All transcript variants in gene PIGA

Information The variants shown are described using the NM_002641.3 transcript reference sequence.

83 entries on 1 page. Showing entries 1 - 83.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-75A>G likely benign r.(?) p.(=) g.15353635T>C - PIGA(NM_002641.3):c.-75A>G (p.(=), p.(Met1?)) - PIGA_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-63+3G>A VUS r.spl? p.? g.15353620C>T - PIGA(NM_002641.3):c.-63+3G>A (p.(=), p.?) - PIGA_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-63+140C>G - - p.(=) g.15353483G>C g.15335361G>C - - PIGA_000015 - - - - Germline - - - - - Yu Sun
?/. - c.-63+140C>G - - p.(=) g.15353483G>C g.15335361G>C - - PIGA_000015 - - - - Germline - - - - - Yu Sun
./. 2 c.16G>T - r.(?) p.(Gly6*) g.15350037C>A g.15331915C>A - - PIGA_000032 Variant found in 14% of clones. This mutation was found in patient's bone marrow before the treatment. PubMed: Nafa et al. 1998 - - Somatic yes - - 0 - Philippe Campeau
-/. - c.55C>T benign r.(?) p.(Arg19Trp) g.15349998G>A - PIGA(NM_002641.3):c.55C>T (p.R19W) - PIGA_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.56G>A VUS r.(?) p.(Arg19Gln) g.15349997C>T - PIGA(NM_002641.3):c.56G>A (p.R19Q) - PIGA_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.61A>G VUS r.(?) p.(Ser21Gly) g.15349992T>C - PIGA(NM_002641.3):c.61A>G (p.(Ser21Gly)) - PIGA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.61A>G VUS r.(?) p.(Ser21Gly) g.15349992T>C - PIGA(NM_002641.3):c.61A>G (p.(Ser21Gly)) - PIGA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. - c.76dup - r.(?) p.(Tyr26Leufs*4) g.15349977dup g.15331855dup - - PIGA_000002 This mutation was not found in the 1000 Genomes Project, dbSNP, or Exome Variant Server database. The patients had reduced CD59 surface expression.This early frameshift mutation in PIGA produces a truncated hypomorph. Complementation assays confirmed that this shorter PIGA cDNA was able to partially rescue the surface expression of CD59 in a PIGA-null cell line. PubMed: Belet et al 2014 - rs587777397 Germline yes - - 0 - Philippe Campeau
./. - c.76dup - r.(?) p.(Tyr26Leufs*4) g.15349977dup - 76dupT - PIGA_000002 - PubMed: Claes 1997 - - Germline - - - 0 - Guy Froyen
+?/. 2 c.98A>G Likely pathogenic r.(?) p.(His33Arg) g.15349955T>C g.15331833T>C - - PIGA_000040 - - - - Germline yes - - 0 - Wenjuan Qiu
+/. - c.110T>C - r.(?) p.(Met37Thr) g.15349943A>G - - - PIGA_000057 Hemizygous. Parents did not carry the mutation. A minor allele frequency (MAF) <0.01 and the mutation was predicted by Polyphen2, SIFT, and Mutation Taster to be damaging on protein function. - - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+/. 2 c.110T>C - r.(?) p.(Met37Thr) g.15349943A>G - - - PIGA_000057 Hemizygous. Parents did not carry the mutation. A minor allele frequency (MAF) <0.01 and the mutation was predicted by Polyphen2, SIFT, and Mutation Taster to be damaging on protein function. - - - Germline/De novo (untested) - - - 0 - Philippe Campeau
?/. - c.145G>A VUS r.(?) p.(Val49Met) g.15349908C>T - PIGA(NM_002641.3):c.145G>A (p.Val49Met) - PIGA_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/+? - c.145G>A - r.(?) p.(Val49Met) g.15349908C>T - - - PIGA_000049 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+?/. - c.182T>C likely pathogenic r.(?) p.(Ile61Thr) g.15349871A>G - PIGA(NM_002641,3):c.182T>C (p.(Ile61Thr)) - PIGA_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 2 c.211A>G - r.(?) p.(Thr71Ala) g.15349842T>C g.15331720T>C - - PIGA_000030 Mutation found in 13 over 36 clones. This mutation was present in the patient's bone marrow before the treatment. PubMed: Nafa et al 1998 - - Somatic yes - - 0 - Philippe Campeau
+?/+? - c.229C>G - r.(?) p.(Arg77Gly) g.15349824G>C - - - PIGA_000061 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
?/. - c.230G>A VUS r.(?) p.(Arg77Gln) g.15349823C>T - PIGA(NM_002641.3):c.230G>A (p.R77Q) - PIGA_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 2 c.230G>T - r.(?) p.(Arg77Leu) g.15349823C>A g.15331701C>A - - PIGA_000035 Variant in a highly conserved residue. It was absent in in the Exome Variant Server database or in 573 exome controls. In vitro studies showed that the mutant protein could partially restore GPI-anchored protein expression in PIGA-null cells. PubMed: Kato et al 2014 - rs587777398 Germline yes - - 0 - Philippe Campeau
+?/+? - c.236G>T - r.(?) p.(Gly79Val) g.15349817C>A - - - PIGA_000062 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+?/+? - c.242G>A - r.(?) p.(Arg81His) g.15349811C>T - - - PIGA_000063 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
?/. - c.248T>C VUS r.(?) p.(Leu83Pro) g.15349805A>G - PIGA(NM_002641.3):c.248T>C (p.L83P) - PIGA_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 2 c.251C>T - r.(?) p.(Thr84Ile) g.15349802G>A g.15331680G>A - - PIGA_000031 Mutation found in 5 over 36 clones. The clones carrying this mutation also carried the Thr71Ala mutation. Those mutations were found in the patient's BM before the treatment. PubMed: Nafa et al. 1998 - - Somatic yes - - 0 - Philippe Campeau
+/. - c.278C>T - r.(?) p.(Pro93Leu) g.15349775G>A g.15331653G>A - - PIGA_000039 This variant was not found in the dbSNP or Exome Variant Server databases, or in 100 in-house control exomes. No functional studies were performed. PubMed: van der Crabben et al 2014 - rs587777400 Germline yes - - 0 - Philippe Campeau
+/. - c.278C>T pathogenic r.(?) p.(Pro93Leu) g.15349775G>A - PIGA(NM_002641.3):c.278C>T (p.P93L) - PIGA_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.290T>A - r.(?) p.(Met97Lys) g.15349763A>T - c.290T>A p.(Met97Lys) (hem) [NM_002641.3] - PIGA_000060 Hemizygous mutation - - - Germline - - - 0 - Philippe Campeau
+/. - c.293A>C - r.(?) p.(Tyr98Ser) g.15349760T>G - PIGA (NM_002641.3) c.293A > C p. (Tyr98Ser) - PIGA_000058 Missense variant. This variant affects a highly conserved amino acid in a known functional domain of PIGA and causes a physiochemical change which is predicted in silico to be pathogenic (Polyphen-Probably damaging 0.976; SIFT-deleterious 0.01). - - - Germline - - - 0 - Philippe Campeau
?/. - c.313A>C VUS r.(?) p.(Thr105Pro) g.15349740T>G - PIGA(NM_002641):c.313A>C (p.(Thr105Pro)) - PIGA_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 c.355C>T - r.(?) p.(Arg119Trp) g.15349698G>A g.15331576G>A - - PIGA_000037 Variant at a highly conserved residue. It was absent in was not found in the Exome Variant Server database or in 573 control exomes. PubMed: Kato et al 2014 - rs587777396 Unknown yes - - 0 - Philippe Campeau
+/. - c.356G>A - r.(?) p.(Arg119Gln) g.15349697C>T - - - PIGA_000056 Patient's mother and aunt are carriers of the variant - - - Germline - - - 0 - Philippe Campeau
+?/+? - c.404C>T - r.(?) p.(Ala135Val) g.15349649G>A - - - PIGA_000064 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+?/. - c.424G>A - r.(?) p.(Ala142Thr) g.15349629C>T - - - PIGA_000053 - - - - Unknown - - - 0 - IMGAG
+?/. - c.427A>G - r.(?) p.(Lys143Glu) g.15349626T>C - - - PIGA_000050 - PubMed: Kim et al. 2016 - - Germline - - - 0 - Philippe Campeau
+?/+? - c.481G>A - r.(?) p.(Asp161Asn) g.15349572C>T - - - PIGA_000065 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
-?/. - c.492G>A likely benign r.(?) p.(=) g.15349561C>T - PIGA(NM_002641.3):c.492G>A (p.S164=) - PIGA_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.535A>T - r.(?) p.(Asn179Tyr) g.15349518T>A - - - PIGA_000052 - PubMed: Joshi et al. 2016 - - Germline yes - - 0 - Philippe Campeau
+?/. - c.535A>T - r.(?) p.(Asn179Tyr) g.15349518T>A - - - PIGA_000052 - PubMed: Joshi et al. 2016 - - Germline yes - - 0 - Philippe Campeau
+?/+? - c.565A>G - r.(?) p.(Lys189Glu) g.15349488T>C - - - PIGA_000066 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
-?/. - c.586G>A likely benign r.(?) p.(Ala196Thr) g.15349467C>T - PIGA(NM_002641.3):c.586G>A (p.(Ala196Thr)) - PIGA_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.613G>A - r.(?) p.(Val205Ile) g.15349440C>T - - - PIGA_000054 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
+/. 2 c.616A>T - r.(?) p.(Ile206Phe) g.15349437T>A g.15331315T>A - - PIGA_000036 Variant in a highly conserved residue. It was absent in the Exome Variant Server database or in 573 exome controls. In vitro studies showed that mutant protein partially restored GPI-anchored proteins expression in PIGA-null cells. PubMed: Kato et al 2014 - rs201119959 Unknown yes - - 0 - Philippe Campeau
?/. - c.665G>A VUS r.(?) p.(Arg222Lys) g.15349388C>T - PIGA(NM_002641.3):c.665G>A (p.(Arg222Lys)) - PIGA_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.665G>A VUS r.(?) p.(Arg222Lys) g.15349388C>T - PIGA(NM_002641.3):c.665G>A (p.(Arg222Lys)) - PIGA_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.715+168C>A - - p.(=) g.15349170G>T g.15331048G>T - - PIGA_000014 - - - - Germline - - - - - Yu Sun
?/. - c.849-130_849-129insTT - - p.(=) g.15343403_15343404insAA g.15325281_15325282insAA - - PIGA_000012 - - - - Germline - - - - - Yu Sun
?/. - c.849-130_849-129insTT - - p.(=) g.15343403_15343404insAA g.15325281_15325282insAA - - PIGA_000012 - - - - Germline - - - - - Yu Sun
-?/. - c.849-129_849-128dup likely benign r.(=) p.(=) g.15343402_15343403dup - PIGA(NM_002641.3):c.849-129_849-128dupTT - PIGA_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.849-128_849-127insTT - - p.(=) g.15343401_15343402insAA g.15325279_15325280insAA - - PIGA_000017 - - - - Germline - - - - - Yu Sun
?/. - c.849-128_849-127insTT - - p.(=) g.15343401_15343402insAA g.15325279_15325280insAA - - PIGA_000017 - - - - Germline - - - - - Yu Sun
-?/. - c.849-71G>A likely benign r.(=) p.(=) g.15343345C>T - PIGA(NM_002641.3):c.849-71G>A - PIGA_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.849-5A>G - r.spl? p.(Arg283Serfs*15) g.15343279T>C - - - PIGA_000055 Nonsense mutation - - - Germline - - - 0 - Philippe Campeau
+/. - c.849-5A>G - r.spl? p.(Arg283Serfs*15) g.15343279T>C - - - PIGA_000055 Nonsense mutation. The single‐nucleotide substitution is located in intron 3 of the PIGA gene and within the splice acceptor consensus sequence. In silico tools predict that this intronic variant may alter normal splicing, causing a four base pair insertion which creates a frameshift and a premature stop codon at position 297 - - - Germline - - - 0 - Philippe Campeau
+/. - c.849-5A>G - r.spl? p.(Arg283Serfs*15) g.15343279T>C - - - PIGA_000055 Nonsense mutation. The single‐nucleotide substitution is located in intron 3 of the PIGA gene and within the splice acceptor consensus sequence.In silico tools predict that this intronic variant may alter normal splicing, causing a four base pair insertion which creates a frameshift and a premature stop codon at position 297. - - - Germline - - - 0 - Philippe Campeau
+/. - c.971G>T pathogenic r.(?) p.(Cys324Phe) g.15343152C>A - PIGA(NM_002641.3):c.971G>T (p.Cys324Phe) - PIGA_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/+? - c.971G>T - r.(?) p.(Cys324Phe) g.15343152C>A - - - PIGA_000048 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
-?/. - c.981+8G>A likely benign r.(=) p.(=) g.15343134C>T - PIGA(NM_002641.3):c.981+8G>A - PIGA_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.989G>A - r.(?) p.(Ser330Asn) g.15342986C>T - - - PIGA_000051 - PubMed: Tarailo-Graovac et al. 2015 - - Germline yes - - 0 - Philippe Campeau
+/. 4 c.1030_1032delCTT - r.(?) p.(Leu344del) g.15342943_15342945delAAG g.15324821_15324823delAAG - - PIGA_000038 This variant was not found in the 1000 Genomes Project or Exome Variant Server databases. CD59 surface expression was normal in red blood cells, however, other GPI-anchored proteins were reduced in granulocytes. PubMed: Swoboda et al 2014 - rs587777399 Germline yes - - 0 - Philippe Campeau
+/. - c.1064T>C - r.(?) p.(Leu355Ser) g.15342911A>G - - - PIGA_000059 Heterozygous mutation. - - - De novo - - - 0 - Philippe Campeau
+/. 6 c.1234C>T - r.(?) p.(Arg412*) g.15339849G>A g.15321727G>A - - PIGA_000033 Mutation segregated with affected males and carriers. Absent in 409 controls. Transfection of p.Arg412(∗) PIGA construct into PIGA-null cells showed partial restoration of GPI-anchored proteins, which suggest partial activity. PubMed: Johnston et al 2012 - rs387906726 Germline yes - - 0 - Philippe Campeau
+/. 6 c.1234C>T - r.(?) p.(Arg412*) g.15339849G>A g.15321727G>A - - PIGA_000033 Expression of GPI-anchored proteins in PIGA-deficient JY5 cells was only partially restored after transfection. PubMed: Kato et al 2014 - rs387906726 Unknown yes - - 0 - Philippe Campeau
+/. - c.1234C>T - r.(?) p.(Arg412*) g.15339849G>A - - - PIGA_000033 Hemizygous - - - Germline - - - 0 - Philippe Campeau
+/. - c.1234C>T - r.(?) p.(Arg412*) g.15339849G>A - - - PIGA_000033 Hemizygous mutation. - - - Germline - - - 0 - Philippe Campeau
+/. 6 c.1234C>T - r.(?) p.(Arg412*) g.15339849G>A - - - PIGA_000033 Hemizygous mutation - - - Germline - - - 0 - Philippe Campeau
-?/. - c.1261G>A likely benign r.(?) p.(Gly421Ser) g.15339822C>T - PIGA(NM_002641.3):c.1261G>A (p.Gly421Ser) - PIGA_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
./. 6 c.1324_1355dup - r.(?) p.(Val453*) g.15339728_15339759dup g.15321606_15321637dup - - PIGA_000029 This variant was found with a 2bp insertion at 1355 position. This caused a frameshift and a stop codon at codon 452. 90% of PMN were deficient in CD59, CD24, and CD16. PubMed: Nafa et al. 1998 - - Somatic yes - - 0 - Philippe Campeau
?/. - c.1330T>G VUS r.(?) p.(Trp444Gly) g.15339753A>C - PIGA(NM_002641.3):c.1330T>G (p.W444G) - PIGA_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/+? - c.1352T>C - r.(?) p.(Ile451Thr) g.15339731A>G - - - PIGA_000067 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+?/+? - c.1354G>T - r.(?) p.(Asp452Tyr) g.15339729C>A - - - PIGA_000068 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
./. 6 c.1355_1356insAA - r.(?) p.(Asp452Glufs*5) g.15339727_15339728insTT g.15321605_15321606insTT - - PIGA_000028 This insertion was found with a duplication of the preceding 32 nucleotides. This insertion causes a frameshift and a stop codon at 452 postion. 90% of his PMN were deficient in CD59, CD24, and CD16. PubMed: Nafa et al 1998 - - Somatic yes - - 0 - Philippe Campeau
?/. - c.*1626T>C - - p.(=) g.15338002A>G g.15319880A>G - - PIGA_000009 - - - - Germline - - - - - Yu Sun
?/. - c.*1626T>C - - p.(=) g.15338002A>G g.15319880A>G - - PIGA_000009 - - - - Germline - - - - - Yu Sun
?/. - c.*1746T>A - - p.(=) g.15337882A>T g.15319760A>T - - PIGA_000006 - - - - Germline - - - - - Yu Sun
?/. - c.*1746T>A - - p.(=) g.15337882A>T g.15319760A>T - - PIGA_000006 - - - - Germline - - - - - Yu Sun
?/. - c.*1771dup - - p.(=) g.15337857dup g.15319735dup - - PIGA_000004 - - - - Germline - - - - - Yu Sun
?/. - c.*1771dup - - p.(=) g.15337857dup g.15319735dup - - PIGA_000004 - - - - Germline - - - - - Yu Sun
?/. - c.*1778_*1779insT - - p.(=) g.15337849_15337850insA g.15319727_15319728insA - - PIGA_000018 - - - - Germline - - - - - Yu Sun
?/. - c.*1778_*1779insT - - p.(=) g.15337849_15337850insA g.15319727_15319728insA - - PIGA_000018 - - - - Germline - - - - - Yu Sun
?/. - c.*2014A>G - - p.(=) g.15337614T>C g.15319492T>C - - PIGA_000003 - - - - Germline - - - - - Yu Sun
?/. - c.*2014A>G - - p.(=) g.15337614T>C g.15319492T>C - - PIGA_000003 - - - - Germline - - - - - Yu Sun
?/. - c.*5985A>G VUS r.(=) p.(=) g.15333643T>C - ASB11(NM_080873.2):c.85A>G (p.K29E) - ASB11_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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