Unique variants in the PSEN2 gene

Information The variants shown are described using the NM_000447.2 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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Effect     

Reported     

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     
-/. 1 - c.-356A>G r.(?) p.(=) - benign g.227058344A>G g.226870643A>G - - PSEN2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.-275C>T r.(?) p.(=) - benign g.227059037C>T g.226871336C>T - - PSEN2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 5 - c.69T>C r.(?) p.(Ala23=) - benign g.227069677T>C g.226881976T>C PSEN2(NM_000447.2):c.69T>C (p.A23=), PSEN2(NM_000447.3):c.69T>C (p.A23=) - PSEN2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 - c.80C>T r.(?) p.(Thr27Met) ACMG VUS g.227069688C>T g.226881987C>T - - PSEN2_000074 ACMG: PM2 - - rs149354305 Germline - - - - - Andreas Laner
-/? 1 3 c.(86G>A) r.(?) p.(Arg29His) - benign g.225136317G>A - - - PSEN2_000025 1 more item - - - Unknown - - - - - Marc Cruts
?/? 1 3 c.(100G>A) r.(?) p.(Gly34Ser) - VUS g.227069708G>A g.226882007G>A - - PSEN2_000030 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - Marc Cruts
-/. 5 - c.129C>T r.(?) p.(Asn43=) - benign g.227069737C>T g.226882036C>T PSEN2(NM_000447.2):c.129C>T (p.N43=), PSEN2(NM_000447.3):c.129C>T (p.N43=) - PSEN2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
-/. 1 - c.141+30A>G r.(=) p.(=) - benign g.227069779A>G g.226882078A>G PSEN2(NM_000447.2):c.141+30A>G - PSEN2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.142-42G>A r.(=) p.(=) - benign g.227071364G>A g.226883663G>A PSEN2(NM_000447.3):c.142-42G>A - PSEN2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.142-23C>T r.(=) p.(=) - benign g.227071383C>T g.226883682C>T PSEN2(NM_000447.2):c.142-23C>T - PSEN2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 5 c.149A>G r.(?) p.(Gln50Arg) - VUS g.227071413A>G g.226883712A>G - - PSEN2_000024 - - - - Germline - - - - - Zafar Iqbal
?/? 1 4 c.(184C>T) r.(?) p.(Arg62Cys) - VUS g.227071448C>T g.226883747C>T - - PSEN2_000031 1 more item - - - Unknown no - - - - Marc Cruts
-/., -?/., ?/? 7 4 c.(185G>A), c.185G>A r.(?) p.(Arg62His) - benign, likely benign, VUS g.227071449G>A g.226883748G>A PSEN2(NM_000447.2):c.185G>A (p.R62H), PSEN2(NM_000447.3):c.185G>A (p.R62H) - PSEN2_000032 ;VKGL data sharing initiative Nederland, 1 more item - - rs58973334 CLASSIFICATION record, Unknown no - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC, Marc Cruts
-?/. 1 - c.207C>T r.(?) p.(Pro69=) - likely benign g.227071471C>T g.226883770C>T PSEN2(NM_000447.3):c.207C>T (p.P69=) - PSEN2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/., -?/., ?/., ?/? 6 4, 5 c.(211C>T), c.211C>T r.(?) p.(Arg71Trp) - benign, likely benign, VUS g.227071475C>T g.226883774C>T PSEN2(NM_000447.3):c.211C>T (p.R71W) - PSEN2_000021 VKGL data sharing initiative Nederland, 1 more item - - - CLASSIFICATION record, Germline, Unknown no - - - - Zafar Iqbal, VKGL-NL_Utrecht, VKGL-NL_VUmc, Marc Cruts
?/. 1 - c.253G>C r.(?) p.(Ala85Pro) - VUS g.227071517G>C g.226883816G>C PSEN2(NM_000447.3):c.253G>C (p.A85P) - PSEN2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+, +/. 2 4 c.(254C>T), c.254C>T r.(?) p.(Ala85Val) - pathogenic g.227071518C>T g.226883817C>T - - PSEN2_000033 1 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs63750048 Germline, Unknown yes 1/2794 individuals - - - Marc Cruts, Mohammed Faruq
-/. 5 - c.261C>T r.(?) p.(His87=) - benign g.227071525C>T g.226883824C>T PSEN2(NM_000447.2):c.261C>T (p.H87=), PSEN2(NM_000447.3):c.261C>T (p.H87=) - PSEN2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 - c.316A>G r.(?) p.(Ile106Val) - VUS g.227071580A>G g.226883879A>G PSEN2(NM_000447.2):c.316A>G (p.I106V) - PSEN2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.336C>T r.(?) p.(Tyr112=) - likely benign g.227071600C>T g.226883899C>T PSEN2(NM_000447.2):c.336C>T (p.Y112=), PSEN2(NM_000447.3):c.336C>T (p.Y112=) - PSEN2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
?/. 1 - c.341A>G r.(?) p.(Glu114Gly) - VUS g.227071605A>G - PSEN2(NM_000447.3):c.341A>G (p.E114G) - PSEN2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.357C>T r.(?) p.(Leu119=) - likely benign g.227073239C>T - PSEN2(NM_000447.3):c.357C>T (p.L119=) - PSEN2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 2 5 c.(364A>C) r.(?) p.(Thr122Pro) - pathogenic g.227073246A>C g.226885545A>C - - PSEN2_000034 Point mutation in coding region predicting an amino acid substitution - - rs63749851 Unknown no, yes - - - - Marc Cruts
+/+ 1 5 c.(365C>G) r.(?) p.(Thr122Arg) - pathogenic g.227073247C>G g.226885546C>G - - PSEN2_000035 Point mutation in coding region predicting an amino acid substitution - - rs28936380 Unknown yes - - - - Marc Cruts
-?/. 3 - c.366G>A r.(?) p.(Thr122=) - likely benign g.227073248G>A g.226885547G>A PSEN2(NM_000447.2):c.366G>A (p.T122=), PSEN2(NM_000447.3):c.366G>A (p.T122=) - PSEN2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
-?/., ?/., ?/? 4 5 c.(389C>T), c.389C>T r.(?) p.(Ser130Leu) - likely benign, VUS g.227073271C>T g.226885570C>T PSEN2(NM_000447.3):c.389C>T (p.S130L) - PSEN2_000036 Point mutation in coding region predicting an amino acid substitution, 1 more item - - rs63750197 CLASSIFICATION record, Unknown no - - - - VKGL-NL_Groningen, VKGL-NL_VUmc, Marc Cruts
?/. 1 6 c.400C>T r.(?) p.(Arg134Cys) - VUS g.227073282C>T g.226885581C>T - - PSEN2_000022 - - - - Germline - - - - - Zafar Iqbal
?/? 1 5 c.(415G>A) r.(?) p.(Val139Met) - VUS g.227073297G>A g.226885596G>A - - PSEN2_000037 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - Marc Cruts
+/+ 8 5 c.422A>T r.(?) p.(Asn141Ile) - pathogenic g.227073304A>T g.226885603A>T - - PSEN2_000038 Point mutation in coding region predicting an amino acid substitution - - rs63750215 Unknown no, yes - - - - Marc Cruts
-?/. 1 - c.423C>T r.(?) p.(Asn141=) - likely benign g.227073305C>T g.226885604C>T PSEN2(NM_000447.3):c.423C>T (p.N141=) - PSEN2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/? 1 5 c.(428T>A) r.(?) p.(Leu143His) - benign g.225139933T>A - - - PSEN2_000026 1 more item - - - Unknown - - - - - Marc Cruts
-?/. 2 - c.441C>T r.(?) p.(Ser147=) - likely benign g.227073323C>T g.226885622C>T PSEN2(NM_000447.3):c.441C>T (p.S147=) - PSEN2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
+/+ 1 5 c.(442G>A) r.(?) p.(Val148Ile) - pathogenic g.227073324G>A g.226885623G>A - - PSEN2_000039 Point mutation in coding region predicting an amino acid substitution - - rs63750812 Unknown no - - - - Marc Cruts
-/? 1 5 c.(488G>A) r.(?) p.(Arg163His) - benign g.225139993G>A - - - PSEN2_000027 1 more item - - - Unknown - - - - - Marc Cruts
-/. 1 - c.498+30G>C r.(=) p.(=) - benign g.227073410G>C g.226885709G>C PSEN2(NM_000447.2):c.498+30G>C - PSEN2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 2 6 c.(520A>G) r.(?) p.(Met174Val) - pathogenic g.227075813A>G g.226888112A>G - - PSEN2_000040 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - Marc Cruts
+/+ 1 6 c.(524C>G) r.(?) p.(Ser175Cys) - pathogenic g.227075817C>G g.226888116C>G - - PSEN2_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - - - Marc Cruts
-?/. 2 - c.606C>G r.(?) p.(Pro202=) - likely benign g.227076569C>G g.226888868C>G PSEN2(NM_000447.2):c.606C>G (p.P202=), PSEN2(NM_000447.3):c.606C>G (p.P202=) - PSEN2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/+ 1 7 c.(683A>T) r.(?) p.(Gln228Leu) - pathogenic g.227076646A>T g.226888945A>T - - PSEN2_000042 Point mutation in coding region predicting an amino acid substitution - - rs63750880 Unknown no - - - - Marc Cruts
-?/. 2 - c.690C>G r.(?) p.(Ala230=) - likely benign g.227076653C>G g.226888952C>G PSEN2(NM_000447.3):c.690C>G (p.A230=) - PSEN2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
+/+ 1 7 c.(692A>G) r.(?) p.(Tyr231Cys) - pathogenic g.227076655A>G g.226888954A>G - - PSEN2_000043 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - Marc Cruts
-/., -?/. 3 - c.708T>C r.(=), r.(?) p.(=), p.(Ser236=) - benign, likely benign g.227076671T>C g.226888970T>C PSEN2(NM_000447.2):c.708T>C (p.(Ser236=)), PSEN2(NM_000447.3):c.708T>C (p.S236=) - PSEN2_000061 16 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs61730652 CLASSIFICATION record, Germline - 16/2795 individuals - - - VKGL-NL_Leiden, VKGL-NL_VUmc, Mohammed Faruq
?/. 1 - c.710C>T r.(?) p.(Ala237Val) - VUS g.227076673C>T - PSEN2(NM_000447.3):c.710C>T (p.A237V) - PSEN2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+, +/. 2 7, 8 c.715A>G r.(?) p.(Met239Val) - pathogenic g.227076678A>G g.226888977A>G - - PSEN2_000020 Point mutation in coding region predicting an amino acid substitution submitted - rs28936379 Unknown yes - - - - Gael Nicolas, Marc Cruts
+/+ 1 7 c.(717G>A) r.(?) p.(Met239Ile) - pathogenic g.227076680G>A g.226888979G>A - - PSEN2_000044 Point mutation in coding region predicting an amino acid substitution - - rs63749884 Unknown yes - - - - Marc Cruts
-/? 1 7 c.(754G>A) r.(?) p.(Ala252Thr) - benign g.225143340G>A - - - PSEN2_000028 1 more item - - - Unknown - - - - - Marc Cruts
-?/. 3 - c.756G>C r.(?) p.(Ala252=) - likely benign g.227076719G>C g.226889018G>C PSEN2(NM_000447.2):c.756G>C (p.A252=), PSEN2(NM_000447.3):c.756G>C (p.A252=) - PSEN2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
+/. 1 - c.766del r.(?) p.(Leu256Trpfs*19) - pathogenic g.227076729del - PSEN2(NM_000447.3):c.766delC (p.L256Wfs*19) - PSEN2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.772G>A r.(?) p.(Ala258Thr) - VUS g.227076735G>A g.226889034G>A PSEN2(NM_000447.2):c.772G>A (p.A258T) - PSEN2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.861C>T r.(?) p.(Pro287=) - likely benign g.227077809C>T g.226890108C>T PSEN2(NM_000447.2):c.861C>T (p.P287=), PSEN2(NM_000447.3):c.861C>T (p.P287=) - PSEN2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/. 1 - c.887-24T>C r.(=) p.(=) - benign g.227078955T>C g.226891254T>C PSEN2(NM_000447.2):c.887-24T>C - PSEN2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.903G>T r.(?) p.(Thr301=) - likely benign g.227078995G>T g.226891294G>T PSEN2(NM_000447.3):c.903G>T (p.T301=) - PSEN2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/? 1 10 c.(1001C>G) r.(?) p.(Pro334Arg) - benign g.225146097C>G - - - PSEN2_000029 1 more item - - rs63750207 Unknown - - - - - Marc Cruts
-?/. 1 - c.1167G>A r.(?) p.(Leu389=) - likely benign g.227081802G>A g.226894101G>A PSEN2(NM_000447.2):c.1167G>A (p.L389=) - PSEN2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.1176C>T r.(?) p.(Phe392=) - benign, likely benign g.227081811C>T g.226894110C>T PSEN2(NM_000447.3):c.1176C>T (p.F392=) - PSEN2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
?/., ?/? 2 11, 12 c.(1177G>A), c.1177G>A r.(?) p.(Val393Met) - VUS g.227081812G>A g.226894111G>A - - PSEN2_000023 1 more item - - - Germline, Unknown no - - - - Zafar Iqbal, Marc Cruts
-/. 1 - c.1191+24G>A r.(=) p.(=) - benign g.227081850G>A g.226894149G>A PSEN2(NM_000447.2):c.1191+24G>A - ADCK3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1210C>G r.(?) p.(Leu404Val) - VUS g.227083143C>G g.226895442C>G PSEN2(NM_000447.2):c.1210C>G (p.L404V) - PSEN2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/. 2 12 c.(1289C>T), c.1289C>T r.(?) p.(Thr430Met) - pathogenic g.227083222C>T g.226895521C>T - - PSEN2_000045 2 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs63750666 Germline, Unknown yes 2/2794 individuals - - - Marc Cruts, Mohammed Faruq
?/. 1 - c.1303C>T r.(?) p.(Arg435Trp) - VUS g.227083236C>T - PSEN2(NM_000447.2):c.1303C>T (p.R435W) - ADCK3_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 12 c.(1316A>C) r.(?) p.(Asp439Ala) - pathogenic g.227083249A>C g.226895548A>C - - PSEN2_000046 Point mutation in coding region predicting an amino acid substitution - - rs63750110 Unknown no - - - - Marc Cruts
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