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.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. 1 c.-26C>T r.(?) p.(=) - Unknown - likely benign g.56769979C>T g.58692618C>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 - likely benign g.56769979C>T g.58692618C>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 - likely benign g.56769979C>T g.58692618C>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 - likely benign g.56769979C>T g.58692618C>T - - RAD51C_000022 - - - rs12946397 Germline ? 31/101 controls - 0 - DNA PCR, SEQ, MLPA - - Healthy/Control - - - - - - (not applicable) - - 0 - - 101 Christine Rappaport
-/. - c.-26C>T r.(?) p.(=) - Unknown - benign g.56769979C>T g.58692618C>T RAD51C(NM_058216.2):c.-26C>T - RAD51C_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-26C>T r.(?) p.(=) - Unknown - benign g.56769979C>T - RAD51C(NM_058216.2):c.-26C>T - RAD51C_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6C>T r.(?) p.(=) - Unknown - likely benign g.56769999C>T g.58692638C>T - - TEX14_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-2C>G r.(?) p.(=) - Parent #1 - VUS g.56770003C>G g.58692642C>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 - VUS g.56770008C>G g.58692647C>G - - RAD51C_000036 - PubMed: Pang 2011 - - Unknown ? - - 0 - DNA PCR, SEQ - - cancer, breast - PubMed: Pang 2011 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.4C>T r.(?) p.(Arg2Cys) - Unknown - VUS g.56770008C>T g.58692647C>T RAD51C(NM_058216.1):c.4C>T (p.R2C) - TEX14_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.7G>A r.(?) p.(Gly3Arg) - Parent #1 - likely benign g.56770011G>A g.58692650G>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 - VUS g.56770013G>C g.58692652G>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
-?/. - c.37G>T r.(?) p.(Asp13Tyr) - Unknown - likely benign g.56770041G>T g.58692680G>T - - TEX14_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.68_72dup r.(?) p.(Val25Cysfs*3) - Unknown - pathogenic g.56770072_56770076dup g.58692711_58692715dup 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
?/. - c.73G>A r.(?) p.(Val25Met) - Unknown - VUS g.56770077G>A - - - TEX14_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.87T>C r.(?) p.(=) - Unknown - likely benign g.56770091T>C g.58692730T>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
-/. - c.90G>A r.(?) p.(Ala30=) - Unknown - benign g.56770094G>A g.58692733G>A RAD51C(NM_058216.2):c.90G>A (p.=) - TEX14_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.90G>A r.(?) p.(Ala30=) - Unknown - benign g.56770094G>A - RAD51C(NM_058216.2):c.90G>A (p.=) - TEX14_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.93del r.(?) p.fs - Parent #1 - pathogenic g.56770097del g.58692736del - - RAD51C_000048 - PubMed: Pelttari 2011 - - Unknown ? - - 0 - DNA PCR, SEQ - - cancer, ovarian - PubMed: Pelttari 2011 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.134A>G r.(?) p.(Glu45Gly) - Unknown ACMG VUS g.56770138A>G g.58692777A>G - - RAD51C_000071 ACMG grading: PM2 BC at age 46y, grandmother (ms) OC at age 44y, cousin (ms) OC at age 58y - - rs587781383 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
+/. 1i c.145+1G>T r.-11_145del p.0? - Parent #1 - pathogenic g.56770150G>T g.58692789G>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 - VUS g.56770161T>G g.58692800T>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
-?/. - c.145+12T>G r.(=) p.(=) - Unknown - likely benign g.56770161T>G g.58692800T>G RAD51C(NM_058216.2):c.145+12T>G - RAD51C_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.145+12T>G r.(=) p.(=) - Unknown - likely benign g.56770161T>G - RAD51C(NM_058216.2):c.145+12T>G - RAD51C_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.146-101T>C r.(=) p.(=) - Unknown - likely benign g.56772191T>C - RAD51C(NM_058216.2):c.146-101T>C - TEX14_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1i c.146-8A>G r.(=) p.(=) - Unknown - likely benign g.56772284A>G g.58694923A>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 r.(=) p.= - Unknown - NA g.56772284A>G g.58694923A>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 Global Variome, with Curator vacancy
-?/. 2 c.154A>C r.(?) p.(Ile52Leu) - Unknown - likely benign g.56772300A>C g.58694939A>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
?/. - c.180T>C r.(=) p.(=) - Unknown - VUS g.56772326T>C g.58694965T>C - - RAD51C_000067 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG - - cancer, breast, familial - - - - - - - - 0 - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+/. - c.181_182del r.(?) p.(Leu61Alafs*11) - Unknown ACMG pathogenic g.56772327_56772328del g.58694966_58694967del - - RAD51C_000064 ACMG grading: PM2,PVS1,PP5; reported in Pritchard 2016. N Engl J Med 375: 443 - - rs754525165 Germline - - - 0 - DNA SEQ-NG-S - - - - - - F - - - - 0 - - 1 Andreas Laner
?/. - c.193A>G r.(?) p.(Arg65Gly) - Unknown - VUS g.56772339A>G g.58694978A>G - - RAD51C_000073 Pelttari et al. 2011. Hum Mol Genet 20: 3278; Meindl et al. 2010. Nature Genet 42: 410; Loveday et al. 2012. Nature Genet 44: 475 - - - Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
-?/. 2 c.195A>G r.(?) p.(=) - Unknown - likely benign g.56772341A>G g.58694980A>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 - likely benign g.56772341A>G g.58694980A>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 r.(?) p.(Arg65=) - Unknown - benign g.56772341A>G g.58694980A>G RAD51C(NM_058216.1):c.195A>G (p.R65=) - RAD51C_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.195A>G r.(?) p.(Arg65=) - Unknown - likely benign g.56772341A>G g.58694980A>G RAD51C(NM_058216.1):c.195A>G (p.R65=) - RAD51C_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.195A>G r.(=) p.(=) - Parent #1 - likely benign g.56772341A>G g.58694980A>G - - RAD51C_000018 15 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs45511291 Germline - 15/2789 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 15 Mohammed Faruq
+/. 2 c.224dup r.(?) p.(Tyr75*) - Parent #1 - pathogenic g.56772370dup g.58695009dup 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.224dup r.(?) p.(Tyr75*) - Parent #1 - pathogenic g.56772370dup g.58695009dup - - 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.230del r.(?) p.(Gly77Valfs*24) - Unknown - pathogenic g.56772376del g.58695015del - - 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 - likely benign g.56772383T>G g.58695022T>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 r.(?) p.(=) - Parent #1 - likely benign g.56772383T>G g.58695022T>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 - likely benign g.56772383T>G g.58695022T>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 - VUS g.56772454_56772456del g.58695093_58695095del 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 - VUS g.56772487G>T g.58695126G>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 - pathogenic g.56772520G>T g.58695159G>T - - RAD51C_000068 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 - likely benign g.56772522G>A g.58695161G>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 - likely benign g.56772522G>A g.58695161G>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 - likely benign g.56772522G>A g.58695161G>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 - likely benign g.56772522G>A g.58695161G>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 - likely benign g.56772522G>A g.58695161G>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 - likely benign g.56772522G>A g.58695161G>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 - VUS g.56772522G>A g.58695161G>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 - VUS g.56772522G>A g.58695161G>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 - VUS g.56772522G>A g.58695161G>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 r.(?) p.(Ala126Thr) - Unknown - likely benign g.56772522G>A g.58695161G>A RAD51C(NM_058216.1):c.376G>A (p.A126T), RAD51C(NM_058216.2):c.376G>A (p.A126T) - RAD51C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.376G>A r.(?) p.(Ala126Thr) - Unknown - benign g.56772522G>A g.58695161G>A RAD51C(NM_058216.1):c.376G>A (p.A126T), RAD51C(NM_058216.2):c.376G>A (p.A126T) - RAD51C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.376G>A r.(?) p.(Ala126Thr) - Unknown - likely benign g.56772522G>A g.58695161G>A RAD51C(NM_058216.1):c.376G>A (p.A126T), RAD51C(NM_058216.2):c.376G>A (p.A126T) - RAD51C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.376G>A r.(?) p.(Ala126Thr) - Unknown - likely benign g.56772522G>A - RAD51C(NM_058216.1):c.376G>A (p.A126T), RAD51C(NM_058216.2):c.376G>A (p.A126T) - RAD51C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.397C>A r.(?) p.(Gln133Lys) - Unknown - VUS g.56772543C>A g.58695182C>A - - RAD51C_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.397C>T r.(?) p.(Gln133*) - Unknown - pathogenic g.56772543C>T g.58695182C>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 - pathogenic g.56774063G>C g.58696702G>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 r.(?) p.(Gln143Arg) - Unknown - NA g.56774077A>G g.58696716A>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 Global Variome, with Curator vacancy
+?/. 3 c.428A>G r.(?) p.(Gln143Arg) - Parent #1 - likely pathogenic g.56774077A>G g.58696716A>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
?/. - c.428A>G r.(?) p.(Gln143Arg) - Unknown - VUS g.56774077A>G g.58696716A>G - - RAD51C_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.431T>C r.(?) p.(Ile144Thr) - Unknown - VUS g.56774080T>C g.58696719T>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
?/. - c.431T>C r.(?) p.(Ile144Thr) - Unknown - VUS g.56774080T>C g.58696719T>C RAD51C(NM_058216.2):c.431T>C (p.I144T) - RAD51C_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.431T>C r.(?) p.(Ile144Thr) - Unknown - VUS g.56774080T>C - RAD51C(NM_058216.2):c.431T>C (p.I144T) - RAD51C_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.448G>A r.(?) p.(Gly150Arg) - Unknown - VUS g.56774097G>A g.58696736G>A - - TEX14_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.454G>A r.(?) p.(Ala152Thr) - Unknown - likely benign g.56774103G>A g.58696742G>A - - TEX14_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.458G>A r.(?) p.(Gly153Asp) - Parent #1 - pathogenic g.56774107G>A g.58696746G>A - - RAD51C_000034 - PubMed: Clague 2011 - - Unknown ? - - 0 - DNA PCR, SEQ - - BROVCA - PubMed: Clague 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.471del r.(?) p.(Phe157LeufsTer14) - Unknown - pathogenic g.56774120del g.58696759del RAD51C(NM_058216.1):c.471delT (p.F157Lfs*14) - TEX14_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3 c.475G>A r.(?) p.(Asp159Asn) - Parent #1 - likely benign g.56774124G>A g.58696763G>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 - VUS g.56774134G>A g.58696773G>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 - VUS g.56774134G>A g.58696773G>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
+/. - c.498del r.(?) p.(Asp167Ilefs*4) - Unknown - pathogenic g.56774147del g.58696786del - - RAD51C_000074 no second variant detected in BLM; Prokofyeva et al. 2013. Breast Cancer Res Treat 137: 533; Anisimenko et al. 2014. Breast Cancer Res Treat 148: 689; German et al. 2007. Hum Mutat 28: 743 - - rs746993675 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - M - Germany - - 0 - - 1 Andreas Laner
?/. - c.502A>T r.(?) p.(Arg168*) - Unknown - VUS g.56774151A>T g.58696790A>T - - RAD51C_000058 - PubMed: Lhota 2016 - - Germline - - - 0 - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - 0 - - 1 Zdenek Kleibl
?/. - c.502A>T r.(?) p.(Arg168*) - Unknown - VUS g.56774151A>T g.58696790A>T - - RAD51C_000058 - PubMed: Lhota 2016 - - Germline - - - 0 - DNA SEQ-NG-S blood 581 gene panel cancer, breast - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - 0 - - 1 Zdenek Kleibl
-?/. 3 c.506T>C r.(?) p.(Val169Ala) - Parent #1 - likely benign g.56774155T>C g.58696794T>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 - likely benign g.56774155T>C g.58696794T>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 - VUS g.56774155T>C g.58696794T>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 - VUS g.56774155T>C g.58696794T>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.506T>C r.(?) p.(Val169Ala) - Unknown - likely benign g.56774155T>C g.58696794T>C - - RAD51C_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.507G>A r.(?) p.(Val169=) - Unknown - likely benign g.56774156G>A g.58696795G>A - - TEX14_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.514C>T r.(?) p.(Leu172Phe) - Unknown - likely benign g.56774163C>T g.58696802C>T RAD51C(NM_058216.1):c.514C>T (p.L172F) - RAD51C_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.523G>A r.(?) p.(Ala175Thr) - Unknown - VUS g.56774172G>A g.58696811G>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.525dup r.(?) p.(Cys176Leufs*26) - Parent #1 - pathogenic g.56774174dup g.58696813dup - - 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 - VUS g.56774182A>C g.58696821A>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
?/. - c.535C>T r.(?) p.(His179Tyr) - Unknown - VUS g.56774184C>T g.58696823C>T - - TEX14_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.561_562del r.(?) p.(His187GlnfsTer15) - Unknown - pathogenic g.56774210_56774211del g.58696849_58696850del RAD51C(NM_058216.1):c.561_562delCA (p.H187Qfs*15) - TEX14_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.571+4A>G r.spl? p.? - Parent #1 - VUS g.56774224A>G g.58696863A>G - - RAD51C_000072 - - - rs587780257 Germline - - - 0 - DNA SEQ-NG-I - gene panel ATM, AXIN2, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MLH1, MRE11A, MSH2, MSH6, MUTYH, NF1, PALB2, PMS2, PTEN, RAD51, RAD51C, RAD51D, STK11, TP53 cancer, breast, familial P-51 - - F - Brazil - - 0 - - 1 CEGH-CEL
?/. 3i c.571+64C>A r.(spl?) p.(?) - Unknown - VUS g.56774284C>A g.58696923C>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 - likely benign g.56780540G>T g.58703179G>T - - RAD51C_000020 - - - 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 - likely benign g.56780540G>T g.58703179G>T - - RAD51C_000020 - - - 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 - likely benign g.56780540G>T g.58703179G>T - - RAD51C_000020 - - - 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 - likely benign g.56780540G>T g.58703179G>T - - RAD51C_000020 - - - 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 - VUS g.56780540G>T g.58703179G>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 - VUS g.56780540G>T g.58703179G>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 r.(=) p.(=) - Unknown - benign g.56780540G>T g.58703179G>T RAD51C(NM_058216.1):c.572-17G>T, RAD51C(NM_058216.2):c.572-17G>T - RAD51C_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.572-17G>T r.(=) p.(=) - Unknown - likely benign g.56780540G>T g.58703179G>T RAD51C(NM_058216.1):c.572-17G>T, RAD51C(NM_058216.2):c.572-17G>T - RAD51C_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.572-17G>T r.(=) p.(=) - Unknown - likely benign g.56780540G>T - RAD51C(NM_058216.1):c.572-17G>T, RAD51C(NM_058216.2):c.572-17G>T - RAD51C_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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