All transcript variants in gene BRCA2

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

73 entries on 1 page. Showing entries 1 - 73.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

ClassClinical     

Haplotype     

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     
+/. 5 c.475G>A r.spl p.? pathogenic FA FANCD1_00027 g.32900287G>A g.32326150G>A - - BRCA2_001868 4/23/08: classified as a variant with clinical significance by BIC, 2 entries. Skips exon 5 in the message with stop at codon 182. - - - Germline ? - - 0 - Arleen D. Auerbach
+/. 7i c.631+1G>A r.spl p.? pathogenic FA FANCD1_00010 g.32900751G>A g.32326614G>A - - BRCA2_002027 - PubMed: Wagner 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 7i c.631+1G>A r.spl p.? pathogenic FA FANCD1_00010 g.32900751G>A g.32326614G>A - - BRCA2_002027 - PubMed: Wagner 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 7i c.631+2T>G r.spl p.? pathogenic FA FANCD1_00002 g.32900752T>G g.32326615T>G - - BRCA2_000039 - PubMed: Wagner 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 7i c.631+2T>G r.spl p.? pathogenic FA FANCD1_00002 g.32900752T>G g.32326615T>G - - BRCA2_000039 - PubMed: Wagner 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 7i c.631+2T>G r.spl p.? pathogenic FA FANCD1_00002 g.32900752T>G g.32326615T>G - - BRCA2_000039 - PubMed: Wagner 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 7i c.631+2T>G r.spl p.? pathogenic FA FANCD1_00002 g.32900752T>G g.32326615T>G - - BRCA2_000039 - - - - Germline ? - - 0 - Arleen D. Auerbach
?/. 7i c.631+2T>G r.spl p.? VUS FA FANCD1_00002 g.32900752T>G g.32326615T>G - - BRCA2_000039 - PubMed: Wagner 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 7i c.631+2T>G r.spl p.? pathogenic FA FANCD1_00002 g.32900752T>G g.32326615T>G - - BRCA2_000039 - PubMed: Wagner 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 8 c.658_659del r.(?) p.(fs*) pathogenic FA FANCD1_00012 g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. 8 c.658_659del r.(?) p.(fs*) pathogenic FA FANCD1_00012 g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Hirsch 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 8 c.658_659del r.(?) p.(fs*) pathogenic FA FANCD1_00012 g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Hirsch 2004 - - Germline ? - - 0 - Arleen D. Auerbach
?/. 8 c.658_659del r.(?) p.(fs*) VUS FA FANCD1_00012 g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Offit 2003 - - Germline ? - - 0 - Arleen D. Auerbach
?/. 8 c.658_659del r.(?) p.(fs*) VUS FA FANCD1_00012 g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Offit 2003 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 8 c.658_659del r.(?) p.(fs*) pathogenic FA FANCD1_00012 g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Offit 2003 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 8 c.658_659del r.(?) p.(fs*) pathogenic FA FANCD1_00012 g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/+ 8 c.658_659del r.(?) p.(Val220Ilefs*4) pathogenic FA FANCD1_00012 g.32903606_32903607del g.32329469_32329470del g.18990_18991del - BRCA2_001175 - - - - Germline yes - - 0 - Eva Machackova
+/. 10 c.1311_1314del r.(?) p.(fs*) pathogenic FA FANCD1_00028 g.32906926_32906929del g.32332789_32332792del - - BRCA2_002033 4/23/08: no record in BIC PubMed: Ameziane 2007 - - Germline ? - - 0 - Johan de Winter
+/. 10 c.1311_1314del r.(?) p.(fs*) pathogenic FA FANCD1_00028 g.32906926_32906929del g.32332789_32332792del - - BRCA2_002033 4/23/08: no record in BIC PubMed: Ameziane 2007 - - Germline ? - - 0 - Johan de Winter
+/. 10 c.1813dup r.(?) p.(fs*) pathogenic FA FANCD1_00029 g.32907428dup g.32333291dup - - BRCA2_001802 4/23/08: classified as a variant with clinical significance by BIC, >50 entries PubMed: Wagner 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 10 c.1813dup r.(?) p.(fs*) pathogenic FA FANCD1_00029 g.32907428dup g.32333291dup - - BRCA2_001802 4/23/08: classified as a variant with clinical significance by BIC, >50 entries - - - Germline ? - - 0 - Arleen D. Auerbach
?/. 10 c.1813dup r.(?) p.(fs*) VUS FA FANCD1_00029 g.32907428dup g.32333291dup - - BRCA2_001802 4/23/08: classified as a variant with clinical significance by BIC, >50 entries PubMed: Wagner 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 11 c.2588dup r.(?) p.(fs*) pathogenic FA FANCD1_00015 g.32911080dup g.32336943dup - - BRCA2_002029 - PubMed: Wagner 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 11 c.2899_2900del r.(?) p.(fs*) pathogenic FA FANCD1_00030 g.32911391_32911392del g.32337254_32337255del - - BRCA2_002034 4/23/08: classified as a variant with clinical significance by BIC, 2 entries - - - Germline ? - - 0 - Arleen D. Auerbach
+/. 11 c.3264dup r.(?) p.(fs*) pathogenic FA FANCD1_00031 g.32911756_32911756dup g.32337619dup - - BRCA2_000667 4/23/08: classified as a variant with clinical significance by BIC, 18 entries - - - Germline ? - - 0 - Arleen D. Auerbach
?/. 11 c.3264dup r.(?) p.(fs*) VUS FA FANCD1_00031 g.32911756_32911756dup g.32337619dup - - BRCA2_000667 4/23/08: classified as a variant with clinical significance by BIC, 18 entries - - - Germline ? - - 0 - Arleen D. Auerbach
?/. 11 c.3264dup r.(?) p.(fs*) VUS FA FANCD1_00031 g.32911756dup g.32337619dup - - BRCA2_002035 4/23/08: classified as a variant with clinical significance by BIC, 18 entries - - - Germline ? - - 0 - Arleen D. Auerbach
+/+ 11 c.3599_3600del r.(?) p.(fs) pathogenic FA FANCD1_00040 g.32912091_32912092del g.32337954_32337955del - - BRCA2_001069 - PubMed: Meyer 2005 - - Unknown ? - - 0 - Arleen D. Auerbach
+/. 11 c.3865_3868del r.(?) p.(K1289Afs*2) pathogenic FA FANCD1_00039 g.32912357_32912360del g.32338220_32338223del - - BRCA2_001167 Patient sample not available; mutation identified from parental sample. Auerbach Lab - - Germline ? - - 0 - Arleen D. Auerbach
+/. 11 c.3922G>T r.(?) p.(E1308*) pathogenic FA FANCD1_00006 g.32912414G>T g.32338277G>T - - BRCA2_000106 - PubMed: Offit 2003 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 11 c.4472_4475del r.(?) p.(fs*) pathogenic FA FANCD1_00032 g.32912964_32912967del g.32338827_32338830del - - BRCA2_002036 4/23/08: classified as a variant with clinical significance by BIC, 2 entries - - - Germline ? - - 0 - Arleen D. Auerbach
+/. 11 c.4648G>T r.(?) p.(E1550*) pathogenic FA FANCD1_00017 g.32913140G>T g.32339003G>T - - BRCA2_002030 - PubMed: Hirsch 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 11 c.4648G>T r.(?) p.(E1550*) pathogenic FA FANCD1_00017 g.32913140G>T g.32339003G>T - - BRCA2_002030 - PubMed: Hirsch 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 11 c.4936_4939del r.(?) p.(fs*) pathogenic FA FANCD1_00013 g.32913428_32913431del g.32339291_32339294del - - BRCA2_001062 - PubMed: Wagner 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 11 c.4936_4939del r.(?) p.(fs*) pathogenic FA FANCD1_00013 g.32913428_32913431del g.32339291_32339294del - - BRCA2_001062 - PubMed: Wagner 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 11 c.5073dup r.(?) p.(fs*) pathogenic FA FANCD1_00007 g.32913565dup g.32339428dup - - BRCA2_001899 - PubMed: Offit 2003 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 11 c.5609_5610delinsAG r.(?) p.(F1870*) pathogenic FA FANCD1_00024 g.32914101_32914102delinsAG g.32339964_32339965delinsAG - - BRCA2_001645 - PubMed: Howlett 2002 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 11 c.5682C>G r.(?) p.(Y1894*) pathogenic FA FANCD1_00009 g.32914174C>G g.32340037C>G - - BRCA2_001092 - PubMed: Wagner 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 11 c.5682C>G r.(?) p.(Y1894*) pathogenic FA FANCD1_00009 g.32914174C>G g.32340037C>G - - BRCA2_001092 - PubMed: Wagner 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 11 c.5935_5936insT r.(?) p.(Ser1979Metfs*24) pathogenic FA FANCD1_00042 g.32914427_32914428insT g.32340290_32340291insT - - BRCA2_002042 - - - - Germline yes - - 0 - Arleen D. Auerbach
+/. 11 c.5946del r.(?) p.(fs*) pathogenic FA FANCD1_00014 g.32914438del g.32340301del - - BRCA2_000149 - PubMed: Offit 2003 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 11 c.5946del r.(?) p.(fs*) pathogenic FA FANCD1_00014 g.32914438del g.32340301del - - BRCA2_000149 - PubMed: Offit 2003 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 11 c.5946del r.(?) p.(fs*) pathogenic FA FANCD1_00014 g.32914438del g.32340301del - - BRCA2_000149 - PubMed: Offit 2003 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 11 c.5946del r.(?) p.(fs*) pathogenic FA FANCD1_00014 g.32914438del g.32340301del - - BRCA2_000149 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. 11 c.6275_6276del r.(?) p.(fs*) pathogenic FA FANCD1_00033 g.32914767_32914768del g.32340630_32340631del - - BRCA2_000156 4/23/08: classified as a variant with clinical significance by BIC, >50 entries - - - Germline ? - - 0 - Arleen D. Auerbach
?/. 11 c.6642_6643insC r.(?) p.(fs) VUS FA FANCD1_00043 g.32915134_32915135insC g.32340997_32340998insC - - BRCA2_002043 - - - - Unknown ? - - 0 - Arleen D. Auerbach
+/. 12 c.6873del r.(?) p.(fs*) pathogenic FA FANCD1_00034 g.32918726_32918726del g.32344589del - - BRCA2_002037 4/23/08: no record in BIC - - - Germline ? - - 0 - Arleen D. Auerbach
+/. 13 c.7007G>A r.spl p.? pathogenic FA FANCD1_00023 g.32921033G>A g.32346896G>A - - BRCA2_000175 - PubMed: Howlett 2002 - - Germline ? - - 0 - Arleen D. Auerbach
?/. 13 c.7007G>C r.spl? p.? VUS FA FANCD1_00035 g.32921033G>C g.32346896G>C - - BRCA2_002038 4/23/08: classified as a variant with clinical significance by BIC, 5 entries - - - Germline ? - - 0 - Arleen D. Auerbach
+/. 13 c.7007G>C r.spl? p.? pathogenic FA FANCD1_00035 g.32921033G>C g.32346896G>C - - BRCA2_002038 4/23/08: classified as a variant with clinical significance by BIC, 5 entries - - - Germline ? - - 0 - Arleen D. Auerbach
+/. 15 c.7463_7464insAT r.(?) p.(fs*) pathogenic FA FANCD1_00021 g.32930592_32930593ins g.32356455_32356456insAT - - BRCA2_002031 - PubMed: Howlett 2002 - - Germline ? - - 0 - Arleen D. Auerbach
?/. 15 c.7486_7487insT r.(?) p.(fs) VUS FA FANCD1_00041 g.32930615_32930616insT g.32356478_32356479insT - - BRCA2_002041 - - - - Unknown ? - - 0 - Arleen D. Auerbach
+/. 15 c.7529T>C r.(?) p.(L2510P) pathogenic FA FANCD1_00018 g.32930658T>C g.32356521T>C - - BRCA2_000205 - PubMed: Hirsch 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 15 c.7529T>C r.(?) p.(L2510P) pathogenic FA FANCD1_00018 g.32930658T>C g.32356521T>C - - BRCA2_000205 - PubMed: Hirsch 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 17 c.7878G>C r.(?) p.(W2626C) pathogenic FA FANCD1_00004 g.32936732G>C g.32362595G>C - - BRCA2_000238 4/23/08: classified as a variant of unknown significance by BIC, 11 entries PubMed: Wagner 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/- 18 c.8187G>T r.(?) p.(K2729N) pathogenic FA FANCD1_00025 g.32937526G>T g.32363389G>T - - BRCA2_000297 4/23/08: classified as a variant of unknown significance by BIC, 22 entries PubMed: Howlett 2002 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 18 c.8219T>A r.(?) p.(L2740*) pathogenic FA FANCD1_00011 g.32937558T>A g.32363421T>A - - BRCA2_002028 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. 18 c.8219T>A r.(?) p.(L2740*) pathogenic FA FANCD1_00011 g.32937558T>A g.32363421T>A - - BRCA2_002028 - PubMed: Hirsch 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 18 c.8219T>A r.(?) p.(L2740*) pathogenic FA FANCD1_00011 g.32937558T>A g.32363421T>A - - BRCA2_002028 - PubMed: Hirsch 2004 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 18 c.8243G>A r.(?) p.(G2748D) pathogenic FA FANCD1_00038 g.32937582G>A g.32363445G>A - - BRCA2_000301 Patient sample not available; mutation identified from parental sample. Deleterious per Farrugia DJ et al, 2008. Auerbach Lab - - Germline ? - - 0 - Arleen D. Auerbach
?/. 19i c.8487+3A>G r.spl? p.? VUS FA FANCD1_00036 g.32944697A>G g.32370560A>G - - BRCA2_002039 4/23/08: classified as a variant of unknown significance by BIC, 1 entry - - - Germline ? - - 0 - Arleen D. Auerbach
+/. 19i c.8487+3A>G r.spl? p.? pathogenic FA FANCD1_00036 g.32944697A>G g.32370560A>G - - BRCA2_002039 4/23/08: classified as a variant of unknown significance by BIC, 1 entry - - - Germline ? - - 0 - Arleen D. Auerbach
?/. 19i c.8487+3A>G r.spl? p.? VUS FA FANCD1_00036 g.32944697A>G g.32370560A>G - - BRCA2_002039 4/23/08: classified as a variant of unknown significance by BIC, 1 entry - - - Germline ? - - 0 - Arleen D. Auerbach
+/. 19i c.8488-1G>A r.8488_8491deltgga p.W2830_K2833del) pathogenic FA FANCD1_00020 g.32945092G>A g.32370955G>A - - BRCA2_001764 - PubMed: Howlett 2002 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 19i c.8488-1G>A r.8488_8491deltgga p.W2830_K2833del) pathogenic FA FANCD1_00020 g.32945092G>A g.32370955G>A - - BRCA2_001764 - PubMed: Howlett 2002 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 20 c.8504C>A r.(?) p.(S2835*) pathogenic FA FANCD1_00026 g.32945109C>A g.32370972C>A - - BRCA2_002032 - PubMed: Howlett 2002 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 24 c.9196C>T r.(?) p.(Q3066*) pathogenic FA FANCD1_00005 g.32954222C>T g.32380085C>T - - BRCA2_002025 - PubMed: Offit 2003 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 24 c.9207T>A r.(?) p.(C3069*) pathogenic FA FANCD1_00003 g.32954233T>A g.32380096T>A - - BRCA2_002026 - PubMed: Offit 2003 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 24 c.9207T>A r.(?) p.(C3069*) pathogenic FA FANCD1_00003 g.32954233T>A g.32380096T>A - - BRCA2_002026 - PubMed: Offit 2003 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 25 c.9366_9367del r.(?) p.(Ser3123Glnfs*26) pathogenic FA g.32968935_32968936del g.32394798_32394799del g.84319_84320del - BRCA2_003784 - - - - Germline yes - - 0 - Eva Machackova
?/. 27 c.9672dup r.(?) p.(fs*) VUS FA FANCD1_00022 g.32972322dup g.32398185dup - - BRCA2_001164 - PubMed: Howlett 2002 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 27 c.9672dup r.(?) p.(fs*) pathogenic FA FANCD1_00022 g.32972322dup g.32398185dup - - BRCA2_001164 - PubMed: Howlett 2002 - - Germline ? - - 0 - Arleen D. Auerbach
+/. 27 c.9674dup r.(?) p.(fs*) pathogenic FA FANCD1_00037 g.32972324dup g.32398187dup - - BRCA2_002040 unknown variant 2nd chromosome ;4/23/08: no record in BIC PubMed: Ameziane 2007 - - Germline ? - - 0 - Johan de Winter
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