Full data view for gene XRCC4

Information The variants shown are described using the NM_022406.2 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
+/. 1i c.-10-1G>T r.-10_139del p.0? Parent #2 - pathogenic g.82400728G>T g.83104909G>T - - XRCC4_000006 - PubMed: Murray 2015, Journal: Murray 2015, OMIM:var0004 - rs869320678 Germline - - - - - DNA, RNA RT-PCR, SEQ - - DWFP 25728776-Fam5Pat5 PubMed: Murray 2015, Journal: Murray 2015 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 2 c.25del r.(?) p.(His9Thrfs*8) Unknown - likely pathogenic g.82400763del g.83104944del 25delC - XRCC4_000002 - - - - Germline - - - - - DNA SEQ-NG-S blood - cancer, breast - - - F no Czech Republic - - - - - 1 Zdenek Kleibl
+/. 2 c.25del r.(?) p.(His9Thrfs*8) Parent #1 - pathogenic g.82400763del g.83104944del 25delC - XRCC4_000002 - PubMed: Murray 2015, Journal: Murray 2015, OMIM:var0002 - rs869320677 Germline yes - - - - DNA SEQ - - DWFP 25728776-Fam3Pat3-1/2 PubMed: Murray 2015, Journal: Murray 2015 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents M - Italy - - - - - 2 Johan den Dunnen
+/. 1 c.25del r.(?) p.(His9Thrfs*8) Parent #1 - pathogenic g.82400763del g.83104944del 25delC - XRCC4_000002 - PubMed: Murray 2015, Journal: Murray 2015, OMIM:var0002 - - Germline - - - - - DNA SEQ - - DWFP 25728776-Fam4Pat4 PubMed: Murray 2015, Journal: Murray 2015 - M - France - - - - - 1 Johan den Dunnen
+/. 1 c.25del r.(?) p.(His9Thrfs*8) Parent #1 - pathogenic g.82400763del g.83104944del 25delC - XRCC4_000002 - PubMed: Murray 2015, Journal: Murray 2015, OMIM:var0002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - DWFP 25728776-Fam5Pat5 PubMed: Murray 2015, Journal: Murray 2015 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2 c.25del r.(?) p.(His9Thrfs*8) Paternal (confirmed) - pathogenic g.82400763del g.83104944del 25delC - XRCC4_000002 - PubMed: Rosin 2015, Journal: Rosin 2015, OMIM:var0002 - - Germline - - - - - DNA SEQ - - ? 25839420-Fam-02PatII2 PubMed: Rosin 2015, Journal: Rosin 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Switzerland - - - - - 1 Johan den Dunnen
+/. - c.25del r.(?) p.(His9ThrfsTer8) Unknown - pathogenic g.82400763del g.83104944del XRCC4(NM_001318012.1):c.25delC (p.H9Tfs*8), XRCC4(NM_003401.5):c.25del (p.(His9ThrfsTer8)), XRCC4(NM_022406.5):c.25delC (p.H9Tfs*8) - XRCC4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.25del r.(?) p.(His9Thrfs*8) Unknown - VUS g.82400763del g.83104944del 25delC - XRCC4_000002 - PubMed: Lhota 2016 - - Germline - - - - - 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 - - - - - 1 Zdenek Kleibl
+/. - c.25del r.(?) p.(His9ThrfsTer8) Unknown - pathogenic g.82400763del - XRCC4(NM_001318012.1):c.25delC (p.H9Tfs*8), XRCC4(NM_003401.5):c.25del (p.(His9ThrfsTer8)), XRCC4(NM_022406.5):c.25delC (p.H9Tfs*8) - XRCC4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.25del r.(?) p.(His9Thrfs*8) Unknown ACMG pathogenic (recessive) g.82400763del g.83104944del - - XRCC4_000002 - - 208515 - Germline - - - - - DNA SEQ-NG - - MINAS MINAS_35 - - F - Brazil - - - - - 1 Giovana Torrezan
+/. - c.25del r.(?) p.(His9Thrfs*8) Unknown ACMG pathogenic (recessive) g.82400763del g.83104944del - - XRCC4_000002 - - 208515 - Germline - - - - - DNA SEQ-NG - - MINAS MINAS_34 - - F - Brazil - - - - - 1 Giovana Torrezan
+/. - c.25del r.(?) p.(His9ThrfsTer8) Unknown - pathogenic g.82400763del - XRCC4(NM_001318012.1):c.25delC (p.H9Tfs*8), XRCC4(NM_003401.5):c.25del (p.(His9ThrfsTer8)), XRCC4(NM_022406.5):c.25delC (p.H9Tfs*8) - XRCC4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.63A>G r.(?) p.(=) Unknown - VUS g.82400801A>G - XRCC4(NM_003401.5):c.63A>G (p.(Gln21=)) - TMEM167A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.127T>C r.(?) p.(Trp43Arg) Both (homozygous) - likely pathogenic g.82400865T>C g.83105046T>C - - XRCC4_000001 - PubMed: Shaheen 2014, Journal: Shaheen 2014, OMIM:var0001 - rs587779351 Germline yes - - - - DNA SEQ-NG - - DWFP - PubMed: Shaheen 2014, Journal: Shaheen 2014 4-generation family, unaffected heterozygous carrier parents, deceased sister F yes Saudi Arabia Arab - - - - 4 Fowzan Alkuraya
+/. 2 c.127T>C r.(?) p.(Trp43Arg) Both (homozygous) - pathogenic g.82400865T>C g.83105046T>C - - XRCC4_000001 - PubMed: Murray 2015, Journal: Murray 2015, OMIM:var0001 - rs587779351 Germline - - - - - DNA SEQ, SEQ-NG - WES DWFP 25728776-PatP1 PubMed: Murray 2015, Journal: Murray 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Saudi Arabia - - - - - 1 Johan den Dunnen
?/. - c.166G>A r.(?) p.(Ala56Thr) Unknown - VUS g.82406873G>A g.83111054G>A XRCC4(NM_022550.3):c.166G>A (p.A56T) - XRCC4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.224T>C r.(?) p.(Leu75Ser) Unknown - VUS g.82406931T>C g.83111112T>C XRCC4(NM_001318012.1):c.224T>C (p.L75S) - XRCC4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.246T>G r.247_315del p.Val83_Ser105del Both (homozygous) - pathogenic g.82406953T>G g.83111134T>G - - XRCC4_000008 - PubMed: de Bruin 2015, Journal: de Bruin 2015, OMIM:var0007 - rs879255258 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - ? 25742519 PubMed: de Bruin 2015, Journal: de Bruin 2015 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - Chile - - - - - 2 Johan den Dunnen
+/. 4 c.481C>T r.(?) p.(Arg161*) Parent #1 - pathogenic g.82491754C>T g.83195935C>T - - XRCC4_000003 - PubMed: Murray 2015, Journal: Murray 2015, OMIM:var0006 - rs768825050 Germline - - - - - DNA SEQ - - DWFP 25728776-PatP2 PubMed: Murray 2015, Journal: Murray 2015 - M - Morocco - - - - - 1 Johan den Dunnen
?/. - c.481C>T r.(?) p.(Arg161*) Unknown - VUS g.82491754C>T - XRCC4(NM_003401.5):c.481C>T (p.(Arg161Ter)) - XRCC4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.482G>A r.[316_482del,140_482del,482g>a] p.[Phe106fs,Val47fs,Arg161Gln] Both (homozygous) - pathogenic g.82491755G>A g.83195936G>A - - XRCC4_000007 - PubMed: Rosin 2015, Journal: Rosin 2015, OMIM:var0008 - rs797045017 Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? 25839420-Fam-01PatIV1/2/3 PubMed: Rosin 2015, Journal: Rosin 2015 4-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - 3 Johan den Dunnen
?/. - c.535C>T r.(?) p.(Arg179Trp) Unknown - VUS g.82499423C>T g.83203604C>T XRCC4(NM_022550.3):c.535C>T (p.R179W) - TMEM167A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.613C>T r.(?) p.(Arg205*) Unknown - pathogenic g.82499501C>T - XRCC4(NM_022406.5):c.613C>T (p.R205*) - TMEM167A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.673C>T r.(?) p.(Arg225*) Parent #2 - pathogenic g.82500668C>T g.83204849C>T - - XRCC4_000004 - PubMed: Murray 2015, Journal: Murray 2015, OMIM:var0005 - rs779773463 Germline - - - - - DNA SEQ - - DWFP 25728776-PatP2 PubMed: Murray 2015, Journal: Murray 2015 - M - Morocco - - - - - 1 Johan den Dunnen
./. 6 c.673C>T r.(?) p.(Arg225*) Both (homozygous) - pathogenic g.82500668C>T g.83204849C>T - - XRCC4_000004 - PubMed: Bee 2015, Journal: Bee 2015, OMIM:var0005 - - Germline - - - - - DNA SEQ - WES ? 25872942-Fam PubMed: Bee 2015, Journal: Bee 2015 2-generation family, affected twin brothers, unaffected heterozygous carrier parents/sister M yes Italy - - - - - 2 Johan den Dunnen
+/. 6 c.673C>T r.(?) p.(Arg225*) Parent #1 - pathogenic g.82500668C>T g.83204849C>T C673T - XRCC4_000004 - PubMed: Guo 2015, Journal: Guo 2015 - - Germline - - - - - DNA SEQ - - ? 26255102-PatCSL16NG PubMed: Guo 2015, Journal: Guo 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Sweden - - - - - 1 Johan den Dunnen
?/. - c.745+3A>G r.spl? p.? Unknown - VUS g.82500743A>G - XRCC4(NM_003401.5):c.745+3A>G - TMEM167A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.760del r.(?) p.(Asp254Metfs*68) Parent #2 - pathogenic g.82554363del g.83258544del G760del - XRCC4_000009 - PubMed: Guo 2015, Journal: Guo 2015, OMIM:var0009 - - Germline - - - - - DNA SEQ - - ? 26255102-PatCSL16NG PubMed: Guo 2015, Journal: Guo 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Sweden - - - - - 1 Johan den Dunnen
+/. 7 c.823C>T r.(?) p.(Arg275*) Parent #2 - pathogenic g.82554426C>T g.83258607C>T - - XRCC4_000005 - PubMed: Murray 2015, Journal: Murray 2015, OMIM:var0003 - rs797045016 Germline yes - - - - DNA SEQ - - DWFP 25728776-Fam3Pat3-1/2 PubMed: Murray 2015, Journal: Murray 2015 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents M - Italy - - - - - 2 Johan den Dunnen
+/. 7 c.823C>T r.(?) p.(Arg275*) Parent #2 - pathogenic g.82554426C>T g.83258607C>T - - XRCC4_000005 - PubMed: Murray 2015, Journal: Murray 2015, OMIM:var0003 - - Germline - - - - - DNA SEQ - - DWFP 25728776-Fam4Pat4 PubMed: Murray 2015, Journal: Murray 2015 - M - France - - - - - 1 Johan den Dunnen
+/. 7 c.823C>T r.(?) p.(Arg275*) Maternal (confirmed) - pathogenic g.82554426C>T g.83258607C>T - - XRCC4_000005 - PubMed: Rosin 2015, Journal: Rosin 2015 - - Germline - - - - - DNA SEQ - - ? 25839420-Fam-02PatII2 PubMed: Rosin 2015, Journal: Rosin 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Switzerland - - - - - 1 Johan den Dunnen
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