All variants in the ERCC8 gene

Information The variants shown are described using the NM_000082.3 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. - c.-307C>T r.(?) p.(=) - benign g.60241142G>A g.60945315G>A NDUFAF2(NM_174889.5):c.60G>A (p.K20=) - ERCC8_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.37G>T r.(?) p.(Glu13*) ACMG likely pathogenic g.60240799C>A g.60944972C>A - - ERCC8_000028 Cao et al. 2004. J 49: 61 - - rs121434324 Germline - - - - - Andreas Laner
+/. 1 c.37G>T r.(?) p.(Glu13*) ACMG pathogenic (recessive) g.60240799C>A - - - ERCC8_000028 - - - - Germline yes - - - - Wenjuan Qiu
?/. 2i c.173+3_173+6del r.spl p.? - VUS g.60224688_60224691del g.60928861_60928864del - - ERCC8_000032 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+?/. 4 c.295_297delinsTG r.(?) p.(Arg99Cysfs*26) - likely pathogenic g.60214194_60214196delinsCA g.60918367_60918369delinsCA - - ERCC8_000012 - PubMed: Rump 2016 - - Germline yes 1/38 patients - - - Birgit Sikkema-Raddatz
+?/. 5 c.295_297delinsTG r.(?) p.(Arg99Cysfs*26) - likely pathogenic g.60214194_60214196delinsCA g.60918367_60918369delinsCA ERCC8 c.295_297delinsTG, p.R99Sfs*26 - ERCC8_000012 error in annotation, Arg is actually changed to Cys and not Ser in the first nucleotide; homozygous PubMed: Rump 2016 - - Germline yes - - - - LOVD
+/. - c.295_297delinsTG r.(?) p.(Arg99CysfsTer26) - pathogenic (recessive) g.60214194_60214196delinsCA g.60918367_60918369delinsCA - - ERCC8_000012 - PubMed: Duerinckx 2020, PubMed: Duerinckx 2021 - - Germline - - - - - Johan den Dunnen
+/. - c.313_314del r.(?) p.(Val105ThrfsTer6) - pathogenic g.60214178_60214179del g.60918351_60918352del ERCC8(NM_001007233.3):c.139_140delGT (p.V47Tfs*6) - ERCC8_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.316C>T r.(?) p.(Gln106Ter) - pathogenic g.60214175G>A g.60918348G>A ERCC8(NM_000082.3):c.316C>T (p.Q106*) - ERCC8_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.317_320dup r.(?) p.(Trp107Ter) - pathogenic g.60214171_60214174dup - ERCC8(NM_001007233.3):c.143_146dupAGTG (p.W49*) - ERCC8_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.363T>C r.(?) p.(Asp121=) - likely benign g.60214128A>G g.60918301A>G ERCC8(NM_000082.4):c.363T>C (p.D121=) - ERCC8_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.382G>A r.(?) p.(Asp128Asn) - VUS g.60214109C>T - ERCC8(NM_000082.4):c.382G>A (p.(Asp128Asn)) - ERCC8_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 4 c.394_398del r.(?) p.(Leu132Asnfs*6) ACMG pathogenic (recessive) g.60214097_60214101del g.60918270_60918274del - - ERCC8_000030 - - - - Germline yes - - - - Wenjuan Qiu
+/. - c.394_398del r.(394_398del) p.(Leu132Asnfs*6) - pathogenic (recessive) g.60214097_60214101del g.60918270_60918274del - - ERCC8_000030 - - - - Germline - - - - - Min Peng
+?/. - c.400-5091_400-5089del r.(?) p.(?) - likely pathogenic g.60205799_60205801del - - - ERCC8_000033 - - - rs768280897 CLASSIFICATION record - - - - - MobiDetails
+?/. - c.427del r.(?) p.(Thr143Glnfs*17) ACMG likely pathogenic (recessive) g.60200673del g.60904846del - - ERCC8_000029 ACMG PVS1,PM2 PubMed: Anazi 2017 - - Germline - - - - - Johan den Dunnen
-/. - c.435T>C r.(?) p.(Tyr145=) - benign g.60200665A>G g.60904838A>G ERCC8(NM_000082.3):c.435T>C (p.Y145=) - ERCC8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. ? c.478G>A r.(?) p.(Ala160Thr) - pathogenic g.60200622C>T g.60904795C>T - - ERCC8_000002 submitted through SIB; ExPASy_063507 PubMed: Laugel et al (2010) - - Germline - - - - - SIB - Livia Famiglietti
+/. ? c.479C>T r.(?) p.(Ala160Val) - pathogenic g.60200621G>A g.60904794G>A - - ERCC8_000006 submitted through SIB; ExPASy_025380 PubMed: Ridley et al (2005) - - Germline - - - - - SIB - Livia Famiglietti
-?/. - c.550+22C>T r.(=) p.(=) - likely benign g.60199453G>A - ERCC8(NM_001007234.3):c.572C>T (p.(Thr191Met)) - ERCC8_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. ? c.582G>C r.(?) p.(Trp194Cys) - pathogenic g.60198304C>G g.60902477C>G - - ERCC8_000003 submitted through SIB; ExPASy_063508 PubMed: Laugel et al (2010) - - Germline - - - - - SIB - Livia Famiglietti
+/. ? c.605T>C r.(?) p.(Leu202Ser) - pathogenic g.60198281A>G g.60902454A>G - - ERCC8_000004 submitted through SIB; ExPASy_063509 PubMed: Laugel et al (2010) - - Germline - - - - - SIB - Livia Famiglietti
+/. ? c.613G>C r.(?) p.(Ala205Pro) - pathogenic g.60198273C>G g.60902446C>G - - ERCC8_000007 submitted through SIB; ExPASy_025381 PubMed: Cao et al (2004) - - Germline - - - - - SIB - Livia Famiglietti
+/. - c.618-2A>G r.spl p.? - pathogenic (recessive) g.60195556T>C g.60899729T>C c.618-2A>G - ERCC8_000038 - - - - Germline - - - - - Min Peng
+/. - c.719-1G>A r.spl? p.? - pathogenic g.60194228C>T g.60898401C>T ERCC8(NM_000082.3):c.719-1G>A - ERCC8_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.784A>G r.(?) p.(Thr262Ala) - VUS g.60194162T>C g.60898335T>C - - ERCC8_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.797A>G r.(?) p.(Asp266Gly) - pathogenic g.60194149T>C g.60898322T>C ERCC8(NM_000082.3):c.797A>G (p.D266G), ERCC8(NM_000082.4):c.797A>G (p.(Asp266Gly)), ERCC8(NM_001007233.3):c.623A>G (p.D208G) - ERCC8_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.797A>G r.(?) p.(Asp266Gly) - likely pathogenic g.60194149T>C g.60898322T>C ERCC8(NM_000082.3):c.797A>G (p.D266G), ERCC8(NM_000082.4):c.797A>G (p.(Asp266Gly)), ERCC8(NM_001007233.3):c.623A>G (p.D208G) - ERCC8_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. ? c.797A>G r.(?) p.(Asp266Gly) - pathogenic g.60194149T>C g.60898322T>C - - ERCC8_000005 submitted through SIB; ExPASy_063510 PubMed: Laugel et al (2010) - - Germline - - - - - SIB - Livia Famiglietti
+/. - c.797A>G r.(?) p.(Asp266Gly) - pathogenic g.60194149T>C - ERCC8(NM_000082.3):c.797A>G (p.D266G), ERCC8(NM_000082.4):c.797A>G (p.(Asp266Gly)), ERCC8(NM_001007233.3):c.623A>G (p.D208G) - ERCC8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.803G>A r.(?) p.(Arg268Gln) - VUS g.60194143C>T - ERCC8(NM_000082.4):c.803G>A (p.(Arg268Gln)) - ERCC8_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.839C>A r.(?) p.(Thr280Lys) - VUS g.60194107G>T g.60898280G>T - - ERCC8_000027 conflicting interpretations of pathogenicity; 14 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61754098 Germline - 14/2795 individuals - - - Mohammed Faruq
-?/. - c.839C>A r.(?) p.(Thr280Lys) - likely benign g.60194107G>T - ERCC8(NM_000082.3):c.839C>A (p.T280K) - ERCC8_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.843+5G>C r.spl? p.? - likely pathogenic g.60194098C>G g.60898271C>G ERCC8(NM_000082.3):c.843+5G>C - ERCC8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 9i c.844-1309G>A r.(?) p.(=) - likely benign g.60188222C>T g.60892395C>T - - ERCC8_000009 - - - - Germline - - - - - Yu Sun
-?/. 9i c.844-1309G>A r.(?) p.(=) - likely benign g.60188222C>T g.60892395C>T - - ERCC8_000009 - - - - Germline - - - - - Yu Sun
-?/. 9i c.844-1055dup r.(?) p.(=) - likely benign g.60187976dup g.60892149dup 844-1055_844-1054insA - ERCC8_000010 - - - - Germline - - - - - Yu Sun
-?/. 9i c.844-577dup r.(?) p.(=) - likely benign g.60187501dup g.60891674dup 844-577_844-576insA - ERCC8_000011 - - - - Germline - - - - - Yu Sun
-?/. 9i c.844-577dup r.(=) p.(=) - likely benign g.60187501dup g.60891674dup 844-577_844-576insA - ERCC8_000011 - - - - Germline - - - - - Yu Sun
+/. - c.856A>T r.(856A>T) p.(Lys286*) - pathogenic (recessive) g.60186901T>A g.60891074T>A - - ERCC8_000037 - - - - Germline - - - - - Min Peng
+/. - c.856A>T r.(856A>T) p.(Lys286*) - pathogenic (recessive) g.60186901T>A g.60891074T>A - - ERCC8_000037 - - - - Germline - - - - - Min Peng
+?/. 10 c.952delG r.(?) p.(Val318PhefsTer10) - likely pathogenic g.60186805del g.60890978del - - ERCC8_000031 - - - rs766565870 Germline - - - - - LOVD
?/. - c.1016G>A r.(?) p.(Cys339Tyr) - VUS g.60186741C>T g.60890914C>T - - ERCC8_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. ? c.1083G>T r.(?) p.(Trp361Cys) - pathogenic g.60183306C>A g.60887479C>A - - ERCC8_000001 submitted through SIB; ExPASy_068177 PubMed: Nardo et al (2009) - - Germline - - - - - SIB - Livia Famiglietti
?/. - c.1105G>C r.(?) p.(Val369Leu) - VUS g.60183284C>G g.60887457C>G ERCC8(NM_000082.3):c.1105G>C (p.(Val369Leu)) - ERCC8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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