Full data view for gene RAD51C

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

115 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. 1 c.-26C>T - r.(?) p.(=) - Unknown g.56769979C>T - - - RAD51C_000022 - - - rs12946397 Germline ? 321/907 cases - 0 - DNA PCR, SEQ, MLPA - - BROVCA - - study subjects from breast/ovarian high risk families - - - (not applicable) - - 0 - - 907 Christine Rappaport
-?/. 1 c.-26C>T - r.(?) p.(=) - Unknown g.56769979C>T - - - RAD51C_000022 - - - rs12946397 Germline ? 47/159 BRCA1 carriers - 0 - DNA PCR, SEQ, MLPA - - ? - - - - - - (not applicable) - - 0 - - 159 Christine Rappaport
-?/. 1 c.-26C>T - r.(?) p.(=) - Unknown g.56769979C>T - - - RAD51C_000022 - - - rs12946397 Germline ? 12/76 BRCA2 carriers - 0 - DNA PCR, SEQ, MLPA - - ? - - - - - - (not applicable) - - 0 - - 76 Christine Rappaport
-?/. 1 c.-26C>T - r.(?) p.(=) - Unknown g.56769979C>T - - - RAD51C_000022 - - - rs12946397 Germline ? 31/101 controls - 0 - DNA PCR, SEQ, MLPA - - Healthy/Control - - - - - - (not applicable) - - 0 - - 101 Christine Rappaport
?/. 1 c.-2C>G - r.(?) p.(=) - Parent #1 g.56770003C>G - - - RAD51C_000023 not in 159 BRCA1/76 BRCA2 carriers or 101 controls - - - Germline ? 1/907 cases - 0 - DNA PCR, SEQ, MLPA - - cancer, breast - - - F no Austria - - 0 - - 1 Christine Rappaport
?/. 1 c.4C>G - r.(?) p.(Arg2Gly) - Parent #1 g.56770008C>G - - - RAD51C_000036 - PubMed: Pang 2011 - - Unknown ? - - 0 - DNA PCR, SEQ - - cancer, breast - PubMed: Pang 2011 - - - - - - 0 - - 1 Johan den Dunnen
-?/. 1 c.7G>A - r.(?) p.(Gly3Arg) - Parent #1 g.56770011G>A - - - RAD51C_000044 normal complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 1/480 cases - 0 - DNA PCR, SEQ - - BROVCA - PubMed: Meindl 2010 - - - - - - 0 - - 3 Johan den Dunnen
?/. 1 c.9G>C - r.(?) p.(=) - Parent #1 g.56770013G>C - - - RAD51C_000049 not in 159 BRCA1/76 BRCA2 carriers or 101 controls - - - Germline ? 1/907 cases - 0 - DNA PCR, SEQ, MLPA - - Healthy/Control - - from a breast/ovarian cancer high-risk family F no Austria - - 0 - - 1 Christine Rappaport
+/. 1 c.68_72dup - r.(?) p.(Val25Cysfs*3) - Unknown g.56770072_56770076dup - c.72_73insTGCGG - RAD51C_000002 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Germline yes 1/21 cases - 0 - DNA SEQ - - cancer, ovarian - PubMed: Thompson 2012, Journal: Thompson 2012 4-generation family, 5 affecteds F - Australia - - 0 - - 5 Ian Campbell
-?/. 1 c.87T>C - r.(?) p.(=) - Unknown g.56770091T>C - S29S - RAD51C_000017 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Germline ? 1/190 controls - 0 - DNA SEQ - - Healthy/Control - PubMed: Thompson 2012, Journal: Thompson 2012 normal control - - Australia - - 0 - - 1 Ian Campbell
+/. 1 c.93delG - r.(?) p.fs - Parent #1 g.56770097delG - - - RAD51C_000048 - PubMed: Pelttari 2011 - - Unknown ? - - 0 - DNA PCR, SEQ - - cancer, ovarian - PubMed: Pelttari 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1i c.145+1G>T - r.-11_145del p.0? - Parent #1 g.56770150G>T - - - RAD51C_000027 not in 2912 controls; altered splicing PubMed: Meindl 2010 - - Unknown ? 1/480 cases - 0 - DNA, RNA PCR, RT-PCR, SEQ - - BROVCA - PubMed: Meindl 2010 - - - - - - 0 - - 1 Johan den Dunnen
?/. 1i c.145+12T>G - r.(=) p.(=) - Unknown g.56770161T>G - - - RAD51C_000026 not in 159 BRCA1/76 BRCA2 carriers or 101 controls - - rs377297129 Germline ? 4/907 cases - 0 - DNA PCR, SEQ, MLPA - - BROVCA - - study subjects from breast/ovarian high risk families - - - (not applicable) - - 0 - - 907 Christine Rappaport
-?/. 1i c.146-8A>G - r.(=) p.(=) - Unknown g.56772284A>G - - - RAD51C_000028 not in 159 BRCA1/76 BRCA2 carriers or 101 controls - - rs201079501 Germline ? 2/907 cases - 0 - DNA PCR, SEQ, MLPA - - BROVCA - - study subjects from breast/ovarian high risk families - - - (not applicable) - - 0 - - 907 Christine Rappaport
-?/. 1i c.146-8A>G - - p.= - Unknown g.56772284A>G - - - RAD51C_000028 DNA from FFPE tumor tissue: no abnormal promotor methylation detected; RNA/cDNA: no abnormalities - - - In vitro (cloned) ? - - 0 - DNA, RNA MET, RT-PCR, SEQ - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-?/. 2 c.154A>C - r.(?) p.(Ile52Leu) - Unknown g.56772300A>C - - - RAD51C_000005 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Germline ? 1/427 controls - 0 - DNA SEQ - - Healthy/Control - PubMed: Thompson 2012, Journal: Thompson 2012 normal control - - Australia - - 0 - - 1 Ian Campbell
-?/. 2 c.195A>G - r.(?) p.(=) - Unknown g.56772341A>G - R65R - RAD51C_000018 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - rs45511291 Unknown ? 2/1053 cases - 0 - DNA SEQ - - cancer, breast - PubMed: Thompson 2012, Journal: Thompson 2012 - F - Australia - - 0 - - 1 Ian Campbell
-?/. 2 c.195A>G - r.(?) p.(=) - Unknown g.56772341A>G - R65R - RAD51C_000018 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - rs45511291 Unknown ? 1/314 cases - 0 - DNA SEQ - - BROVCA - PubMed: Thompson 2012, Journal: Thompson 2012 - - - Australia - - 0 - - 1 Ian Campbell
-/. - c.195A>G benign r.(=) p.(=) - Unknown g.56772341A>G - RAD51C:c.195A>G (R65=) - RAD51C_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.224dupA - r.(?) p.(Tyr75*) - Parent #1 g.56772370_56772371insA - c.224_225insA - RAD51C_000029 not in 159 BRCA1/76 BRCA2 carriers - - - Germline ? 1/907 cases - 0 - DNA PCR, SEQ, MLPA - - Healthy/Control - - from a breast/ovarian cancer high-risk family F no Austria - - 0 - - 1 Christine Rappaport
+/. 2 c.224dupA - r.(?) p.(Tyr75*) - Parent #1 g.56772370dup - - - RAD51C_000029 not in 2912 controls PubMed: Meindl 2010 - - Unknown ? 1/480 cases - 0 - DNA PCR, SEQ - - BROVCA - PubMed: Meindl 2010 - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.230delG - r.(?) p.(Gly77Valfs*24) - Unknown g.56772376delG - - - RAD51C_000003 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 1/267 cases - 0 - DNA SEQ - - cancer, ovarian - PubMed: Thompson 2012, Journal: Thompson 2012 - F - Australia - - 0 - - 1 Ian Campbell
-?/. 2 c.237T>G - r.(?) p.(=) - Parent #1 g.56772383T>G - - - RAD51C_000030 - - - - Germline ? 1/101 controls - 0 - DNA PCR, SEQ, MLPA - - Healthy/Control - - control; no personal or familial history of breast or ovarian cancer F no Austria - - 0 - - 1 Christine Rappaport
-?/. 2 c.237T>G - - p.= - Unknown g.56772383T>G - - - RAD51C_000030 DNA from FFPE tumor tissue: no LOH, no abnormal promotor methylation detected - - - In vitro (cloned) ? - - 0 - DNA MET, SEQ - - GSD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-?/. 2 c.237T>G - r.(?) p.(=) - Parent #1 g.56772383T>G - - - RAD51C_000030 - - - - Germline ? 1/907 cases - 0 - DNA PCR, SEQ, MLPA - - cancer, breast - - - F no Austria - - 0 - - 1 Christine Rappaport
-?/. 2 c.237T>G - r.(?) p.(=) - Parent #1 g.56772383T>G - - - RAD51C_000030 not in 159 BRCA1/76 BRCA2 carriers - - - Germline ? 1/907 cases - 0 - DNA PCR, SEQ, MLPA - - Healthy/Control - - - F no Austria - - 0 - - 1 Christine Rappaport
?/. 2 c.308_310del - r.(?) p.(Phe103del) - Unknown g.56772454_56772456del - 308_310delTCT - RAD51C_000006 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 1/1053 cases - 0 - DNA SEQ - - cancer, breast - PubMed: Thompson 2012, Journal: Thompson 2012 - F - Australia - - 0 - - 1 Ian Campbell
?/. 2 c.341G>T - r.(?) p.(Gly114Val) - Unknown g.56772487G>T - - - RAD51C_000007 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 1/267 cases - 0 - DNA SEQ - - cancer, ovarian - PubMed: Thompson 2012, Journal: Thompson 2012 - F - Australia - - 0 - - 1 Ian Campbell
+/. 2 c.374G>T - r.(?) p.(Gly125Val) - Parent #1 g.56772520G>T - - - RAD51C_000007 not in 2912 controls; no complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 1/480 cases - 0 - DNA PCR, SEQ - - BROVCA - PubMed: Meindl 2010 - - - - - - 0 - - 3 Johan den Dunnen
-?/. 2 c.376G>A - r.(?) p.(Ala126Thr) - Unknown g.56772522G>A - - - RAD51C_000008 not in 101 controls - - rs61758784 Germline ? 11/907 cases - 0 - DNA PCR, SEQ, MLPA - - BROVCA - - study subjects from breast/ovarian high risk families - - - (not applicable) - - 0 - - 907 Christine Rappaport
-?/. 2 c.376G>A - r.(?) p.(Ala126Thr) - Unknown g.56772522G>A - - - RAD51C_000008 not in 101 controls - - rs61758784 Germline ? 2/159 BRCA1 carriers - 0 - DNA PCR, SEQ, MLPA - - ? - - - - - - (not applicable) - - 0 - - 159 Christine Rappaport
-?/. 2 c.376G>A - r.(?) p.(Ala126Thr) - Unknown g.56772522G>A - - - RAD51C_000008 not in 101 controls - - rs61758784 Germline ? 2/76 BRCA2 carriers - 0 - DNA PCR, SEQ, MLPA - - ? - - - - - - (not applicable) - - 0 - - 76 Christine Rappaport
-?/. 2 c.376G>A - r.(?) p.(Ala126Thr) - Parent #1 g.56772522G>A - - - RAD51C_000008 normal complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 13/620 cases - 0 - DNA PCR, SEQ - - cancer, breast - PubMed: Meindl 2010 - - - - - - 0 - - 3 Johan den Dunnen
-?/. 2 c.376G>A - r.(?) p.(Ala126Thr) - Parent #1 g.56772522G>A - - - RAD51C_000008 normal complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 3/480 cases - 0 - DNA PCR, SEQ - - BROVCA - PubMed: Meindl 2010 - - - - - - 0 - - 3 Johan den Dunnen
-?/. 2 c.376G>A - r.(?) p.(Ala126Thr) - Parent #1 g.56772522G>A - - - RAD51C_000008 normal complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 8/2912 controls - 0 - DNA PCR, SEQ - - Healthy/Control - PubMed: Meindl 2010 normal control - - Germany - - 0 - - 16 Johan den Dunnen
?/. 2 c.376G>A - r.(?) p.(Ala126Thr) - Unknown g.56772522G>A - - - RAD51C_000008 - PubMed: Thompson 2012, Journal: Thompson 2012 - rs61758784 Unknown ? 15/1053 cases - 0 - DNA SEQ - - cancer, breast - PubMed: Thompson 2012, Journal: Thompson 2012 - F - Australia - - 0 - - 1 Ian Campbell
?/. 2 c.376G>A - r.(?) p.(Ala126Thr) - Unknown g.56772522G>A - - - RAD51C_000008 - PubMed: Thompson 2012, Journal: Thompson 2012 - rs61758784 Unknown ? 5/267 cases - 0 - DNA SEQ - - cancer, ovarian - PubMed: Thompson 2012, Journal: Thompson 2012 - F - Australia - - 0 - - 1 Ian Campbell
?/. 2 c.376G>A - r.(?) p.(Ala126Thr) - Unknown g.56772522G>A - - - RAD51C_000008 - PubMed: Thompson 2012, Journal: Thompson 2012 - rs61758784 Germline ? 3/427 controls - 0 - DNA SEQ - - Healthy/Control - PubMed: Thompson 2012, Journal: Thompson 2012 normal control - - Australia - - 0 - - 1 Ian Campbell
-?/. - c.376G>A likely benign r.(?) p.(Ala126Thr) - Unknown g.56772522G>A - RAD51C:c.376G>A (A126T) - RAD51C_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.376G>A benign r.(?) p.(Ala126Thr) - Unknown g.56772522G>A - RAD51C:c.376G>A (A126T) - RAD51C_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.376G>A likely benign r.(?) p.(Ala126Thr) - Unknown g.56772522G>A - RAD51C - RAD51C_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.397C>A VUS r.(?) p.(Gln133Lys) - Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.397C>T - r.(?) p.(Gln133*) - Unknown g.56772543C>T - - - RAD51C_000004 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Germline yes 1/314 cases - 0 - DNA SEQ - - BROVCA - PubMed: Thompson 2012, Journal: Thompson 2012 4-generation family, 6 affecteds F - Australia - - 0 - - 6 Ian Campbell
+/. 3 c.414G>C - r.(?) p.(Leu138Phe) - Parent #1 g.56774063G>C - - - RAD51C_000031 not in 2912 controls; reduced complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 1/480 cases - 0 - DNA PCR, SEQ - - BROVCA - PubMed: Meindl 2010 - - - - - - 0 - - 1 Johan den Dunnen
+?/. 3 c.428A>G - - p.(Gln143Arg) - Unknown g.56774077A>G - - - RAD51C_000032 DNA from FFPE tumor tissue: no LOH, no abnormal promotor methylation detected - - - In vitro (cloned) ? - - 0 - DNA MET, SEQ - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/. 3 c.428A>G - r.(?) p.(Gln143Arg) - Parent #1 g.56774077A>G - - - RAD51C_000032 not in 159 BRCA1/76 BRCA2 carriers or 101 controls - - - Germline ? 1/907 cases - 0 - DNA PCR, SEQ, MLPA - - cancer, breast - - - F no Austria - - 0 - - 1 Christine Rappaport
?/. 3 c.431T>C - r.(?) p.(Ile144Thr) - Unknown g.56774080T>C - - - RAD51C_000033 not in 159 BRCA1/76 BRCA2 carriers or 101 controls - - rs28363307 Germline ? 1/907 cases - 0 - DNA PCR, SEQ, MLPA - - BROVCA - - study subjects from breast/ovarian high risk families - - - (not applicable) - - 0 - - 907 Christine Rappaport
+/. 3 c.458G>A - r.(?) p.(Gly153Asp) - Parent #1 g.56774107G>A - - - RAD51C_000034 - PubMed: Clague 2011 - - Unknown ? - - 0 - DNA PCR, SEQ - - BROVCA - PubMed: Clague 2011 - - - - - - 0 - - 1 Johan den Dunnen
-?/. 3 c.475G>A - r.(?) p.(Asp159Asn) - Parent #1 g.56774124G>A - - - RAD51C_000035 not in 2912 controls; partial complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 1/620 cases - 0 - DNA PCR, SEQ - - cancer, breast - PubMed: Meindl 2010 - - - - - - 0 - - 1 Johan den Dunnen
?/. 3 c.485G>A - r.(?) p.(Gly162Glu) - Unknown g.56774134G>A - - - RAD51C_000009 not in 190 controls PubMed: Thompson 2012, Journal: Thompson 2012 - rs35151472 Unknown ? 3/1053 cases - 0 - DNA SEQ - - cancer, breast - PubMed: Thompson 2012, Journal: Thompson 2012 - F - Australia - - 0 - - 1 Ian Campbell
?/. 3 c.485G>A - r.(?) p.(Gly162Glu) - Unknown g.56774134G>A - - - RAD51C_000009 not in 190 controls PubMed: Thompson 2012, Journal: Thompson 2012 - rs35151472 Unknown ? 1/314 cases - 0 - DNA SEQ - - BROVCA - PubMed: Thompson 2012, Journal: Thompson 2012 - - - Australia - - 0 - - 1 Ian Campbell
-?/. 3 c.506T>C - r.(?) p.(Val169Ala) - Parent #1 g.56774155T>C - - - RAD51C_000010 not in 907 BOC cases, 76 BRCA2 carriers or 101 controls - - - Germline ? 1/159 BRCA1 carriers - 0 - DNA PCR, SEQ, MLPA - - Healthy/Control - - from a breast/ovarian cancer high-risk family; BRCA1 mutation carrier (control group) F no Austria - - 0 - - 1 Christine Rappaport
-?/. 3 c.506T>C - r.(?) p.(Val169Ala) - Parent #1 g.56774155T>C - - - RAD51C_000010 normal complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 1/620 cases - 0 - DNA PCR, SEQ - - cancer, breast - PubMed: Meindl 2010 - - - - - - 0 - - 3 Johan den Dunnen
?/. 3 c.506T>C - r.(?) p.(Val169Ala) - Unknown g.56774155T>C - - - RAD51C_000010 not in 190 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 1/1053 cases - 0 - DNA SEQ - - cancer, breast - PubMed: Thompson 2012, Journal: Thompson 2012 - F - Australia - - 0 - - 1 Ian Campbell
?/. 3 c.506T>C - r.(?) p.(Val169Ala) - Unknown g.56774155T>C - - - RAD51C_000010 not in 190 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 1/267 cases - 0 - DNA SEQ - - cancer, ovarian - PubMed: Thompson 2012, Journal: Thompson 2012 - F - Australia - - 0 - - 1 Ian Campbell
-?/. - c.514C>T likely benign r.(?) p.(Leu172Phe) - Unknown g.56774163C>T - RAD51C:c.514C>T (L172F) - RAD51C_000051 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.523G>A - r.(?) p.(Ala175Thr) - Unknown g.56774172G>A - - - RAD51C_000011 not in 190 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 1/1053 cases - 0 - DNA SEQ - - cancer, breast - PubMed: Thompson 2012, Journal: Thompson 2012 - F - Australia - - 0 - - 1 Ian Campbell
+/. 3 c.525dupC - r.(?) p.(Cys176Leufs*26) - Parent #1 g.56774174dup - - - RAD51C_000037 not in 2912 controls PubMed: Meindl 2010 - - Unknown ? 1/480 cases - 0 - DNA PCR, SEQ - - BROVCA - PubMed: Meindl 2010 - - - - - - 0 - - 1 Johan den Dunnen
?/. 3 c.533A>C - r.(?) p.(Gln178Pro) - Unknown g.56774182A>C - - - RAD51C_000012 not in 190 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 1/314 cases - 0 - DNA SEQ - - BROVCA - PubMed: Thompson 2012, Journal: Thompson 2012 - - - Australia - - 0 - - 1 Ian Campbell
?/. 3i c.571+64C>A - r.(spl?) p.(?) - Unknown g.56774284C>A - - - RAD51C_000019 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 2/267 cases - 0 - DNA SEQ - - cancer, ovarian - PubMed: Thompson 2012, Journal: Thompson 2012 - F - Australia - - 0 - - 1 Ian Campbell
-?/. 3i c.572-17G>T - r.(=) p.(=) - Unknown g.56780540G>T - - - RAD51C_000038 - - - rs193023469 Germline ? 11/907 cases - 0 - DNA PCR, SEQ, MLPA - - BROVCA - - study subjects from breast/ovarian high risk families - - - (not applicable) - - 0 - - 907 Christine Rappaport
-?/. 3i c.572-17G>T - r.(=) p.(=) - Unknown g.56780540G>T - - - RAD51C_000038 - - - rs193023469 Germline ? 2/159 BRCA1 carriers - 0 - DNA PCR, SEQ, MLPA - - ? - - - - - - (not applicable) - - 0 - - 159 Christine Rappaport
-?/. 3i c.572-17G>T - r.(=) p.(=) - Unknown g.56780540G>T - - - RAD51C_000038 - - - rs193023469 Germline ? 2/76 BRCA2 carriers - 0 - DNA PCR, SEQ, MLPA - - ? - - - - - - (not applicable) - - 0 - - 76 Christine Rappaport
-?/. 3i c.572-17G>T - r.(=) p.(=) - Unknown g.56780540G>T - - - RAD51C_000038 - - - rs193023469 Germline ? 1/101 controls - 0 - DNA PCR, SEQ, MLPA - - Healthy/Control - - - - - - (not applicable) - - 0 - - 101 Christine Rappaport
?/. 3i c.572-17G>T - r.(spl?) p.(?) - Unknown g.56780540G>T - - - RAD51C_000020 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 2/1053 cases - 0 - DNA SEQ - - cancer, breast - PubMed: Thompson 2012, Journal: Thompson 2012 - F - Australia - - 0 - - 1 Ian Campbell
?/. 3i c.572-17G>T - r.(spl?) p.(?) - Unknown g.56780540G>T - - - RAD51C_000020 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Germline ? 1/190 controls - 0 - DNA SEQ - - Healthy/Control - PubMed: Thompson 2012, Journal: Thompson 2012 normal control - - Australia - - 0 - - 1 Ian Campbell
-/. - c.572-17G>T benign r.(=) p.(=) - Unknown g.56780540G>T - RAD51C:c.572-17G>T - RAD51C_000020 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 4i c.644A>G - r.(?) p.(Asp215Gly) - Parent #1 g.56780629A>G - - - RAD51C_000039 - PubMed: Pang 2011 - - Unknown ? - - 0 - DNA PCR, SEQ - - cancer, breast - PubMed: Pang 2011 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.666A>G - r.(=) p.(=) - Parent #1 g.56780651A>G - - - RAD51C_000050 - - - rs114012742 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+?/. 4i c.706-2A>G - r.spl p.? - Parent #1 g.56787218A>G - - - RAD51C_000040 - PubMed: Walsh 2011 - - Unknown ? - - 0 - DNA PCR, SEQ - - cancer, peritoneal - PubMed: Walsh 2011 - - - - - - 0 - - 1 Johan den Dunnen
?/. 5 c.745C>T - r.(?) p.(Arg249Cys) - Unknown g.56787259C>T - - - RAD51C_000013 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - rs28363311 Unknown ? 1/1053 cases - 0 - DNA SEQ - - cancer, breast - PubMed: Thompson 2012, Journal: Thompson 2012 - F - Australia - - 0 - - 1 Ian Campbell
+/. 5 c.773G>A - r.(?) p.(Agr258His) FA Paternal (confirmed) g.56787287G>A - - - RAD51C_000001 - PubMed: Vaz 2010, OMIM:var0001 - - Germline ? - - 0 - DNA SEQ - - FANCO - - - M ? Pakistan - - 0 - - 1 Arleen D. Auerbach
+/. 5 c.773G>A - r.(?) p.(Agr258His) FA Paternal (confirmed) g.56787287G>A - - - RAD51C_000001 - PubMed: Vaz 2010, OMIM:var0001 - - Germline ? - - 0 - DNA SEQ - - FANCO - - Sister of IV-5 F ? Pakistan - - 0 - - 1 Arleen D. Auerbach
+/. 5 c.773G>A - r.(?) p.(Agr258His) FA Parent #1 g.56787287G>A - - - RAD51C_000001 - PubMed: Vaz 2010, OMIM:var0001 - - Germline ? - - 0 - DNA SEQ - - Healthy/Control - - unaffected mother of IV-3 & IV-5 M ? Pakistan - - 0 - - 1 Arleen D. Auerbach
+/. 5 c.773G>A - r.(?) p.(Agr258His) FA Parent #1 g.56787287G>A - - - RAD51C_000001 - PubMed: Vaz 2010, OMIM:var0001 - - Germline ? - - 0 - DNA SEQ - - Healthy/Control - - unaffected father of IV-3 & IV-6 F ? Pakistan - - 0 - - 1 Arleen D. Auerbach
+/. 5 c.773G>A - r.(?) p.(Agr258His) FA Maternal (confirmed) g.56787287G>A - - - RAD51C_000001 - PubMed: Vaz 2010, OMIM:var0001 - - Germline ? - - 0 - DNA SEQ - - FANCO - - - M ? Pakistan - - 0 - - 1 Arleen D. Auerbach
+/. 5 c.773G>A - r.(?) p.(Agr258His) FA Maternal (confirmed) g.56787287G>A - - - RAD51C_000001 - PubMed: Vaz 2010, OMIM:var0001 - - Germline ? - - 0 - DNA SEQ - - FANCO - - Sister of IV-5 F ? Pakistan - - 0 - - 1 Arleen D. Auerbach
+/. 5 c.774delT - r.(?) p.fs - Parent #1 g.56787288delT - - - RAD51C_000041 - PubMed: Romero 2011 - - Unknown ? - - 0 - DNA PCR, SEQ - - BROVCA - PubMed: Romero 2011 - - - - - - 0 - - 1 Johan den Dunnen
-?/. 5 c.783A>G - r.(?) p.(=) - Unknown g.56787297A>G - - - RAD51C_000042 not in 907 BOC cases, 76 BRCA2 carriers or 101 controls - - rs138643096 Germline ? 1/159 BRCA1 carriers - 0 - DNA PCR, SEQ, MLPA - - ? - - - - - - (not applicable) - - 0 - - 159 Christine Rappaport
?/. 5 c.784T>G - r.(?) p.(Leu262Val) - Unknown g.56787298T>G - - - RAD51C_000014 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 1/1053 cases - 0 - DNA SEQ - - cancer, breast - PubMed: Thompson 2012, Journal: Thompson 2012 - F - Australia - - 0 - - 1 Ian Campbell
?/. 5 c.784T>G - r.(?) p.(Leu262Val) - Unknown g.56787298T>G - - - RAD51C_000014 not in 427 controls PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 1/267 cases - 0 - DNA SEQ - - cancer, ovarian - PubMed: Thompson 2012, Journal: Thompson 2012 - F - Australia - - 0 - - 1 Ian Campbell
?/. 5 c.790G>A - r.(?) p.(Gly264Ser) - Unknown g.56787304G>A - - - RAD51C_000015 not in 76 BRCA2 carriers or 101 controls - - rs147241704 Germline ? 4/907 cases - 0 - DNA PCR, SEQ, MLPA - - BROVCA - - study subjects from breast/ovarian high risk families - - - (not applicable) - - 0 - - 907 Christine Rappaport
?/. 5 c.790G>A - r.(?) p.(Gly264Ser) - Unknown g.56787304G>A - - - RAD51C_000015 not in 76 BRCA2 carriers or 101 controls - - rs147241704 Germline ? 1/159 BRCA1 carriers - 0 - DNA PCR, SEQ, MLPA - - ? - - - - - - (not applicable) - - 0 - - 159 Christine Rappaport
?/. 5 c.790G>A - - p.(Gly264Ser) - Unknown g.56787304G>A - - - RAD51C_000015 DNA from FFPE tumor tissue: no LOH, no abnormal promotor methylation detected - - - In vitro (cloned) ? - - 0 - DNA MET, SEQ - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-?/. 5 c.790G>A - r.(?) p.(Gly264Ser) - Parent #1 g.56787304G>A - - - RAD51C_000015 partial complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 3/620 cases - 0 - DNA PCR, SEQ - - cancer, breast - PubMed: Meindl 2010 - - - - - - 0 - - 3 Johan den Dunnen
-?/. 5 c.790G>A - r.(?) p.(Gly264Ser) - Parent #1 g.56787304G>A - - - RAD51C_000015 partial complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 9/480 cases - 0 - DNA PCR, SEQ - - BROVCA - PubMed: Meindl 2010 - - - - - - 0 - - 3 Johan den Dunnen
-?/. 5 c.790G>A - r.(?) p.(Gly264Ser) - Parent #1 g.56787304G>A - - - RAD51C_000015 partial complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 16/2912 controls - 0 - DNA PCR, SEQ - - Healthy/Control - PubMed: Meindl 2010 normal control - - Germany - - 0 - - 16 Johan den Dunnen
?/. 5 c.790G>A - r.(?) p.(Gly264Ser) - Unknown g.56787304G>A - - - RAD51C_000015 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 8/1053 cases - 0 - DNA SEQ - - cancer, breast - PubMed: Thompson 2012, Journal: Thompson 2012 - F - Australia - - 0 - - 1 Ian Campbell
?/. 5 c.790G>A - r.(?) p.(Gly264Ser) - Unknown g.56787304G>A - - - RAD51C_000015 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 2/314 cases - 0 - DNA SEQ - - BROVCA - PubMed: Thompson 2012, Journal: Thompson 2012 - - - Australia - - 0 - - 1 Ian Campbell
?/. 5 c.790G>A - r.(?) p.(Gly264Ser) - Unknown g.56787304G>A - - - RAD51C_000015 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Unknown ? 8/267 cases - 0 - DNA SEQ - - cancer, ovarian - PubMed: Thompson 2012, Journal: Thompson 2012 - F - Australia - - 0 - - 1 Ian Campbell
?/. 5 c.790G>A - r.(?) p.(Gly264Ser) - Unknown g.56787304G>A - - - RAD51C_000015 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Germline ? 1/427 controls - 0 - DNA SEQ - - Healthy/Control - PubMed: Thompson 2012, Journal: Thompson 2012 normal control - - Australia - - 0 - - 1 Ian Campbell
?/. 5 c.790G>A - r.(?) p.(Gly264Ser) - Unknown g.56787304G>A - - - RAD51C_000015 - PubMed: Thompson 2012, Journal: Thompson 2012 - - Germline ? 1/427 controls - 0 - DNA SEQ - - Healthy/Control - PubMed: Thompson 2012, Journal: Thompson 2012 normal control - - Australia - - 0 - - 1 Ian Campbell
-?/. - c.790G>A likely benign r.(?) p.(Gly264Ser) - Unknown g.56787304G>A - RAD51C:c.790G>A (G264S) - RAD51C_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.790G>A likely benign r.(?) p.(Gly264Ser) - Unknown g.56787304G>A - RAD51C:c.790G>A (G264S) - RAD51C_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 5 c.791G>T - r.(?) p.(Gly264Val) - Parent #1 g.56787305G>T - - - RAD51C_000043 normal complementation RAD51C mutated cells PubMed: Meindl 2010 - - Unknown ? 1/620 cases - 0 - DNA PCR, SEQ - - cancer, breast - PubMed: Meindl 2010 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.837+1del pathogenic r.spl? p.? - Unknown g.56787352del - RAD51C:c.837+1delG - RAD51C_000052 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5i c.837+1G>A - r.spl p.? - Parent #1 g.56787352G>A - - - RAD51C_000045 - PubMed: Pelttari 2011 - - Unknown ? - - 0 - DNA PCR, SEQ - - cancer, ovarian - PubMed: Pelttari 2011 - - - - - - 0 - - 1 Johan den Dunnen
-?/. 6 c.859A>G - r.(?) p.(Thr287Ala) - Unknown g.56798128A>G - - - RAD51C_000016 not in 101 controls - - rs28363317 Germline ? 15/907 cases - 0 - DNA PCR, SEQ, MLPA - - BROVCA - - study subjects from breast/ovarian high risk families - - - (not applicable) - - 0 - - 907 Christine Rappaport
-?/. 6 c.859A>G - r.(?) p.(Thr287Ala) - Unknown g.56798128A>G - - - RAD51C_000016 not in 101 controls - - rs28363317 Germline ? 5/159 BRCA1 carriers - 0 - DNA PCR, SEQ, MLPA - - ? - - - - - - (not applicable) - - 0 - - 159 Christine Rappaport
-?/. 6 c.859A>G - r.(?) p.(Thr287Ala) - Unknown g.56798128A>G - - - RAD51C_000016 not in 101 controls - - rs28363317 Germline ? 1/76 BRCA2 carriers - 0 - DNA PCR, SEQ, MLPA - - ? - - - - - - (not applicable) - - 0 - - 76 Christine Rappaport
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