All variants in the PDSS2 gene

Information The variants shown are described using the NM_020381.3 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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.7T>C r.(?) p.(Phe3Leu) - benign g.107780483A>G g.107459279A>G - - PDSS2_000003 - - - - Germline - - - - - Andreas Laner
-/. - c.7T>C r.(?) p.(Phe3Leu) - benign g.107780483A>G g.107459279A>G PDSS2(NM_020381.3):c.7T>C (p.(Phe3Leu)), PDSS2(NM_020381.4):c.7T>C (p.F3L) - PDSS2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.7T>C r.(?) p.(Phe3Leu) - likely benign g.107780483A>G g.107459279A>G PDSS2(NM_020381.3):c.7T>C (p.(Phe3Leu)), PDSS2(NM_020381.4):c.7T>C (p.F3L) - PDSS2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.11G>C r.(?) p.(Arg4Pro) - benign g.107780479C>G g.107459275C>G - - PDSS2_000002 - - - - Germline - - - - - Andreas Laner
-/. - c.11G>C r.(?) p.(Arg4Pro) - benign g.107780479C>G g.107459275C>G PDSS2(NM_020381.3):c.11G>C (p.(Arg4Pro)), PDSS2(NM_020381.4):c.11G>C (p.R4P) - PDSS2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.11G>C r.(?) p.(Arg4Pro) - likely benign g.107780479C>G g.107459275C>G PDSS2(NM_020381.3):c.11G>C (p.(Arg4Pro)), PDSS2(NM_020381.4):c.11G>C (p.R4P) - PDSS2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.11G>C r.(?) p.(Arg4Pro) - likely benign g.107780479C>G g.107459275C>G - - PDSS2_000002 104 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3734676 Germline - 104/2793 individuals - - - Mohammed Faruq
-?/. - c.11G>C r.(?) p.(Arg4Pro) - likely benign g.107780479C>G g.107459275C>G - - PDSS2_000002 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3734676 Germline - 2/2793 individuals - - - Mohammed Faruq
-?/. - c.39T>C r.(?) p.(Tyr13=) - likely benign g.107780451A>G g.107459247A>G PDSS2(NM_020381.3):c.39T>C (p.Y13=) - PDSS2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.175A>G r.(?) p.(Ile59Val) - likely benign g.107780315T>C - PDSS2(NM_020381.3):c.175A>G (p.I59V) - PDSS2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.431+17C>T r.(=) p.(=) - benign g.107655385G>A g.107334181G>A PDSS2(NM_020381.4):c.431+17C>T - PDSS2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.431+17C>T r.(=) p.(=) - likely benign g.107655385G>A - PDSS2(NM_020381.4):c.431+17C>T - PDSS2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.431+44T>G r.(=) p.(=) - benign g.107655358A>C g.107334154A>C - - PDSS2_000001 - - - - Germline - - - - - Andreas Laner
-/. - c.432-106del r.(=) p.(=) - benign g.107595546del g.107274342del PDSS2(NM_020381.4):c.432-106delA - PDSS2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 3 c.488G>A r.(?) p.(Arg163His) ACMG VUS g.107595375C>T - - - PDSS2_000018 - PubMed: Bahena 2021 - - Germline yes - - - - Barbara Vona
-?/. - c.667G>A r.(?) p.(Val223Ile) - likely benign g.107566787C>T - PDSS2(NM_020381.4):c.667G>A (p.V223I) - PDSS2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 4i c.702+1G>A r.(631_702del) p.(Val211_Lys234del) ACMG likely pathogenic (recessive) g.107566751C>T g.107245547C>T - - PDSS2_000017 In vitro splice testing of the PDSS2 c.702+1G>A mutant allele indicated skipping of exon 4 (257 bp), leading to an in-frame deletion, r.631_702del p.(Val211_Lys234del). PubMed: Bahena 2021 - - Germline yes - - - - Barbara Vona
-?/. - c.712A>G r.(?) p.(Ile238Val) - likely benign g.107533477T>C - PDSS2(NM_020381.3):c.712A>G (p.I238V) - PDSS2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.849T>G r.(?) p.(Tyr283Ter) - likely pathogenic g.107533340A>C - PDSS2(NM_020381.4):c.849T>G (p.Y283*) - PDSS2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.871C>G r.(?) p.(His291Asp) - VUS g.107533318G>C - PDSS2(NM_020381.3):c.871C>G (p.H291D) - PDSS2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.876+103C>G r.(=) p.(=) - benign g.107533210G>C g.107212006G>C PDSS2(NM_020381.4):c.876+103C>G - PDSS2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1003G>A r.(?) p.(Gly335Arg) - likely benign g.107531648C>T g.107210444C>T PDSS2(NM_020381.3):c.1003G>A (p.G335R) - PDSS2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1003G>A r.(?) p.(Gly335Arg) ACMG pathogenic g.107531648C>T - - - PDSS2_000013 - - - rs17853951 Unknown - - - - - Cordula Haas
-?/. - c.1009-14C>G r.(=) p.(=) - likely benign g.107515072G>C - PDSS2(NM_020381.4):c.1009-14C>G - PDSS2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1042-19T>C r.(=) p.(=) - benign g.107476000A>G g.107154796A>G PDSS2(NM_020381.4):c.1042-19T>C - PDSS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1046G>A r.(?) p.(Arg349Gln) - likely benign g.107475977C>T - PDSS2(NM_020381.3):c.1046G>A (p.R349Q) - PDSS2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1134C>T r.(?) p.(Ser378=) - likely benign g.107475889G>A g.107154685G>A PDSS2(NM_020381.3):c.1134C>T (p.S378=) - PDSS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1146G>A r.(?) p.(Ser382=) - likely benign g.107475877C>T g.107154673C>T PDSS2(NM_020381.3):c.1146G>A (p.S382=), PDSS2(NM_020381.4):c.1146G>A (p.S382=) - PDSS2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1146G>A r.(?) p.(Ser382=) - likely benign g.107475877C>T - PDSS2(NM_020381.3):c.1146G>A (p.S382=), PDSS2(NM_020381.4):c.1146G>A (p.S382=) - PDSS2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1169A>G r.(?) p.(Asn390Ser) - VUS g.107475854T>C - PDSS2(NM_020381.3):c.1169A>G (p.N390S) - PDSS2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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