All variants in the BRCA2 gene

All records describing functional studies of specific variants.
BRCA2 variants classified by the ENIGMA consortium.
Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
Information The variants shown are described using the NM_000059.3 transcript reference sequence.

2675 entries on 27 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/- _1 c.-764A>G r.(?) p.(=) - - benign g.32889080A>G g.32314943A>G - - BRCA2_003944 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.14 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- _1 c.-481G>A r.(?) p.(=) - - benign g.32889363G>A g.32315226G>A - - BRCA2_003945 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.16 (Asian), 0.18 (African), 0.18 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 1 c.-175C>T r.(?) p.(=) - - benign g.32889669C>T g.32315532C>T - - BRCA2_003946 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.03659 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 1 c.-162G>A r.(?) p.(=) - - benign g.32889682G>A g.32315545G>A - - BRCA2_003947 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0102 (South Asian), derived from 1000 genomes (2013-05-02). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 1 c.-59_-57del r.(?) p.(=) - - benign g.32889785_32889787del g.32315648_32315650del - - BRCA2_001911 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0307 (South Asian), derived from 1000 genomes (2013-05-02). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 1 c.-52A>G r.(?) p.(=) - - benign g.32889792A>G g.32315655A>G - - BRCA2_003404 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.1836 (Asian), 0.126 (African), 0.1636 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 1i c.-40+164G>A r.(?) p.(=) - - benign g.32889968G>A g.32315831G>A - - BRCA2_003948 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.8636 (Asian), 0.5285 (African), 0.777 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 1i c.-40+192C>T r.(?) p.(=) - - benign g.32889996C>T g.32315859C>T - - BRCA2_003949 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0417 (East Asian), derived from 1000 genomes (2013-05-02). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 1i c.-40+222C>T r.(?) p.(=) - - benign g.32890026C>T g.32315889C>T - - BRCA2_003950 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3199 (Asian), 0.1382 (African), 0.1939 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 1i c.-40+360G>A r.(?) p.(=) - - benign g.32890164G>A g.32316027G>A - - BRCA2_003951 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02642 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 1i c.-39-332G>T r.(?) p.(=) - - benign g.32890227G>T g.32316090G>T - - BRCA2_003952 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3374 (Asian), 0.128 (African), 0.2124 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 1i c.-26G>A r.(?) p.(=) - - benign g.32890572G>A g.32316435G>A - - BRCA2_000005 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3689 (Asian), 0.04878 (African), 0.2282 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 1i c.-11C>T r.(?) p.(=) - - benign g.32890587C>T g.32316450C>T - - BRCA2_000007 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02236 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.5del r.(?) p.(Pro2Leufs*23) - - pathogenic (dominant) g.32890602del g.32316465del - - BRCA2_003953 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.10G>T r.(?) p.(Gly4*) - - pathogenic (dominant) g.32890607G>T g.32316470G>T - - BRCA2_003204 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.17_18del r.(?) p.(Lys6Argfs*7) - - pathogenic (dominant) g.32890614_32890615del g.32316477_32316478del - - BRCA2_003206 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.22_23del r.(?) p.(Arg8Alafs*5) - - pathogenic (dominant) g.32890619_32890620del g.32316482_32316483del - - BRCA2_001861 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.26del r.(?) p.(Pro9Glnfs*16) - - pathogenic (dominant) g.32890623del g.32316486del - - BRCA2_003211 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.36del r.(?) p.(Phe12Leufs*13) - - pathogenic (dominant) g.32890633del g.32316496del - - BRCA2_001863 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.36dup r.(?) p.(Glu13*) - - pathogenic (dominant) g.32890633dup g.32316496dup 36dupT - BRCA2_003954 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.37G>T r.(?) p.(Glu13*) - - pathogenic (dominant) g.32890634G>T g.32316497G>T - - BRCA2_003955 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.37_38insT r.(?) p.(Glu13Valfs*4) - - pathogenic (dominant) g.32890634_32890635insT g.32316497_32316498insT - - BRCA2_003956 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.37_44del r.(?) p.(Glu13*) - - pathogenic (dominant) g.32890634_32890641del g.32316497_32316504del - - BRCA2_003214 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.48dup r.(?) p.(Thr17Aspfs*14) - - pathogenic (dominant) g.32890645dup g.32316508dup - - BRCA2_003216 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.48_50delinsATCGATCGAT r.(?) p.(Thr17Serfs*16) - - pathogenic (dominant) g.32890645_32890647delinsATCGATCGAT g.32316508_32316510delinsATCGATCGAT - - BRCA2_003957 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.51dup r.(?) p.(Arg18Thrfs*13) - - pathogenic (dominant) g.32890648dup g.32316511dup 51dupA - BRCA2_003958 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.51_52del r.(?) p.(Arg18Leufs*12) - - pathogenic (dominant) g.32890648_32890649del g.32316511_32316512del - - BRCA2_000008 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.52_61del r.(?) p.(Arg18Lysfs*4) - - pathogenic (dominant) g.32890649_32890658del g.32316512_32316521del - - BRCA2_003959 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2 c.53G>A r.(?) p.(Arg18His) - - benign g.32890650G>A g.32316513G>A - - BRCA2_000009 IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon 2008 (PMID:18951446). Class 1 based on posterior probability = 0.00035 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 2 c.63del r.(?) p.(Ala22Glnfs*3) - - pathogenic (dominant) g.32890660del g.32316523del - - BRCA2_003219 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.67+58A>C r.(?) p.(=) - - benign g.32890722A>C g.32316585A>C - - BRCA2_003230 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0235 (South Asian), derived from 1000 genomes (2013-05-02). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.67+326G>C r.(?) p.(=) - - benign g.32890990G>C g.32316853G>C - - BRCA2_003960 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02642 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.67+641T>C r.(?) p.(=) - - benign g.32891305T>C g.32317168T>C - - BRCA2_003961 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.09441 (Asian), 0.01626 (African), 0.04749 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.67+719T>A r.(?) p.(=) - - benign g.32891383T>A g.32317246T>A - - BRCA2_003962 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0227 (African), derived from 1000 genomes (2013-05-02). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.67+788_67+791del r.(?) p.(=) - - benign g.32891452_32891455del g.32317315_32317318del - - BRCA2_003963 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.25 (Asian), 0.13 (African), 0.28 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.67+1042A>G r.(?) p.(=) - - benign g.32891706A>G g.32317569A>G - - BRCA2_003964 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.1853 (Asian), 0.1382 (African), 0.1794 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.67+1102T>C r.(?) p.(=) - - benign g.32891766T>C g.32317629T>C - - BRCA2_003965 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01423 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.67+1134T>C r.(?) p.(=) - - benign g.32891798T>C g.32317661T>C - - BRCA2_003966 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3864 (Asian), 0.1707 (African), 0.281 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.67+1224dup r.(?) p.(=) - - benign g.32891888dup g.32317751dup 67+1224dupT - BRCA2_003967 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.67+1266C>T r.(?) p.(=) - - benign g.32891930C>T g.32317793C>T - - BRCA2_003968 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.03049 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.68-997C>T r.(?) p.(=) - - benign g.32892217C>T g.32318080C>T - - BRCA2_003969 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.8902 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.68-973_68-971del r.(?) p.(=) - - benign g.32892241_32892243del g.32318104_32318106del - - BRCA2_003970 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.03 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.68-545C>T r.(?) p.(=) - - benign g.32892669C>T g.32318532C>T - - BRCA2_003971 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.03049 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.68-520G>T r.(?) p.(=) - - benign g.32892694G>T g.32318557G>T - - BRCA2_003972 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.09441 (Asian), 0.01626 (African), 0.04617 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.68-479T>C r.(?) p.(=) - - benign g.32892735T>C g.32318598T>C - - BRCA2_003973 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.7063 (Asian), 0.5183 (African), 0.7084 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.68-454A>C r.(?) p.(=) - - benign g.32892760A>C g.32318623A>C - - BRCA2_003974 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3846 (Asian), 0.1667 (African), 0.281 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.68-394T>C r.(?) p.(=) - - benign g.32892820T>C g.32318683T>C - - BRCA2_003975 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.09441 (Asian), 0.03252 (African), 0.04617 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.68-339G>A r.(?) p.(=) - - benign g.32892875G>A g.32318738G>A - - BRCA2_003976 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.04675 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 2i c.68-329G>A r.(?) p.(=) - - benign g.32892885G>A g.32318748G>A - - BRCA2_003977 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02642 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.71del r.(?) p.(Leu24*) - - pathogenic (dominant) g.32893217del g.32319080del - - BRCA2_003414 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.71T>G r.(?) p.(Leu24*) - - pathogenic (dominant) g.32893217T>G g.32319080T>G - - BRCA2_003978 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.71_96del r.(?) p.(Leu24*) - - pathogenic (dominant) g.32893217_32893242del g.32319080_32319105del - - BRCA2_003979 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.73G>T r.(?) p.(Gly25*) - - pathogenic (dominant) g.32893219G>T g.32319082G>T - - BRCA2_003980 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.86_87del r.(?) p.(Leu29Glnfs*4) - - pathogenic (dominant) g.32893232_32893233del g.32319095_32319096del - - BRCA2_003981 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.92G>A r.(?) p.(Trp31*) - - pathogenic (dominant) g.32893238G>A g.32319101G>A - - BRCA2_003377 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.93G>A r.(?) p.(Trp31*) - - pathogenic (dominant) g.32893239G>A g.32319102G>A - - BRCA2_003982 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.97G>T r.(?) p.(Glu33*) - - pathogenic (dominant) g.32893243G>T g.32319106G>T - - BRCA2_003983 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.100G>T r.(?) p.(Glu34*) - - pathogenic (dominant) g.32893246G>T g.32319109G>T - - BRCA2_001301 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.103dup r.(?) p.(Leu35Profs*9) - - pathogenic (dominant) g.32893249dup g.32319112dup 103dupC - BRCA2_003984 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.104_110del r.(?) p.(Leu35Glnfs*43) - - pathogenic (dominant) g.32893250_32893256del g.32319113_32319119del - - BRCA2_003985 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.106dup r.(?) p.(Ser36Phefs*8) - - pathogenic (dominant) g.32893252dup g.32319115dup - - BRCA2_003986 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.109_112del r.(?) p.(Ser37Lysfs*42) - - pathogenic (dominant) g.32893255_32893258del g.32319118_32319121del - - BRCA2_003987 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.110C>A r.(?) p.(Ser37*) - - pathogenic (dominant) g.32893256C>A g.32319119C>A - - BRCA2_003988 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.110C>G r.(?) p.(Ser37*) - - pathogenic (dominant) g.32893256C>G g.32319119C>G - - BRCA2_003381 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.115del r.(?) p.(Ala39Leufs*41) - - pathogenic (dominant) g.32893261del g.32319124del - - BRCA2_001302 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.120_123del r.(?) p.(Pro41Ilefs*38) - - pathogenic (dominant) g.32893266_32893269del g.32319129_32319132del - - BRCA2_001545 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 3 c.125A>G r.(?) p.(Tyr42Cys) - - benign g.32893271A>G g.32319134A>G - - BRCA2_000016 IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon 2008 (PMID:18951446). Class 1 based on posterior probability = 1.22E-18. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.04021 (Asian), 0.1016 (African), 0.04749 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.126T>A r.(?) p.(Tyr42*) - - pathogenic (dominant) g.32893272T>A g.32319135T>A - - BRCA2_003989 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.127_128del r.(?) p.(Asn43Phefs*2) - - pathogenic (dominant) g.32893273_32893274del g.32319136_32319137del - - BRCA2_003384 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.128del r.(?) p.(Asn43Ilefs*37) - - pathogenic (dominant) g.32893274del g.32319137del - - BRCA2_003990 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.144del r.(?) p.(Glu49Asnfs*31) - - pathogenic (dominant) g.32893290del g.32319153del - - BRCA2_003991 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.145G>T r.(?) p.(Glu49*) - - pathogenic (dominant) g.32893291G>T g.32319154G>T - - BRCA2_000017 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.151del r.(?) p.(Glu51Asnfs*29) - - pathogenic (dominant) g.32893297del g.32319160del - - BRCA2_003992 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.160_161del r.(?) p.(Asn54Glnfs*9) - - pathogenic (dominant) g.32893306_32893307del g.32319169_32319170del - - BRCA2_003736 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.161del r.(?) p.(Asn54Thrfs*26) - - pathogenic (dominant) g.32893307del g.32319170del - - BRCA2_003231 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 3 c.167A>C r.(?) p.(Asn56Thr) - - benign g.32893313A>C g.32319176A>C - - BRCA2_000018 IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon 2008 (PMID:18951446). Class 1 based on posterior probability = 0.00000306 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.170dup r.(?) p.(Tyr57*) - - pathogenic (dominant) g.32893316dup g.32319179dup 170dupA - BRCA2_003993 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.171C>G r.(?) p.(Tyr57*) - - pathogenic (dominant) g.32893317C>G g.32319180C>G - - BRCA2_001894 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.186del r.(?) p.(Phe62Leufs*18) - - pathogenic (dominant) g.32893332del g.32319195del - - BRCA2_003994 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.196C>T r.(?) p.(Gln66*) - - pathogenic (dominant) g.32893342C>T g.32319205C>T - - BRCA2_003236 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.201_202dup r.(?) p.(Lys68Argfs*13) - - pathogenic (dominant) g.32893347_32893348dup g.32319210_32319211dup - - BRCA2_003995 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.204del r.(?) p.(Lys68Asnfs*12) - - pathogenic (dominant) g.32893350del g.32319213del - - BRCA2_003996 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.204dup r.(?) p.(Pro69Thrfs*4) - - pathogenic (dominant) g.32893350dup g.32319213dup 204dupA - BRCA2_001920 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.212dup r.(?) p.(Tyr71*) - - pathogenic (dominant) g.32893358dup g.32319221dup 212dupA - BRCA2_003997 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.215delinsTT r.(?) p.(Asn72Ilefs*29) - - pathogenic (dominant) g.32893361delinsTT g.32319224delinsTT - - BRCA2_003737 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.217C>T r.(?) p.(Gln73*) - - pathogenic (dominant) g.32893363C>T g.32319226C>T - - BRCA2_003998 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 3 c.223G>C r.(?) p.(Ala75Pro) - - benign g.32893369G>C g.32319232G>C - - BRCA2_000020 IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon 2008 (PMID:18951446). Class 1 based on posterior probability = 0.00000000928 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.224_225insA r.(?) p.(Ser76Phefs*25) - - pathogenic (dominant) g.32893370_32893371insA g.32319233_32319234insA - - BRCA2_003999 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.227C>G r.(?) p.(Ser76*) - - pathogenic (dominant) g.32893373C>G g.32319236C>G - - BRCA2_004000 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- 3 c.231T>G r.(?) p.(=) - - benign g.32893377T>G g.32319240T>G - - BRCA2_000021 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0113 (African), derived from 1000 genomes (2013-05-02). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.244A>T r.(?) p.(Lys82*) - - pathogenic (dominant) g.32893390A>T g.32319253A>T - - BRCA2_003241 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.247G>T r.(?) p.(Glu83*) - - pathogenic (dominant) g.32893393G>T g.32319256G>T - - BRCA2_004001 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.248_249del r.(?) p.(Glu83Alafs*17) - - pathogenic (dominant) g.32893394_32893395del g.32319257_32319258del - - BRCA2_004002 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.250C>T r.(?) p.(Gln84*) - - pathogenic (dominant) g.32893396C>T g.32319259C>T - - BRCA2_003242 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.250del r.(?) p.(Gln84Lysfs*3) - - pathogenic (dominant) g.32893396del g.32319259del - - BRCA2_004003 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.262_263del r.(?) p.(Leu88Alafs*12) - - pathogenic (dominant) g.32893408_32893409del g.32319271_32319272del - - BRCA2_001291 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.263del r.(?) p.(Leu88Argfs*8) - - pathogenic (dominant) g.32893409del g.32319272del - - BRCA2_004004 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.266del r.(?) p.(Pro89Argfs*7) - - pathogenic (dominant) g.32893412del g.32319275del - - BRCA2_003244 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.271_272del r.(?) p.(Tyr91Profs*9) - - pathogenic (dominant) g.32893417_32893418del g.32319280_32319281del - - BRCA2_003246 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
+/+ 3 c.273C>A r.(?) p.(Tyr91*) - - pathogenic (dominant) g.32893419C>A g.32319282C>A - - BRCA2_001294 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
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