Full data view for gene PCCA

Information The variants shown are described using the NM_000282.3 transcript reference sequence.

124 entries on 2 pages. Showing entries 1 - 100.
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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     
+/. _1_1i c.(?_-106)_(105+1_106-1)del r.0 p.0 Parent #1 - pathogenic g.(?_100741269)_(100741480_100755136)del - - - PCCA_000017 unknown variant 2nd chromosome PubMed: Desviat 2009 - - Germline - - - - - DNA, RNA MLPA - - acidemia, propionic 19157943-? PubMed: Desviat 2009 - - - Italy - - - - - 1 Johan den Dunnen
+/. 1_1i c.-10_105+11del r.? p.? Both (homozygous) ACMG pathogenic (recessive) g.100741365_100741490del g.100089111_100089236del - - PCCA_000053 minimum deletion size: 126bp - - - Germline yes 2/28 patients - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing acidemia, propionic AP-19 Unpublished - F ? Mexico Mexican 12y04m17y - - - 1 Miriam Erandi Reyna-Fabián
-?/. - c.36C>T r.(?) p.(Val12=) Unknown - likely benign g.100741410C>T g.100089156C>T PCCA(NM_000282.3):c.36C>T (p.V12=) - A2LD1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.42C>T r.(?) p.(Ala14=) Unknown - likely benign g.100741416C>T g.100089162C>T PCCA(NM_000282.4):c.42C>T (p.A14=) - A2LD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.105+2T>G r.spl? p.? Unknown - pathogenic g.100741481T>G - PCCA(NM_000282.3):c.105+2T>G - A2LD1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.145C>T r.(?) p.(Arg49Cys) Parent #1 - VUS g.100755176C>T g.100102922C>T - - PCCA_000040 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs148651921 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 2i_4i c.184-725_300+7924del r.184_300del p.Thr62_Ser100del Both (homozygous) - pathogenic g.100763370_100772239del g.100111116_100119985del 184-727del8860 - PCCA_000015 8.9 Kb deletion PubMed: Desviat 2009 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 19157943-? PubMed: Desviat 2009 - - - Malaysia - - - - - 1 Johan den Dunnen
+/. 2i_4i c.184-618_300+3930del r.184_300del p.Thr62_Ser100del Both (homozygous) - pathogenic g.100763477_100768245del g.100111223_100115991del 184-558del4779 - PCCA_000013 4.8 Kb deletion PubMed: Desviat 2009 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 19157943-? PubMed: Desviat 2009 - - - - - - - - - 5 Johan den Dunnen
+/. 2i_4i c.184-618_300+3930del r.? p.Thr62_Ser100del Unknown - NA g.100763477_100768245del g.100111223_100115991del - - PCCA_000013 expression cloning, no enzyme activity {PMID19157943:Desviat 2009} - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.184-17_184-16del r.(=) p.(=) Unknown - benign g.100764078_100764079del g.100111824_100111825del PCCA(NM_000282.4):c.184-17_184-16delGT - PCCA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.184-17_184-16del r.(=) p.(=) Unknown - benign g.100764078_100764079del g.100111824_100111825del PCCA(NM_000282.4):c.184-17_184-16delGT - PCCA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.184-17_184-16del r.(=) p.(=) Unknown - benign g.100764078_100764079del g.100111824_100111825del PCCA(NM_000282.4):c.184-17_184-16delGT - PCCA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i_4i c.(183+1_184-1)_(300+1_301-1)del r.184_300del p.Thr62_Ser100del Parent #1 - pathogenic g.(100755215_100764094)_(100764316_100807232)del - - - PCCA_000010 4.8 Kb deletion, unknown variant 2nd chromosome PubMed: Desviat 2009 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 19157943-? PubMed: Desviat 2009 - - - - - - - - - 3 Johan den Dunnen
+/. 2i_4i c.(183+1_184-1)_(300+1_301-1)del r.(del) p.(Thr62_Ser100del) Parent #2 - pathogenic g.(100755215_100764094)_(100764316_100807232)del - - - PCCA_000010 - PubMed: Desviat 2009 - - Germline - - - - - DNA SEQ - - acidemia, propionic p2 PubMed: Desviat 2009 - - - - - - - - - 1 Lourdes R. Desviat
-?/. - c.202G>A r.(?) p.(Val68Ile) Unknown - likely benign g.100764113G>A g.100111859G>A PCCA(NM_000282.3):c.202G>A (p.V68I) - PCCA_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.229C>T r.(?) p.(Arg77Trp) Parent #1 - likely pathogenic g.100764140C>T g.100111886C>T - - PCCA_000049 - PubMed: Wang 2019 - - Germline - 1/2 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 1 Johan den Dunnen
+/. 2i_4i c.231+1G>C r.184_300del p.Thr62_Ser100del Parent #1 - pathogenic g.100764143G>C g.100111889G>C - - PCCA_000012 unknown variant 2nd chromosome PubMed: Desviat 2009 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 19157943-? PubMed: Desviat 2009 - - - Australia - - - - - 1 Johan den Dunnen
+/. 2i_4i c.231+1G>C r.184_300del p.Thr62_Ser100del Parent #1 - pathogenic g.100764143G>C g.100111889G>C - - PCCA_000012 unknown variant 2nd chromosome PubMed: Desviat 2009 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 19157943-? PubMed: Desviat 2009 - - - Germany - - - - - 1 Johan den Dunnen
-?/. - c.231+47_231+50del r.(=) p.(=) Unknown - likely benign g.100764189_100764192del g.100111935_100111938del PCCA(NM_000282.4):c.231+47_231+50delTATT - A2LD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.299C>T r.(?) p.(Ser100Phe) Unknown - VUS g.100764314C>T g.100112060C>T PCCA(NM_000282.3):c.299C>T (p.S100F) - A2LD1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.300+2dup r.(?) p.(?) Unknown - likely pathogenic g.100764317dup - - - PCCA_000048 - - - rs2048370100 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.300+7A>G r.(=) p.(=) Unknown - VUS g.100764322A>G - PCCA(NM_000282.4):c.300+7A>G - A2LD1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.328G>C r.(?) p.(Val110Leu) Unknown - VUS g.100807260G>C - PCCA(NM_000282.4):c.328G>C (p.(Val110Leu)) - A2LD1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.425G>A r.(?) p.(Gly142Asp) Both (homozygous) ACMG pathogenic g.100809551G>A g.100157297G>A - - PCCA_000021 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - acidemia, propionic - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. - c.425G>A r.(?) p.(Gly142Asp) Parent #1 - pathogenic g.100809551G>A g.100157297G>A - - PCCA_000021 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs796052019 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.437T>C r.(?) p.(Leu146Pro) Parent #1 - likely pathogenic g.100809563T>C g.100157309T>C - - PCCA_000041 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs774457925 Germline - 1/2772 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.469G>T r.(?) p.(Ala157Ser) Unknown - likely benign g.100861586G>T - PCCA(NM_000282.3):c.469G>T (p.A157S) - A2LD1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.526G>A r.(?) p.(Asp176Asn) Unknown - VUS g.100861643G>A g.100209389G>A - - A2LD1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.601-12C>T r.(=) p.(=) Unknown - likely benign g.100888084C>T - PCCA(NM_000282.4):c.601-12C>T - A2LD1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.627A>G r.(?) p.(Ala209=) Unknown - benign g.100888122A>G g.100235868A>G PCCA(NM_000282.4):c.627A>G (p.A209=) - PCCA_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.627A>G r.(?) p.(Ala209=) Unknown - benign g.100888122A>G g.100235868A>G PCCA(NM_000282.4):c.627A>G (p.A209=) - PCCA_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.676G>A r.(?) p.(Gly226Arg) Both (homozygous) ACMG likely pathogenic (recessive) g.100909887G>A g.100257633G>A - - PCCA_000052 - - - - Germline yes 2/28 patients - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing acidemia, propionic AP-21 Unpublished - F yes Mexico Mexican ? - - - 1 Miriam Erandi Reyna-Fabián
+/. 10 c.734C>A r.(?) p.(Ser245*) Unknown ACMG pathogenic (recessive) g.100915000C>A g.100262746C>A - - PCCA_000051 - - - - Germline yes 1/28 patients - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing acidemia, propionic AP-08 Unpublished - F ? Mexico Mexican ? - - - 1 Miriam Erandi Reyna-Fabián
?/. - c.742G>A r.(?) p.(Glu248Lys) Unknown - VUS g.100915008G>A g.100262754G>A - - A2LD1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.782A>G r.(?) p.(Glu261Gly) Unknown - likely pathogenic g.100915048A>G g.100262794A>G PCCA(NM_000282.4):c.782A>G (p.E261G) - PCCA_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.870C>T r.(?) p.(Cys290=) Unknown - likely benign g.100920993C>T g.100268739C>T PCCA(NM_000282.4):c.870C>T (p.C290=) - A2LD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.893A>G r.(?) p.(Lys298Arg) Unknown - pathogenic g.100921016A>G - PCCA(NM_000282.3):c.893A>G (p.(Lys298Arg)) - A2LD1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.914+19A>G r.(=) p.(=) Unknown - benign g.100921056A>G g.100268802A>G PCCA(NM_000282.4):c.914+19A>G - PCCA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.914+19A>G r.(=) p.(=) Unknown - benign g.100921056A>G g.100268802A>G PCCA(NM_000282.4):c.914+19A>G - PCCA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.914+19A>G r.(=) p.(=) Unknown - benign g.100921056A>G g.100268802A>G PCCA(NM_000282.4):c.914+19A>G - PCCA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.923dup r.(?) p.(Leu308PhefsTer35) Unknown - pathogenic g.100925458dup g.100273204dup PCCA(NM_000282.3):c.923dupT (p.L308Ffs*35), PCCA(NM_000282.4):c.923dupT (p.L308Ffs*35) - A2LD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.923dup r.(?) p.(Leu308PhefsTer35) Unknown - pathogenic g.100925458dup g.100273204dup PCCA(NM_000282.3):c.923dupT (p.L308Ffs*35), PCCA(NM_000282.4):c.923dupT (p.L308Ffs*35) - A2LD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.923dup r.(?) p.(Leu308PhefsTer35) Unknown - pathogenic g.100925458dup - PCCA(NM_000282.3):c.923dupT (p.L308Ffs*35), PCCA(NM_000282.4):c.923dupT (p.L308Ffs*35) - A2LD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.929C>G r.(?) p.(Ala310Gly) Unknown - likely benign g.100925464C>G g.100273210C>G PCCA(NM_000282.3):c.929C>G (p.A310G), PCCA(NM_000282.4):c.929C>G (p.(Ala310Gly)) - A2LD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.929C>G r.(?) p.(Ala310Gly) Unknown - VUS g.100925464C>G - PCCA(NM_000282.3):c.929C>G (p.A310G), PCCA(NM_000282.4):c.929C>G (p.(Ala310Gly)) - A2LD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.937C>T r.(?) p.(Arg313*) Parent #1 - pathogenic g.100925472C>T g.100273218C>T - - PCCA_000042 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs138149179 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.937C>T r.(?) p.(Arg313*) Unknown - pathogenic g.100925472C>T - - - PCCA_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1037A>G r.(?) p.(Tyr346Cys) Unknown - VUS g.100925572A>G - PCCA(NM_000282.4):c.1037A>G (p.Y346C) - A2LD1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1065+5C>T r.spl? p.? Unknown - likely benign g.100925605C>T g.100273351C>T PCCA(NM_000282.3):c.1065+5C>T, PCCA(NM_000282.4):c.1065+5C>T - A2LD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1065+5C>T r.spl? p.? Unknown - likely benign g.100925605C>T g.100273351C>T PCCA(NM_000282.3):c.1065+5C>T, PCCA(NM_000282.4):c.1065+5C>T - A2LD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1065+5C>T r.spl? p.? Unknown - likely benign g.100925605C>T g.100273351C>T PCCA(NM_000282.3):c.1065+5C>T, PCCA(NM_000282.4):c.1065+5C>T - A2LD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12i_14i c.(1065+1_1066-1)_(1284+1_1285-1)del r.1066_1284del p.Val356_Gly428del Both (homozygous) - pathogenic g.(100925601_100953713)_(100955253_100959445)del - - - PCCA_000016 - PubMed: Desviat 2009 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 19157943-? PubMed: Desviat 2009 - - - Lebanon - - - - - 1 Johan den Dunnen
+/. 12i_20i c.(1065+1_1066-1)_(1845+1_1846-1)del r.1066_1845del p.Val356_Gln615del Parent #1 - pathogenic g.(100925601_100953713)_(101077986_101101505)del - - - PCCA_000020 unknown variant 2nd chromosome PubMed: Desviat 2009 - - Germline - - - - - DNA, RNA MLPA - - acidemia, propionic 19157943-? PubMed: Desviat 2009 - - - United States - - - - - 1 Johan den Dunnen
+?/. 13 c.1111C>T r.(?) p.(Gln371*) Parent #1 - likely pathogenic g.100953759C>T g.100301505C>T - - PCCA_000001 - PubMed: Desviat 2009 - - Germline - - - - - DNA SEQ - - acidemia, propionic p1 PubMed: Desviat 2009 - - - - - - - - - 1 Lourdes R. Desviat
+?/. - c.1138dup r.(?) p.(Tyr380LeufsTer9) Unknown - likely pathogenic g.100953786dup g.100301532dup - - A2LD1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 13 c.1140C>A r.(?) p.(Tyr380*) Parent #1 - likely pathogenic g.100953788C>A g.100301534C>A - - PCCA_000002 - PubMed: Desviat 2009 - - Germline - - - - - DNA SEQ - - acidemia, propionic p2 PubMed: Desviat 2009 - - - - - - - - - 1 Lourdes R. Desviat
-?/. - c.1154A>G r.(?) p.(Lys385Arg) Unknown - likely benign g.100953802A>G g.100301548A>G PCCA(NM_000282.4):c.1154A>G (p.K385R) - PCCA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1160C>G r.(?) p.(Ala387Gly) Unknown - VUS g.100953808C>G g.100301554C>G - - A2LD1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1168C>T r.(?) p.(Arg390Cys) Unknown - VUS g.100953816C>T g.100301562C>T PCCA(NM_000282.4):c.1168C>T (p.R390C) - A2LD1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1195C>T r.(?) p.(Arg399Trp) Parent #1 ACMG pathogenic (recessive) g.100953843C>T g.100301589C>T - - PCCA_000054 - - ClinVar-2772 rs1234167788 Germline yes 1/28 patients - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing acidemia, propionic AP-13 Unpublished - F yes Mexico Mexican 14y09m19d - - - 2 Miriam Erandi Reyna-Fabián
+?/. - c.1209+3A>G r.spl? p.(?) Both (homozygous) - likely pathogenic g.100953860A>G g.100301606A>G NM_000282.3:c.1209+3A>G; - PCCA_000047 - PubMed: Nair 2018 - - Unknown ? - - - - DNA SEQ-NG-I - whole exome sequencing acidemia, propionic ? PubMed: Nair 2018 - ? - Lebanon - - - - - 1 LOVD
-?/. - c.1209+5A>G r.spl? p.? Unknown - likely benign g.100953862A>G g.100301608A>G PCCA(NM_000282.3):c.1209+5A>G - A2LD1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1236A>G r.(?) p.(Pro412=) Unknown - likely benign g.100955204A>G g.100302950A>G PCCA(NM_000282.3):c.1236A>G (p.P412=), PCCA(NM_000282.4):c.1236A>G (p.P412=) - PCCA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1236A>G r.(?) p.(Pro412=) Unknown - likely benign g.100955204A>G - PCCA(NM_000282.3):c.1236A>G (p.P412=), PCCA(NM_000282.4):c.1236A>G (p.P412=) - PCCA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1257G>A r.(?) p.(Gln419=) Unknown - likely benign g.100955225G>A g.100302971G>A PCCA(NM_000282.4):c.1257G>A (p.Q419=) - A2LD1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1284+16G>A r.(=) p.(=) Unknown - benign g.100955268G>A g.100303014G>A PCCA(NM_000282.4):c.1284+16G>A - A2LD1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1284+16G>A r.(=) p.(=) Unknown - benign g.100955268G>A - PCCA(NM_000282.4):c.1284+16G>A - A2LD1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14i_19i c.(1284+1_1285-1)_(1746+1_1747-1)del r.1285_1746del p.Val429_Ser582 Parent #1 - pathogenic g.(100955253_100959445)_(101020829_101077886)del - - - PCCA_000019 unknown variant 2nd chromosome PubMed: Desviat 2009 - - Germline - - - - - DNA, RNA MLPA - - acidemia, propionic 19157943-? PubMed: Desviat 2009 - - - Germany - - - - - 1 Johan den Dunnen
+?/. 15 c.1288C>T r.(?) p.(Arg430*) Maternal (confirmed) - pathogenic (recessive) g.100959449C>T g.100307195C>T - - PCCA_000043 - - - - Germline - - - - - DNA SEQ - - acidemia, propionic - - - M - China - - - - - 1 Yangqi
?/. - c.1289G>A r.(?) p.(Arg430Gln) Unknown - VUS g.100959450G>A g.100307196G>A PCCA(NM_000282.4):c.1289G>A (p.R430Q) - PCCA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1289G>A r.(?) p.(Arg430Gln) Unknown - VUS g.100959450G>A g.100307196G>A PCCA(NM_000282.4):c.1289G>A (p.R430Q) - PCCA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1308A>C r.(?) p.(Gln436His) Unknown - VUS g.100959469A>C - PCCA(NM_000282.3):c.1308A>C (p.Q436H) - A2LD1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1353+16C>T r.(=) p.(=) Unknown - likely benign g.100959530C>T - PCCA(NM_000282.4):c.1353+16C>T - A2LD1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1353+18A>G r.(=) p.(=) Unknown - likely benign g.100959532A>G g.100307278A>G PCCA(NM_000282.4):c.1353+18A>G - PCCA_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1409T>G r.(?) p.(Leu470Arg) Unknown - likely pathogenic g.100962142T>G - PCCA(NM_000282.4):c.1409T>G (p.L470R) - A2LD1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.1423A>G r.(?) p.(Ile475Val) Unknown - VUS g.100962156A>G g.100309902A>G - - PCCA_000007 - - - rs35719359 Germline - - - - - DNA SEQ-NG - - - - PubMed: Almomani 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1423A>G r.(?) p.(Ile475Val) Unknown - likely benign g.100962156A>G g.100309902A>G PCCA(NM_000282.4):c.1423A>G (p.I475V) - PCCA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1423A>G r.(?) p.(Ile475Val) Unknown - benign g.100962156A>G g.100309902A>G PCCA(NM_000282.4):c.1423A>G (p.I475V) - PCCA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1423A>G r.(?) p.(Ile475Val) Unknown - likely benign g.100962156A>G g.100309902A>G PCCA(NM_000282.4):c.1423A>G (p.I475V) - PCCA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1426C>T r.(?) p.(Arg476*) Both (homozygous) - pathogenic (recessive) g.100962159C>T g.100309905C>T - - PCCA_000044 - - - - Germline - - - - - DNA SEQ Perpheral Blood - acidemia, propionic - - - F - China - - - - - 1 Yangqi
-/. - c.1429+7A>G r.(=) p.(=) Unknown - benign g.100962169A>G g.100309915A>G PCCA(NM_000282.4):c.1429+7A>G - PCCA_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16i_18i c.(1431+1_1432-1)_(1643+1_1644-1)del r.1430_1643del p.Gly477Glufs*9 Parent #1 - pathogenic g.(100962163_100982814)_(100992514_101020725)del - c.1430-?_1643+?del - PCCA_000018 mRNA analysis after culturing with emetine; unknown variant 2nd chromosome PubMed: Desviat 2009 - - Germline - - - - - DNA, RNA MLPA - - acidemia, propionic 19157943-? PubMed: Desviat 2009 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1456C>T r.(?) p.(Arg486Ter) Unknown - pathogenic g.100982841C>T g.100330587C>T PCCA(NM_000282.4):c.1456C>T (p.R486*) - PCCA_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 17 c.1477del r.1477del p.Arg493Alafs*3 Parent #2 - likely pathogenic g.100982862del g.100330608del - - PCCA_000011 - PubMed: Desviat 2009 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic p3 PubMed: Desviat 2009 - - - - - - - - - 1 Lourdes R. Desviat
?/. - c.1526C>T r.(?) p.(Pro509Leu) Unknown - VUS g.100982911C>T - PCCA(NM_000282.3):c.1526C>T (p.(Pro509Leu)) - A2LD1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1558A>T r.(?) p.(Ser520Cys) Unknown - likely benign g.100992428A>T - PCCA(NM_000282.3):c.1558A>T (p.S520C) - A2LD1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1593A>G r.(?) p.(Ser531=) Unknown - likely benign g.100992463A>G - PCCA(NM_000282.4):c.1593A>G (p.S531=) - A2LD1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 18 c.1625_1628del r.(?) p.(His542Leufs*14) Parent #2 - likely pathogenic g.100992495_100992498del g.100340241_100340244del - - PCCA_000009 - PubMed: Desviat 2009 - - Germline - - - - - DNA SEQ - - acidemia, propionic p1 PubMed: Desviat 2009 - - - - - - - - - 1 Lourdes R. Desviat
+?/. - c.1643+3A>G r.spl? p.? Both (homozygous) ACMG VUS g.100992516A>G g.100340262A>G - - PCCA_000055 - - - - Germline yes 2/28 patients - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing acidemia, propionic AP-16 Unpublished - M ? Mexico Mexican ? - - - 1 Miriam Erandi Reyna-Fabián
?/. 19 c.1651G>T r.(?) p.(Val551Phe) Unknown - VUS g.101020733G>T g.100368479G>T - - PCCA_000008 - - - rs61749895 Germline - - - - - DNA SEQ-NG - - Healthy/Control - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.1651G>T r.(?) p.(Val551Phe) Unknown - benign g.101020733G>T g.100368479G>T PCCA(NM_000282.4):c.1651G>T (p.V551F) - PCCA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1676G>T r.(?) p.(Trp559Leu) Unknown - likely benign g.101020758G>T g.100368504G>T - - PCCA_000046 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.015 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1746+12T>C r.(=) p.(=) Unknown - likely benign g.101020840T>C g.100368586T>C PCCA(NM_000282.4):c.1746+12T>C - A2LD1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 19i_24_ c.(?_1747-10)_(*11_?)del r.? p.? Parent #2 ACMG pathogenic (recessive) g.(?_101077877)_(101182431_?)del g.(?_100425623)_(100530177_?)del - - PCCA_000056 minimum deletion size: 104.6kb - - - Germline yes 1/28 patients - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing acidemia, propionic AP-13 Unpublished - F yes Mexico Mexican 14y09m19d - - - 2 Miriam Erandi Reyna-Fabián
-?/. - c.1752A>T r.(?) p.(Glu584Asp) Unknown - likely benign g.101077892A>T - PCCA(NM_000282.4):c.1752A>T (p.E584D) - A2LD1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 20 c.1831C>T r.1831c>u p.Gln611* Parent #1 - likely pathogenic g.101077971C>T g.100425717C>T - - PCCA_000003 - PubMed: Desviat 2009 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic p3 PubMed: Desviat 2009 - - - - - - - - - 1 Lourdes R. Desviat
-/. - c.1846-9G>T r.(=) p.(=) Unknown - benign g.101101497G>T g.100449243G>T PCCA(NM_000282.4):c.1846-9G>T - A2LD1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20i_20 c.1846-2_1852del r.1846_1899del p.Cys616_Val633 Parent #1 - pathogenic g.101101504_101101512del g.100449250_100449258del 1771IVS-2del9 - PCCA_000005 normal 2nd chromosome PubMed: Richard 1997, OMIM:var0001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09385377-SAG PubMed: Richard 1997 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.1850T>C r.(?) p.(Leu617Pro) Unknown - likely benign g.101101510T>C g.100449256T>C PCCA(NM_000282.3):c.1850T>C (p.(Leu617Pro)), PCCA(NM_000282.4):c.1850T>C (p.L617P) - A2LD1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1850T>C r.(?) p.(Leu617Pro) Unknown - likely benign g.101101510T>C - PCCA(NM_000282.3):c.1850T>C (p.(Leu617Pro)), PCCA(NM_000282.4):c.1850T>C (p.L617P) - A2LD1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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