All variants in the CLPP gene

Information The variants shown are described using the NM_006012.2 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.(?_662-1)del r.? p.? - pathogenic g.(?_6368548)del - - - CLPP_000005 large genomic deletion covering part of the CLPP gene (confimed by qPCR) - - - Germline yes 1/3000 cases leukoencephalopathy - - - Tom Theunissen
+/. ? c.(?_-123)_(*194_?)del r.? p.? - pathogenic g.(?_6361463)_(6368915_?)del - - - CLPP_000006 deletion covering part of the CLPP gene - - - Germline yes 1/3000 cases leukoencephalopathy - - - Tom Theunissen
+/. 1 c.21del r.0? p.(Ala10Profs*117) - pathogenic g.6361606del g.6361595del - - CLPP_000002 variant causes frameshift which affects 10th aa of exon 1 giving non-sense change in exon 3; nonsense mediated decay of CLPP mRNA was confirmed (qPCR) soon available - - Germline yes 1/70 cases - - - Tom Theunissen
+/. 2i c.270+1G>A r.[270_271insains270+2_271-1, =, ?] p.[Ile91Valfs*39, =, ?] - NA g.6361955A>G g.6361944A>G - - CLPP_000009 in vitro COS7 cell expression cloning; 23/37 clones normal splicing, 11/37 retained intron 2, 3/37 other aberrant transcripts Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Jenkinson 2013, Journal: Jenkinson 2013 - - In vitro (cloned) - - - - - Johan den Dunnen
+/. 2i c.270+4A>G r.spl? p.? - pathogenic g.6361955A>G g.6361944A>G - - CLPP_000009 not in 772 control chromosomes PubMed: Jenkinson 2013, Journal: Jenkinson 2013, OMIM:var0003 - rs398123035 Germline yes - - - - Johan den Dunnen
+/. 2i c.270+4A>G r.[270_271insgtggins270+5_271-1, 255_270del]] p.[Ile91Valfs*39, Cys246Serfs*36] - NA g.6361955A>G g.6361944A>G - - CLPP_000009 in vitro COS7 cell expression cloning; 41/49 clones retained intron 2, 2/49 used cryptic donor site (c.255), 5/49 aberrant splicing (excl. either exon 2 or exon 3, most likely artifacts), 1/49 normal splicing PubMed: Jenkinson 2013, Journal: Jenkinson 2013 - - In vitro (cloned) - - - - - Johan den Dunnen
+/+ 2i c.270+4A>G r.spl? p.? - pathogenic g.6361955A>G g.6361944A>G - - CLPP_000009 - MORL Deafness Variation Database, PubMed: Jenkinson 2013, PubMed: Szafranski 2015 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. - c.306G>A r.(?) p.(Gln102=) - likely benign g.6362492G>A - CLPP(NM_006012.2):c.306G>A (p.Q102=) - CLPP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 4 c.425C>T r.(?) p.(Pro142Leu) - pathogenic g.6364520C>T g.6364509C>T - - CLPP_000004 - PMID will become available (submitted) - - Germline yes 1/3000 cases leukoencephalopathy - - - Tom Theunissen
+?/. 4 c.430T>C r.(430u>c) p.(Cys144Arg) - likely pathogenic g.6364525T>C g.6364514T>C - - CLPP_000001 - PubMed: Demain 2016, Journal: Demain 2016 - - Germline - - - - - Leigh Demain
+/. 4 c.433A>C r.(?) p.(Thr145Pro) - pathogenic g.6364528A>C g.6364517A>C - - CLPP_000007 not in 386 control chromosomes PubMed: Jenkinson 2013, Journal: Jenkinson 2013, OMIM:var0001 - rs398123033 Germline yes - - - - Johan den Dunnen
+/+ 4 c.433A>C r.(?) p.(Thr145Pro) - pathogenic g.6364528A>C g.6364517A>C - - CLPP_000007 - MORL Deafness Variation Database, PubMed: Szafranski 2015, PubMed: Jenkinson 2013, PubMed: Jenkinson 2012 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/. 4 c.439T>A r.(?) p.(Cys147Ser) - pathogenic g.6364534T>A g.6364523T>A - - CLPP_000010 - PubMed: Lerat 2016, Journal: Lerat 2016 - - Germline yes - - - - Johan den Dunnen
+/. 4 c.440G>C r.(440g>c) p.(Cys147Ser) - pathogenic g.6364535G>C g.6364524G>C - - CLPP_000008 not in 966 control chromosomes PubMed: Jenkinson 2013, Journal: Jenkinson 2013, OMIM:var0002 - rs398123034 Germline yes - - - - Johan den Dunnen
+/+ 4 c.440G>C r.(?) p.(Cys147Ser) - pathogenic g.6364535G>C g.6364524G>C - - CLPP_000008 - MORL Deafness Variation Database, PubMed: Ain 2007, PubMed: Jenkinson 2013, PubMed: Rehman 2011, PubMed: Szafranski 2015 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/. 4 c.484G>A r.(?) p.(Gly162Ser) - pathogenic g.6364579G>A g.6364568G>A - - CLPP_000003 in silico protein modeling confirmed deletriuos effects variant PMID will soon be available - - Germline yes 1/3000 cases leukoencephalopathy - - - Tom Theunissen
+?/. 4i c.556-2A>G r.spl p.? ACMG likely pathogenic (recessive) g.6366267A>G g.6366256A>G - - CLPP_000016 ACMG: PVS1, PM2_Sup - - - Germline - - - - - Andreas Laner
+/. 5 c.624C>G r.(624c>g) p.(Ile208Met) - pathogenic g.6366337C>G g.6366326C>G - - CLPP_000012 homozygosity mapping (SNP-array) PubMed: Dursun 2016, Journal: Dursun 2016 - - Germline yes - - - - Johan den Dunnen
+/. 5 c.661G>A r.[556_661del,=,655_661del] p.[Gly186Argfs*10,Glu221Lys,Val219Argfs*10] - pathogenic (recessive) g.6366374G>A g.6366363G>A - - CLPP_000015 - PubMed: Kremer 2017, PubMed: Yepez 2022 - - Germline - - - - - Johan den Dunnen
-?/. - c.661+8C>T r.(=) p.(=) - likely benign g.6366382C>T g.6366371C>T CLPP(NM_006012.2):c.661+8C>T - CLPP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.667G>A r.(?) p.(Ala223Thr) - VUS g.6368554G>A - CLPP(NM_006012.2):c.667G>A (p.A223T) - ALKBH7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 6 c.685T>G r.(685u>g) p.(Tyr229Asp) - pathogenic g.6368572T>G g.6368561T>G - - CLPP_000011 homozygosity mapping and exome sequencing; not in 224 control chromosomes PubMed: Ahmed 2015, Journal: Ahmed 2015 - - Germline yes - - - - Johan den Dunnen
-?/. - c.790G>A r.(?) p.(Val264Ile) - likely benign g.6368677G>A g.6368666G>A CLPP(NM_006012.2):c.790G>A (p.V264I) - ALKBH7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*4259G>A r.(=) p.(=) - VUS g.6372980G>A g.6372969G>A ALKBH7(NM_032306.4):c.149G>A (p.R50Q) - ALKBH7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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