Unique variants in gene RAD51C

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_058216.1 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-?/. 4 1 c.-26C>T - r.(?) p.(=) - g.56769979C>T - - - RAD51C_000022 - - - rs12946397 Germline ? 321/907 cases, 47/159 BRCA1 carriers, 12/76 BRCA2 carriers, 31/101 controls - - - Christine Rappaport
?/. 1 1 c.-2C>G - r.(?) p.(=) - g.56770003C>G - - - RAD51C_000023 not in 159 BRCA1/76 BRCA2 carriers or 101 controls - - - Germline ? 1/907 cases - - - Christine Rappaport
?/. 1 1 c.4C>G - r.(?) p.(Arg2Gly) - g.56770008C>G - - - RAD51C_000036 - PubMed: Pang 2011 - - Unknown ? - - - - Johan den Dunnen
-?/. 1 1 c.7G>A - r.(?) p.(Gly3Arg) - g.56770011G>A - - - RAD51C_000044 normal complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 1/480 cases - - - Johan den Dunnen
?/. 1 1 c.9G>C - r.(?) p.(=) - g.56770013G>C - - - RAD51C_000049 not in 159 BRCA1/76 BRCA2 carriers or 101 controls - - - Germline ? 1/907 cases - - - Christine Rappaport
+/. 1 1 c.68_72dup - r.(?) p.(Val25Cysfs*3) - g.56770072_56770076dup - c.72_73insTGCGG - RAD51C_000002 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Germline yes 1/21 cases - - - Ian Campbell
-?/. 1 1 c.87T>C - r.(?) p.(=) - g.56770091T>C - S29S - RAD51C_000017 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Germline ? 1/190 controls - - - Ian Campbell
+/. 1 1 c.93delG - r.(?) p.fs - g.56770097delG - - - RAD51C_000048 - PubMed: Pelttari 2011 - - Unknown ? - - - - Johan den Dunnen
+/. 1 1i c.145+1G>T - r.-11_145del p.0? - g.56770150G>T - - - RAD51C_000027 not in 2912 controls; altered splicing PubMed: Meindl 2010 - - Unknown ? 1/480 cases - - - Johan den Dunnen
?/. 1 1i c.145+12T>G - r.(=) p.(=) - g.56770161T>G - - - RAD51C_000026 not in 159 BRCA1/76 BRCA2 carriers or 101 controls - - rs377297129 Germline ? 4/907 cases - - - Christine Rappaport
-?/. 2 1i c.146-8A>G - r.(=), - p.(=), p.= - g.56772284A>G - - - RAD51C_000028 not in 159 BRCA1/76 BRCA2 carriers or 101 controls, 1 more item - - rs201079501 Germline, In vitro (cloned) ? 2/907 cases - - - Christine Rappaport
-?/. 1 2 c.154A>C - r.(?) p.(Ile52Leu) - g.56772300A>C - - - RAD51C_000005 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Germline ? 1/427 controls - - - Ian Campbell
-?/., -/. 3 2 c.195A>G benign r.(?), r.(=) p.(=) - g.56772341A>G - R65R, RAD51C:c.195A>G (R65=) - RAD51C_000018 not in 427 controls, VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Thompson 2012, Journal: Thompson 2012 - rs45511291 Unknown, CLASSIFICATION record ? 2/1053 cases, 1/314 cases - - - Ian Campbell, VKGL-NL_Rotterdam
+/. 2 2 c.224dupA - r.(?) p.(Tyr75*) - g.56772370_56772371insA, g.56772370dup - c.224_225insA - RAD51C_000029 not in 159 BRCA1/76 BRCA2 carriers, not in 2912 controls PubMed: Meindl 2010 - - Germline, Unknown ? 1/907 cases, 1/480 cases - - - Christine Rappaport, Johan den Dunnen
+/. 1 2 c.230delG - r.(?) p.(Gly77Valfs*24) - g.56772376delG - - - RAD51C_000003 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 1/267 cases - - - Ian Campbell
-?/. 3 2 c.237T>G - r.(?) p.(=) - g.56772383T>G - - - RAD51C_000030 not in 159 BRCA1/76 BRCA2 carriers - - - Germline ? 1/101 controls, 1/907 cases - - - Christine Rappaport
?/. 1 2 c.308_310del - r.(?) p.(Phe103del) - g.56772454_56772456del - 308_310delTCT - RAD51C_000006 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 1/1053 cases - - - Ian Campbell
?/. 1 2 c.341G>T - r.(?) p.(Gly114Val) - g.56772487G>T - - - RAD51C_000007 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 1/267 cases - - - Ian Campbell
+/. 1 2 c.374G>T - r.(?) p.(Gly125Val) - g.56772520G>T - - - RAD51C_000007 not in 2912 controls; no complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 1/480 cases - - - Johan den Dunnen
-?/., ?/., -/. 12 2 c.376G>A likely benign, benign r.(?) p.(Ala126Thr) - g.56772522G>A - RAD51C, RAD51C:c.376G>A (A126T) - RAD51C_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked, not in 101 controls, 1 more item PubMed: Meindl 2010, PubMed: Thompson 2012, Journal: Thompson 2012 - rs61758784 CLASSIFICATION record, Germline, Unknown ? 11/907 cases, 2/159 BRCA1 carriers, 2/76 BRCA2 carriers, 13/620 cases, 3/480 cases, 8/2912 controls, 3 more items - - - VKGL-NL_Nijmegen, Christine Rappaport, VKGL-NL_Groningen, Johan den Dunnen, Ian Campbell, VKGL-NL_VUmc
?/. 1 - c.397C>A VUS r.(?) p.(Gln133Lys) - g.56772543C>A - RAD51C:NM_058216.1(RAD51C):c.397C>A (Gln133Lys) - RAD51C_000054 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 2 c.397C>T - r.(?) p.(Gln133*) - g.56772543C>T - - - RAD51C_000004 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Germline yes 1/314 cases - - - Ian Campbell
+/. 1 3 c.414G>C - r.(?) p.(Leu138Phe) - g.56774063G>C - - - RAD51C_000031 not in 2912 controls; reduced complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 1/480 cases - - - Johan den Dunnen
+?/. 2 3 c.428A>G - -, r.(?) p.(Gln143Arg) - g.56774077A>G - - - RAD51C_000032 DNA from FFPE tumor tissue: no LOH, no abnormal promotor methylation detected, 1 more item - - - In vitro (cloned), Germline ? 1/907 cases - - - Christine Rappaport
?/. 1 3 c.431T>C - r.(?) p.(Ile144Thr) - g.56774080T>C - - - RAD51C_000033 not in 159 BRCA1/76 BRCA2 carriers or 101 controls - - rs28363307 Germline ? 1/907 cases - - - Christine Rappaport
+/. 1 3 c.458G>A - r.(?) p.(Gly153Asp) - g.56774107G>A - - - RAD51C_000034 - PubMed: Clague 2011 - - Unknown ? - - - - Johan den Dunnen
-?/. 1 3 c.475G>A - r.(?) p.(Asp159Asn) - g.56774124G>A - - - RAD51C_000035 not in 2912 controls; partial complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 1/620 cases - - - Johan den Dunnen
?/. 2 3 c.485G>A - r.(?) p.(Gly162Glu) - g.56774134G>A - - - RAD51C_000009 not in 190 controls PubMed: Thompson 2012, Journal: Thompson 2012 - rs35151472 Unknown ? 3/1053 cases, 1/314 cases - - - Ian Campbell
-?/., ?/. 4 3 c.506T>C - r.(?) p.(Val169Ala) - g.56774155T>C - - - RAD51C_000010 not in 907 BOC cases, 76 BRCA2 carriers or 101 controls, normal complementation RAD51C mutated cells, 1 more item PubMed: Meindl 2010, PubMed: Thompson 2012, Journal: Thompson 2012 - - Germline, Unknown ? 1/159 BRCA1 carriers, 1/620 cases, 1/1053 cases, 1/267 cases - - - Christine Rappaport, Johan den Dunnen, Ian Campbell
-?/. 1 - c.514C>T likely benign r.(?) p.(Leu172Phe) - g.56774163C>T - RAD51C:c.514C>T (L172F) - RAD51C_000051 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 3 c.523G>A - r.(?) p.(Ala175Thr) - g.56774172G>A - - - RAD51C_000011 not in 190 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 1/1053 cases - - - Ian Campbell
+/. 1 3 c.525dupC - r.(?) p.(Cys176Leufs*26) - g.56774174dup - - - RAD51C_000037 not in 2912 controls PubMed: Meindl 2010 - - Unknown ? 1/480 cases - - - Johan den Dunnen
?/. 1 3 c.533A>C - r.(?) p.(Gln178Pro) - g.56774182A>C - - - RAD51C_000012 not in 190 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 1/314 cases - - - Ian Campbell
?/. 1 3i c.571+64C>A - r.(spl?) p.(?) - g.56774284C>A - - - RAD51C_000019 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 2/267 cases - - - Ian Campbell
-?/., ?/., -/. 7 3i c.572-17G>T benign r.(=), r.(spl?) p.(=), p.(?) - g.56780540G>T - RAD51C:c.572-17G>T - RAD51C_000038, RAD51C_000020 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Thompson 2012, Journal: Thompson 2012 - rs193023469 Germline, Unknown, CLASSIFICATION record ? 11/907 cases, 2/159 BRCA1 carriers, 2/76 BRCA2 carriers, 1/101 controls, 2/1053 cases, 1/190 controls - - - Christine Rappaport, Ian Campbell, VKGL-NL_VUmc
?/. 1 4i c.644A>G - r.(?) p.(Asp215Gly) - g.56780629A>G - - - RAD51C_000039 - PubMed: Pang 2011 - - Unknown ? - - - - Johan den Dunnen
?/. 1 - c.666A>G - r.(=) p.(=) - g.56780651A>G - - - RAD51C_000050 - - - rs114012742 Germline - - - - - Andreas Laner
+?/. 1 4i c.706-2A>G - r.spl p.? - g.56787218A>G - - - RAD51C_000040 - PubMed: Walsh 2011 - - Unknown ? - - - - Johan den Dunnen
?/. 1 5 c.745C>T - r.(?) p.(Arg249Cys) - g.56787259C>T - - - RAD51C_000013 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - rs28363311 Unknown ? 1/1053 cases - - - Ian Campbell
+/. 6 5 c.773G>A - r.(?) p.(Agr258His) FA g.56787287G>A - - - RAD51C_000001 - PubMed: Vaz 2010, OMIM:var0001 - - Germline ? - - - - Arleen D. Auerbach
+/. 1 5 c.774delT - r.(?) p.fs - g.56787288delT - - - RAD51C_000041 - PubMed: Romero 2011 - - Unknown ? - - - - Johan den Dunnen
-?/. 1 5 c.783A>G - r.(?) p.(=) - g.56787297A>G - - - RAD51C_000042 not in 907 BOC cases, 76 BRCA2 carriers or 101 controls - - rs138643096 Germline ? 1/159 BRCA1 carriers - - - Christine Rappaport
?/. 2 5 c.784T>G - r.(?) p.(Leu262Val) - g.56787298T>G - - - RAD51C_000014 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 1/1053 cases, 1/267 cases - - - Ian Campbell
-?/., ?/. 13 5 c.790G>A likely benign r.(?), - p.(Gly264Ser) - g.56787304G>A - RAD51C:c.790G>A (G264S) - RAD51C_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked, 3 more items PubMed: Meindl 2010, PubMed: Thompson 2012, Journal: Thompson 2012 - rs147241704 CLASSIFICATION record, Germline, In vitro (cloned), Unknown ? 4/907 cases, 1/159 BRCA1 carriers, 3/620 cases, 9/480 cases, 16/2912 controls, 8/1053 cases, 3 more items - - - VKGL-NL_Rotterdam, Christine Rappaport, Johan den Dunnen, Ian Campbell, VKGL-NL_VUmc
-?/. 1 5 c.791G>T - r.(?) p.(Gly264Val) - g.56787305G>T - - - RAD51C_000043 normal complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 1/620 cases - - - Johan den Dunnen
+/. 1 - c.837+1del pathogenic r.spl? p.? - g.56787352del - RAD51C:c.837+1delG - RAD51C_000052 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 5i c.837+1G>A - r.spl p.? - g.56787352G>A - - - RAD51C_000045 - PubMed: Pelttari 2011 - - Unknown ? - - - - Johan den Dunnen
-?/., -/., ?/. 10 6 c.859A>G benign r.(?) p.(Thr287Ala) - g.56798128A>G - RAD51C:c.859A>G (T287A) - RAD51C_000016 not in 101 controls, VKGL data sharing initiative Nederland; correct HGVS to be checked, 2 more items PubMed: Meindl 2010, PubMed: Thompson 2012, Journal: Thompson 2012 - rs28363317 Germline, CLASSIFICATION record, Unknown ? 15/907 cases, 5/159 BRCA1 carriers, 1/76 BRCA2 carriers, 12/620 cases, 3/480 cases, 35/2912 controls, 3 more items - - - Christine Rappaport, VKGL-NL_VUmc, Johan den Dunnen, Ian Campbell
+/. 1 6i c.904+5G>T - r.838_904del p.Val236_Ala279 - g.56798178G>T - - - RAD51C_000046 not in 2912 controls PubMed: Meindl 2010 - - Unknown ? 1/480 cases - - - Johan den Dunnen
+/. 2 6i c.905-2delA - -, r.905_965del p.Gly303Trpfs*41 - g.56801399delA - - - RAD51C_000047 not in 159 BRCA1/76 BRCA2 carriers or 101 controls; skipping of exon 7 - - - In vitro (cloned), Germline ? 1/907 cases - - - Christine Rappaport
+?/. 1 7i_8i c.(965+1_966-1)_(1026+1_1027-1)del - r.? p.? - g.(56801462_56809844)_(56809906_56811478)del - del ex8 - RAD51C_000055 - PubMed: Leedom 2016 - - Germline - 1/2134 cases BRCA - - - Johan den Dunnen
?/. 1 8i c.1026+23G>A - r.(spl?) p.(?) - g.56809928G>A - - - RAD51C_000021 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Germline ? 2/190 controls - - - Ian Campbell
-?/. 1 9 c.1097G>A - r.(?) p.(Arg366Gln) - g.56811549G>A - - - RAD51C_000025 not in 2912 controls; partial complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 1/480 cases - - - Johan den Dunnen
?/. 1 - c.1108C>T VUS r.(?) p.(Arg370*) - g.56811560C>T - RAD51C:c.1108C>T (R370*) - RAD51C_000053 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 9 c.*25C>G - r.(?) p.(=) - g.56811608C>G - - - RAD51C_000024 not in 159 BRCA1/76 BRCA2 carriers or 101 controls - - rs28363336 Germline ? 1/907 cases - - - Christine Rappaport
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