 P530L | loss of function - predicted | Olaparib |
BARD1 P707S | loss of function | Olaparib |
BARD1 P84S | unknown | |
BARD1 Q164* | loss of function - predicted | Olaparib |
BARD1 Q237E | unknown | |
BARD1 Q493E | unknown | |
BARD1 Q564* | loss of function - predicted | Olaparib |
BARD1 Q564H | loss of function | Olaparib |
BARD1 Q730* | loss of function - predicted | Olaparib |
BARD1 R112Q | unknown | |
BARD1 R150Q | unknown | |
BARD1 R194K | no effect - predicted | |
BARD1 R21C | unknown | |
BARD1 R21L | unknown | |
BARD1 R322H | no effect - predicted | |
BARD1 R378S | no effect - predicted | |
BARD1 R406* | loss of function - predicted | Olaparib |
BARD1 R406G | unknown | |
BARD1 R406Q | unknown | |
BARD1 R529Q | unknown | |
BARD1 R565C | loss of function - predicted | Olaparib |
BARD1 R565H | unknown | |
BARD1 R641Q | unknown | |
BARD1 R642G | unknown | |
BARD1 R658C | unknown | |
BARD1 R658S | unknown | |
BARD1 R664T | unknown | |
BARD1 R731C | unknown | |
BARD1 R731G | unknown | |
BARD1 R731H | unknown | |
BARD1 S103N | no effect - predicted | |
BARD1 S109R | no effect - predicted | |
BARD1 S142* | loss of function - predicted | Olaparib |
BARD1 S151N | no effect - predicted | |
BARD1 S174I | unknown | |
BARD1 S186N | unknown | |
BARD1 S241C | no effect - predicted | |
BARD1 S279P | unknown | |
BARD1 S339N | unknown | |
BARD1 S339T | unknown | |
BARD1 S342N | unknown | |
BARD1 S389C | unknown | |
BARD1 S389R | unknown | |
BARD1 S551* | loss of function - predicted | Olaparib |
BARD1 S558P | unknown | |
BARD1 S575A | unknown | |
BARD1 S575N | unknown | |
BARD1 S602I | unknown | |
BARD1 S616N | no effect - predicted | |
BARD1 S660R | loss of function - predicted | Olaparib |
BARD1 S704I | unknown | |
BARD1 S761N | unknown | |
BARD1 T267I | unknown | |
BARD1 T343I | unknown | |
BARD1 T351M | unknown | |
BARD1 T54A | unknown | |
BARD1 T598I | loss of function - predicted | Olaparib |
BARD1 T617A | unknown | |
BARD1 T716N | unknown | |
BARD1 T719A | unknown | |
BARD1 V154fs | loss of function | Olaparib |
BARD1 V163M | unknown | |
BARD1 V183L | unknown | |
BARD1 V507A | no effect - predicted | |
BARD1 V507M | no effect - predicted | |
BARD1 V510A | unknown | |
BARD1 V523A | unknown | |
BARD1 V523I | unknown | |
BARD1 V695I | unknown | |
BARD1 V695L | unknown | |
BARD1 V713M | unknown | |
BARD1 V767fs | loss of function | Olaparib |
BARD1 V85L | no effect - predicted | |
BARD1 W146C | unknown | |
BARD1 W34R | loss of function - predicted | Olaparib |
BARD1 wild-type | no effect | |
BARD1 Y533F | unknown |