PMID: 29292755

Dualistic Role of BARD1 in Cancer.

Genes
F Cimmino, D Formicola, M Capasso
2017-12-08

227 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-215609807-C-A BARD1 c.1887G>T p.Trp629Cys Missense 9/11 -
2-215609807-C-G BARD1 c.1887G>C p.Trp629Cys Missense 9/11 -
2-215593455-G-A BARD1 c.2279C>T p.Ser760Leu Missense 11/11 -
2-215632308-G-A BARD1 c.1466C>T p.Thr489Ile Missense 6/11 -
2-215645356-C-G BARD1 c.1242G>C p.Met414Ile Missense 4/11 -
2-215645991-C-T BARD1 c.607G>A p.Gly203Arg Missense 4/11 -
2-215645991-C-A BARD1 c.607G>T p.Gly203* Nonsense 4/11 -
2-215645356-C-T BARD1 c.1242G>A p.Met414Ile Missense 4/11 -
2-215593709-G-A BARD1 c.2025C>T p.Cys675Cys Synonymous 11/11 -
2-215646141-TCTT-TCTTTCTT BARD1 c.457_460dup p.Val154Glufs*8 Frameshift 4/11 -
2-215645698-A-T BARD1 c.900T>A p.Pro300Pro Synonymous 4/11 -
2-215609808-C-A BARD1 c.1886G>T p.Trp629Leu Missense 9/11 -
2-215657170-C-T BARD1 c.216-1G>A - IntronicSNV - 2/10
2-215645507-G-A BARD1 c.1091C>T p.Ser364Leu Missense 4/11 -
2-215593555-C-T BARD1 c.2179G>A p.Asp727Asn Missense 11/11 -
2-215645537-G-C BARD1 c.1061C>G p.Ser354* Nonsense 4/11 -
2-215657140-C-A BARD1 c.245G>T p.Gly82Val Missense 3/11 -
2-215593504-T-C BARD1 c.2230A>G p.Asn744Asp Missense 11/11 -
2-215646051-C-G BARD1 c.547G>C p.Val183Leu Missense 4/11 -
2-215645651-A-C BARD1 c.947T>G p.Leu316* Nonsense 4/11 -
2-215645684-T-G BARD1 c.914A>C p.Lys305Thr Missense 4/11 -
2-215595234-T-A BARD1 c.1904-2A>T - IntronicSNV - 9/10
2-215646075-C-G BARD1 c.523G>C p.Ala175Pro Missense 4/11 -
2-215645382-G-A BARD1 c.1216C>T p.Arg406* Nonsense 4/11 -
2-215610560-T-G BARD1 c.1696A>C p.Arg566Arg Synonymous 8/11 -
2-215645881-C-T BARD1 c.717G>A p.Leu239Leu Synonymous 4/11 -
2-215617196-G-A BARD1 c.1652C>T p.Ser551Leu Missense 7/11 -
2-215632297-G-C BARD1 c.1477C>G p.Gln493Glu Missense 6/11 -
2-215645679-A-T BARD1 c.919T>A p.Tyr307Asn Missense 4/11 -
2-215634034-G-A BARD1 c.1317C>T p.Gly439Gly Synonymous 5/11 -
2-215593476-C-T BARD1 c.2258G>A p.Gly753Asp Missense 11/11 -
2-215595156-G-C BARD1 c.1980C>G p.Ser660Arg Missense 10/11 -
2-215646142-C-T BARD1 c.456G>A p.Lys152Lys Synonymous 4/11 -
2-215646030-C-A BARD1 c.568G>T p.Asp190Tyr Missense 4/11 -
2-215609884-C-T BARD1 c.1811-1G>A - IntronicSNV - 8/10
2-215633978-T-A BARD1 c.1373A>T p.Asp458Val Missense 5/11 -
2-215592306-G-A BARD1 c.*1094C>T - IntergenicSNV 11/11 -
2-215617259-G-A BARD1 c.1589C>T p.Pro530Leu Missense 7/11 -
2-215645993-G-C BARD1 c.605C>G p.Ser202Cys Missense 4/11 -
2-215645381-C-T BARD1 c.1217G>A p.Arg406Gln Missense 4/11 -
2-215661798-G-A BARD1 c.202C>T p.His68Tyr Missense 2/11 -
2-215632282-G-T BARD1 c.1492C>A p.Leu498Ile Missense 6/11 -
2-215645796-C-T BARD1 c.802G>A p.Glu268Lys Missense 4/11 -
2-215632359-C-T BARD1 c.1415G>A p.Gly472Glu Missense 6/11 -
2-215645889-G-C BARD1 c.709C>G p.Gln237Glu Missense 4/11 -
2-215610558-C-T BARD1 c.1698G>A p.Arg566Arg Synonymous 8/11 -
2-215674233-G-A BARD1 c.61C>T p.Arg21Cys Missense 1/11 -
2-215645628-G-T BARD1 c.970C>A p.His324Asn Missense 4/11 -
2-215633977-G-A BARD1 c.1374C>T p.Asp458Asp Synonymous 5/11 -
2-215645426-G-C BARD1 c.1172C>G p.Ser391* Nonsense 4/11 -
2-215645426-G-T BARD1 c.1172C>A p.Ser391* Nonsense 4/11 -
2-215633994-C-T BARD1 c.1357G>A p.Asp453Asn Missense 5/11 -
2-215645523-A-G BARD1 c.1075T>C p.Leu359Leu Synonymous 4/11 -
2-215593615-G-A BARD1 c.2119C>T p.Pro707Ser Missense 11/11 -
2-215593660-T-A BARD1 c.2074A>T p.Ile692Phe Missense 11/11 -
2-215617196-G-C BARD1 c.1652C>G p.Ser551* Nonsense 7/11 -
2-215674192-C-T BARD1 c.102G>A p.Trp34* Nonsense 1/11 -
2-215674261-C-A BARD1 c.33G>T p.Gln11His Missense 1/11 -
2-215645382-G-C BARD1 c.1216C>G p.Arg406Gly Missense 4/11 -
2-215645633-C-T BARD1 c.965G>A p.Arg322His Missense 4/11 -
2-215645521-C-T BARD1 c.1077G>A p.Leu359Leu Synonymous 4/11 -
2-215645366-G-T BARD1 c.1232C>A p.Pro411His Missense 4/11 -
2-215609878-G-C BARD1 c.1816C>G p.His606Asp Missense 9/11 -
2-215617226-G-A BARD1 c.1622C>T p.Ser541Leu Missense 7/11 -
2-215617226-G-T BARD1 c.1622C>A p.Ser541* Nonsense 7/11 -
2-215595214-C-T BARD1 c.1922G>A p.Arg641Gln Missense 10/11 -
2-215645508-A-T BARD1 c.1090T>A p.Ser364Thr Missense 4/11 -
2-215610468-T-C BARD1 c.1788A>G p.Lys596Lys Synonymous 8/11 -
2-215645542-C-T BARD1 c.1056G>A p.Val352Val Synonymous 4/11 -
2-215595156-G-T BARD1 c.1980C>A p.Ser660Arg Missense 10/11 -
2-215610501-G-A BARD1 c.1755C>T p.Leu585Leu Synonymous 8/11 -
2-215610501-G-T BARD1 c.1755C>A p.Leu585Leu Synonymous 8/11 -
2-215610515-G-T BARD1 c.1741C>A p.Gln581Lys Missense 8/11 -
2-215657079-G-T BARD1 c.306C>A p.Asp102Glu Missense 3/11 -
2-215617178-C-G BARD1 c.1670G>C p.Cys557Ser Missense 7/11 -
2-215632237-A-G BARD1 c.1537T>C p.Leu513Leu Synonymous 6/11 -
2-215645566-A-C BARD1 c.1032T>G p.Ser344Arg Missense 4/11 -
2-215646150-G-C BARD1 c.448C>G p.Arg150Gly Missense 4/11 -
2-215645566-A-T BARD1 c.1032T>A p.Ser344Arg Missense 4/11 -
2-215645367-G-A BARD1 c.1231C>T p.Pro411Ser Missense 4/11 -
2-215646150-G-A BARD1 c.448C>T p.Arg150* Nonsense 4/11 -
2-215661842-C-T BARD1 c.159-1G>A - IntronicSNV - 1/10
2-215645851-G-A BARD1 c.747C>T p.Ile249Ile Synonymous 4/11 -
2-215595176-G-A BARD1 c.1960C>T p.Pro654Ser Missense 10/11 -
2-215645790-C-T BARD1 c.808G>A p.Glu270Lys Missense 4/11 -
2-215593481-C-T BARD1 c.2253G>A p.Arg751Arg Synonymous 11/11 -
2-215645851-G-T BARD1 c.747C>A p.Ile249Ile Synonymous 4/11 -
2-215593543-G-A BARD1 c.2191C>T p.Arg731Cys Missense 11/11 -
2-215610454-T-C BARD1 c.1802A>G p.Asp601Gly Missense 8/11 -
2-215645294-G-A BARD1 c.1304C>T p.Ala435Val Missense 4/11 -
2-215593713-C-A BARD1 c.2021G>T p.Gly674Val Missense 11/11 -
2-215645379-C-T BARD1 c.1219G>A p.Val407Met Missense 4/11 -
2-215645606-G-A BARD1 c.992C>T p.Pro331Leu Missense 4/11 -
2-215610451-C-A BARD1 c.1805G>T p.Ser602Ile Missense 8/11 -
2-215632335-A-G BARD1 c.1439T>C p.Leu480Ser Missense 6/11 -
2-215632225-C-G BARD1 c.1549G>C p.Gly517Arg Missense 6/11 -
2-215610465-A-G BARD1 c.1791T>C p.Tyr597Tyr Synonymous 8/11 -
2-215646146-C-T BARD1 c.452G>A p.Ser151Asn Missense 4/11 -
2-215609853-A-G BARD1 c.1841T>C p.Val614Ala Missense 9/11 -
2-215657109-T-C BARD1 c.276A>G p.Ile92Met Missense 3/11 -
2-215674215-C-T BARD1 c.79G>A p.Glu27Lys Missense 1/11 -
2-215593413-G-A BARD1 c.2321C>T p.Pro774Leu Missense 11/11 -
2-215674178-G-C BARD1 c.116C>G p.Ala39Gly Missense 1/11 -
2-215632231-A-C BARD1 c.1543T>G p.Ser515Ala Missense 6/11 -
2-215645393-G-C BARD1 c.1205C>G p.Ser402* Nonsense 4/11 -
2-215632363-G-A BARD1 c.1411C>T p.His471Tyr Missense 6/11 -
2-215610566-G-A BARD1 c.1690C>T p.Gln564* Nonsense 8/11 -
2-215593734-T-C BARD1 c.2002-2A>G - IntronicSNV - 10/10
2-215593734-T-A BARD1 c.2002-2A>T - IntronicSNV - 10/10
2-215593734-T-G BARD1 c.2002-2A>C - IntronicSNV - 10/10
2-215674224-GC-ACGCGGAACGAGGCTCGTTCCCGGA BARD1 c.69_70delinsTCCGGGAACGAGCCTCGTTCCGCGT p.Ala25Glyfs*41 Frameshift 1/11 -
2-215646079-T-G BARD1 c.519A>C p.Ala173Ala Synonymous 4/11 -
2-215646079-T-C BARD1 c.519A>G p.Ala173Ala Synonymous 4/11 -
2-215632225-C-T BARD1 c.1549G>A p.Gly517Arg Missense 6/11 -
2-215632229-G-A BARD1 c.1545C>T p.Ser515Ser Synonymous 6/11 -
2-215645433-T-G BARD1 c.1165A>C p.Ser389Arg Missense 4/11 -
2-215617174-T-G BARD1 c.1674A>C p.Ser558Ser Synonymous 7/11 -
2-215617174-T-A BARD1 c.1674A>T p.Ser558Ser Synonymous 7/11 -
2-215617174-T-C BARD1 c.1674A>G p.Ser558Ser Synonymous 7/11 -
2-215657119-G-T BARD1 c.266C>A p.Pro89Gln Missense 3/11 -
2-215595167-G-A BARD1 c.1969C>T p.Pro657Ser Missense 10/11 -
2-215646047-G-A BARD1 c.551C>T p.Ser184Phe Missense 4/11 -
2-215610501-G-C BARD1 c.1755C>G p.Leu585Leu Synonymous 8/11 -
2-215672546-G-T BARD1 c.158+1590C>A - IntronicSNV - 1/10
2-215595141-T-G BARD1 c.1995A>C p.Glu665Asp Missense 10/11 -
2-215595141-T-C BARD1 c.1995A>G p.Glu665Glu Synonymous 10/11 -
2-215595141-T-A BARD1 c.1995A>T p.Glu665Asp Missense 10/11 -
2-215657120-G-A BARD1 c.265C>T p.Pro89Ser Missense 3/11 -
2-215609851-G-C BARD1 c.1843C>G p.Gln615Glu Missense 9/11 -
2-215645860-T-C BARD1 c.738A>G p.Pro246Pro Synonymous 4/11 -
2-215609821-G-T BARD1 c.1873C>A p.Leu625Ile Missense 9/11 -
2-215672546-G-A BARD1 c.158+1590C>T - IntronicSNV - 1/10
2-215645844-G-A BARD1 c.754C>T p.Pro252Ser Missense 4/11 -
2-215617234-A-G BARD1 c.1614T>C p.Ser538Ser Synonymous 7/11 -
2-215633985-C-T BARD1 c.1366G>A p.Val456Ile Missense 5/11 -
2-215593481-C-A BARD1 c.2253G>T p.Arg751Arg Synonymous 11/11 -
2-215617170-C-T BARD1 c.1677+1G>A - IntronicSNV - 7/10
2-215617170-C-G BARD1 c.1677+1G>C - IntronicSNV - 7/10
2-215674232-C-A BARD1 c.62G>T p.Arg21Leu Missense 1/11 -
2-215645609-C-A BARD1 c.989G>T p.Ser330Ile Missense 4/11 -
2-215645982-G-T BARD1 c.616C>A p.Gln206Lys Missense 4/11 -
2-215632229-G-T BARD1 c.1545C>A p.Ser515Ser Synonymous 6/11 -
2-215632229-G-C BARD1 c.1545C>G p.Ser515Ser Synonymous 6/11 -
2-215657079-G-C BARD1 c.306C>G p.Asp102Glu Missense 3/11 -
2-215593510-A-C BARD1 c.2224T>G p.Leu742Val Missense 11/11 -
2-215595140-G-A BARD1 c.1996C>T p.Gln666* Nonsense 10/11 -
2-215634038-T-C BARD1 c.1315-2A>G - IntronicSNV - 4/10
2-215645999-G-A BARD1 c.599C>T p.Ala200Val Missense 4/11 -
2-215645925-C-T BARD1 c.673G>A p.Glu225Lys Missense 4/11 -
2-215633995-A-C BARD1 c.1356T>G p.Ser452Arg Missense 5/11 -
2-215593466-C-T BARD1 c.2268G>A p.Trp756* Nonsense 11/11 -
2-215674291-C-T BARD1 c.3G>A p.Met1Ile Missense 1/11 -
2-215593631-C-A BARD1 c.2103G>T p.Gln701His Missense 11/11 -
2-215593631-C-G BARD1 c.2103G>C p.Gln701His Missense 11/11 -
2-215645757-G-A BARD1 c.841C>T p.Pro281Ser Missense 4/11 -
2-215595137-G-A BARD1 c.1999C>T p.Leu667Leu Synonymous 10/11 -
2-215617209-C-A BARD1 c.1639G>T p.Glu547* Nonsense 7/11 -
2-215645386-G-C BARD1 c.1212C>G p.Tyr404* Nonsense 4/11 -
2-215657118-C-T BARD1 c.267G>A p.Pro89Pro Synonymous 3/11 -
2-215633995-A-T BARD1 c.1356T>A p.Ser452Arg Missense 5/11 -
2-215609790-C-A BARD1 c.1903+1G>T - IntronicSNV - 9/10
2-215609790-C-T BARD1 c.1903+1G>A - IntronicSNV - 9/10
2-215646102-G-A BARD1 c.496C>T p.Gln166* Nonsense 4/11 -
2-215661842-C-A BARD1 c.159-1G>T - IntronicSNV - 1/10
2-215657120-G-C BARD1 c.265C>G p.Pro89Ala Missense 3/11 -
2-215646079-T-A BARD1 c.519A>T p.Ala173Ala Synonymous 4/11 -
2-215646077-C-A BARD1 c.521G>T p.Ser174Ile Missense 4/11 -
2-215633976-G-A BARD1 c.1375C>T p.His459Tyr Missense 5/11 -
2-215617260-G-A BARD1 c.1588C>T p.Pro530Ser Missense 7/11 -
2-215595158-T-G BARD1 c.1978A>C p.Ser660Arg Missense 10/11 -
2-215632235-T-C BARD1 c.1539A>G p.Leu513Leu Synonymous 6/11 -
2-215645356-C-A BARD1 c.1242G>T p.Met414Ile Missense 4/11 -
2-215632284-G-A BARD1 c.1490C>T p.Pro497Leu Missense 6/11 -
2-215657051-G-T BARD1 c.334C>A p.Arg112Arg Synonymous 3/11 -
2-215657051-G-A BARD1 c.334C>T p.Arg112* Nonsense 3/11 -
2-215674239-C-T BARD1 c.55G>A p.Glu19Lys Missense 1/11 -
2-215674239-C-A BARD1 c.55G>T p.Glu19* Nonsense 1/11 -
2-215674239-C-G BARD1 c.55G>C p.Glu19Gln Missense 1/11 -
2-215609808-C-T BARD1 c.1886G>A p.Trp629* Nonsense 9/11 -
2-215593652-G-A BARD1 c.2082C>T p.Leu694Leu Synonymous 11/11 -
2-215645698-A-C BARD1 c.900T>G p.Pro300Pro Synonymous 4/11 -
2-215645698-A-G BARD1 c.900T>C p.Pro300Pro Synonymous 4/11 -
2-215595135-C-A BARD1 c.2001G>T p.Leu667Leu Synonymous 10/11 -
2-215595135-C-G BARD1 c.2001G>C p.Leu667Leu Synonymous 10/11 -
2-215595135-C-T BARD1 c.2001G>A p.Leu667Leu Synonymous 10/11 -
2-215595166-G-A BARD1 c.1970C>T p.Pro657Leu Missense 10/11 -
2-215645568-T-G BARD1 c.1030A>C p.Ser344Arg Missense 4/11 -
2-215593447-A-C BARD1 c.2287T>G p.Phe763Val Missense 11/11 -
2-215645705-A-G BARD1 c.893T>C p.Val298Ala Missense 4/11 -
2-215645333-A-C BARD1 c.1265T>G p.Val422Gly Missense 4/11 -
2-215645934-C-A BARD1 c.664G>T p.Ala222Ser Missense 4/11 -
2-215595187-T-G BARD1 c.1949A>C p.Lys650Thr Missense 10/11 -
2-215632375-C-T BARD1 c.1399G>A p.Glu467Lys Missense 6/11 -
2-215610445-C-T BARD1 c.1810+1G>A - IntronicSNV - 8/10
2-215646072-G-A BARD1 c.526C>T p.Gln176* Nonsense 4/11 -
2-215646114-A-C BARD1 c.484T>G p.Ser162Ala Missense 4/11 -
2-215593564-C-T BARD1 c.2170G>A p.Ala724Thr Missense 11/11 -
2-215645865-G-A BARD1 c.733C>T p.Gln245* Nonsense 4/11 -
2-215645431-A-T BARD1 c.1167T>A p.Ser389Arg Missense 4/11 -
2-215672546-G-C BARD1 c.158+1590C>G - IntronicSNV - 1/10
2-215645431-A-C BARD1 c.1167T>G p.Ser389Arg Missense 4/11 -
2-215657087-G-A BARD1 c.298C>T p.Gln100* Nonsense 3/11 -
2-215617172-A-G BARD1 c.1676T>C p.Val559Ala Missense 7/11 -
2-215634012-G-A BARD1 c.1339C>T p.Leu447Phe Missense 5/11 -
2-215645393-G-T BARD1 c.1205C>A p.Ser402* Nonsense 4/11 -
2-215657073-C-G BARD1 c.312G>C p.Met104Ile Missense 3/11 -
2-215632306-T-G BARD1 c.1468A>C p.Thr490Pro Missense 6/11 -
2-215610503-G-A BARD1 c.1753C>T p.Leu585Phe Missense 8/11 -
17-41245571-T-C BRCA1 c.1977A>G p.Pro659Pro Synonymous 10/23 -
2-215646044-G-A BARD1 c.554C>T p.Pro185Leu Missense 4/11 -
2-215632207-C-T BARD1 c.1567G>A p.Val523Ile Missense 6/11 -
2-215646111-C-T BARD1 c.487G>A p.Val163Met Missense 4/11 -
2-215593563-G-A BARD1 c.2171C>T p.Ala724Val Missense 11/11 -
2-215645882-A-C BARD1 c.716T>G p.Leu239Arg Missense 4/11 -
2-215634005-T-TT BARD1 c.1349_1349dup p.Asn450Lysfs*4 Frameshift 5/11 -
2-215645361-C-T BARD1 c.1237G>A p.Ala413Thr Missense 4/11 -
2-215657108-G-A BARD1 c.277C>T p.Gln93* Nonsense 3/11 -
2-215633997-T-G BARD1 c.1354A>C p.Ser452Arg Missense 5/11 -
2-215645580-T-A BARD1 c.1018A>T p.Ile340Phe Missense 4/11 -
2-215617247-G-T BARD1 c.1601C>A p.Thr534Lys Missense 7/11 -
2-215645475-T-C BARD1 c.1123A>G p.Thr375Ala Missense 4/11 -
2-215646219-T-C BARD1 c.379A>G p.Lys127Glu Missense 4/11 -
2-215645606-G-C BARD1 c.992C>G p.Pro331Arg Missense 4/11 -
2-215595215-G-A BARD1 c.1921C>T p.Arg641* Nonsense 10/11 -
2-215646178-C-A BARD1 c.420G>T p.Lys140Asn Missense 4/11 -
2-215610529-C-A BARD1 c.1727G>T p.Gly576Val Missense 8/11 -
2-215645906-G-C BARD1 c.692C>G p.Ser231Cys Missense 4/11 -