Full data view for gene MSH3

Information The variants shown are described using the NM_002439.4 transcript reference sequence.

99 entries on 1 page. Showing entries 1 - 99.
Legend   How to query  

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     
-?/. - c.-20807C>T r.(?) p.(=) Unknown - likely benign g.79929740C>T - DHFR(NM_000791.3):c.441G>A (p.T147=) - DHFR_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-16821T>A r.(?) p.(=) Unknown - likely benign g.79933726T>A g.80637907T>A DHFR(NM_000791.3):c.345A>T (p.I115=) - DHFR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-16815del r.(?) p.(=) Unknown - VUS g.79933732del g.80637913del DHFR(NM_000791.3):c.339delC (p.W114Gfs*2) - DHFR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-16797T>G r.(?) p.(=) Unknown - likely benign g.79933750T>G g.80637931T>G DHFR(NM_000791.3):c.321A>C (p.A107=) - DHFR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-5274G>A r.(?) p.(=) Unknown - likely benign g.79945273G>A g.80649454G>A DHFR(NM_000791.3):c.177C>T (p.F59=) - DHFR_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-674A>C r.(?) p.(=) Unknown - likely benign g.79949873A>C - DHFR(NM_000791.3):c.90T>G (p.N30K) - DHFR_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-320G>C r.(?) p.(=) Unknown - likely benign g.79950227G>C g.80654408G>C DHFR(NM_000791.3):c.82C>G (p.(Leu28Val)) - DHFR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-299C>T r.(?) p.(=) Unknown - likely pathogenic g.79950248C>T g.80654429C>T - - DHFR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.21G>A r.(?) p.(Ala7=) Unknown - benign g.79950567G>A g.80654748G>A MSH3(NM_002439.4):c.21G>A (p.A7=) - DHFR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.21G>A r.(?) p.(Ala7=) Unknown - likely benign g.79950567G>A g.80654748G>A MSH3(NM_002439.4):c.21G>A (p.A7=) - DHFR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.21G>A r.(?) p.(Ala7=) Unknown - benign g.79950567G>A - MSH3(NM_002439.4):c.21G>A (p.A7=) - DHFR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.129A>G r.(?) p.(Ala43=) Unknown - likely benign g.79950675A>G g.80654856A>G MSH3(NM_002439.4):c.129A>G (p.A43=) - DHFR_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.143A>C r.(?) p.(Asp48Ala) Unknown - likely benign g.79950689A>C g.80654870A>C MSH3(NM_002439.4):c.143A>C (p.D48A) - DHFR_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.146C>G r.(?) p.(Pro49Arg) Unknown - VUS g.79950692C>G g.80654873C>G MSH3(NM_002439.4):c.146C>G (p.(Pro49Arg)) - MSH3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.162T>C r.(?) p.(Ala54=) Unknown - likely benign g.79950708T>C g.80654889T>C MSH3(NM_002439.4):c.162T>C (p.A54=), MSH3(NM_002439.4):c.162_171delTGCAGCGGCCinsCGCAGCGGCC (p.A54_A57=) - DHFR_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162_170del r.(?) p.(Ala60_Ala62del) Unknown - likely benign g.79950708_79950716del g.80654889_80654897del MSH3(NM_002439.4):c.162_170delTGCAGCGGC (p.A60_A62del) - DHFR_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162_170dup r.(?) p.(Ala60_Ala62dup) Unknown - likely benign g.79950708_79950716dup g.80654889_80654897dup MSH3(NM_002439.4):c.162_170dupTGCAGCGGC (p.A60_A62dup) - DHFR_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.162_179del r.(?) p.(Ala57_Ala62del) Unknown - benign g.79950708_79950725del g.80654889_80654906del MSH3(NM_002439.4):c.162_179delTGCAGCGGCCGCAGCGGC (p.A57_A62del) - DHFR_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.173C>T r.(?) p.(Ala58Val) Unknown - benign g.79950719C>T - MSH3(NM_002439.4):c.173C>T (p.A58V) - DHFR_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.178G>C r.(?) p.(Ala60Pro) Unknown - benign g.79950724G>C g.80654905G>C MSH3(NM_002439.4):c.178G>C (p.A60P) - DHFR_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.178_186del r.(?) p.(Ala60_Ala62del) Unknown - benign g.79950724_79950732del g.80654905_80654913del MSH3(NM_002439.4):c.178_186delGCCGCAGCG (p.A60_A62del) - DHFR_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.181_189dup r.(?) p.(Ala61_Pro63dup) Unknown - benign g.79950727_79950735dup g.80654908_80654916dup MSH3(NM_002439.4):c.181_189dupGCAGCGCCC (p.A61_P63dup) - MSH3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.181_189dup r.(?) p.(Ala61_Pro63dup) Unknown - benign g.79950727_79950735dup g.80654908_80654916dup MSH3(NM_002439.4):c.181_189dupGCAGCGCCC (p.A61_P63dup) - MSH3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.182_183insGCCCCCAGCGCCCCC r.(?) p.(Ala61_Ala62insProProAlaProPro) Unknown - likely benign g.79950728_79950729insGCCCCCAGCGCCCCC g.80654909_80654910insGCCCCCAGCGCCCCC MSH3(NM_002439.4):c.182_183insGCCCCCAGCGCCCCC (p.A61_A62insPPAPP) - DHFR_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.186_187insGCCGCAGCGCCCGCAGCG r.(?) p.(Ala62_Pro63insAlaAlaAlaProAlaAla) Unknown - likely benign g.79950732_79950733insGCCGCAGCGCCCGCAGCG g.80654913_80654914insGCCGCAGCGCCCGCAGCG MSH3(NM_002439.4):c.178_179insCCGCAGCGGCCGCAGCGC (p.(Ala62_Pro63insAlaAlaAlaProAlaAla)), MSH3(NM_002439.4):c.186_187insGCCGCAGCGCCCGCAGCG (p.A62_P...) - MSH3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.186_187insGCCGCAGCGCCCGCAGCG r.(?) p.(Ala62_Pro63insAlaAlaAlaProAlaAla) Unknown - benign g.79950732_79950733insGCCGCAGCGCCCGCAGCG g.80654913_80654914insGCCGCAGCGCCCGCAGCG MSH3(NM_002439.4):c.178_179insCCGCAGCGGCCGCAGCGC (p.(Ala62_Pro63insAlaAlaAlaProAlaAla)), MSH3(NM_002439.4):c.186_187insGCCGCAGCGCCCGCAGCG (p.A62_P...) - MSH3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.186_187insGCCGCAGCGCCCGCAGCG r.(?) p.(Ala62_Pro63insAlaAlaAlaProAlaAla) Unknown - benign g.79950732_79950733insGCCGCAGCGCCCGCAGCG g.80654913_80654914insGCCGCAGCGCCCGCAGCG MSH3(NM_002439.4):c.178_179insCCGCAGCGGCCGCAGCGC (p.(Ala62_Pro63insAlaAlaAlaProAlaAla)), MSH3(NM_002439.4):c.186_187insGCCGCAGCGCCCGCAGCG (p.A62_P...) - MSH3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.186_187insGCCGCAGCGCCCGCAGCG r.(?) p.(Ala62_Pro63insAlaAlaAlaProAlaAla) Unknown - benign g.79950732_79950733insGCCGCAGCGCCCGCAGCG - MSH3(NM_002439.4):c.178_179insCCGCAGCGGCCGCAGCGC (p.(Ala62_Pro63insAlaAlaAlaProAlaAla)), MSH3(NM_002439.4):c.186_187insGCCGCAGCGCCCGCAGCG (p.A62_P...) - MSH3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.186_203dup r.(?) p.(Pro64_Pro69dup) Unknown - benign g.79950732_79950749dup g.80654913_80654930dup MSH3(NM_002439.4):c.186_203dupGCCCCCAGCGCCCCCAGC (p.P64_P69dup) - DHFR_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.186_203dup r.(?) p.(Pro64_Pro69dup) Unknown - benign g.79950732_79950749dup - MSH3(NM_002439.4):c.186_203dupGCCCCCAGCGCCCCCAGC (p.P64_P69dup) - DHFR_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.189_190insGCAGCGCCCCCAGCGCCC r.(?) p.(Pro63_Pro64insAlaAlaProProAlaPro) Unknown - benign g.79950735_79950736insGCAGCGCCCCCAGCGCCC g.80654916_80654917insGCAGCGCCCCCAGCGCCC MSH3(NM_002439.4):c.189_190insGCAGCGCCCCCAGCGCCC (p.P63_P64insAAPPAP) - DHFR_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.189_190insGCAGCGCCCGCAGCGCCC r.(?) p.(Pro63_Pro64insAlaAlaProAlaAlaPro) Unknown - likely benign g.79950735_79950736insGCAGCGCCCGCAGCGCCC - MSH3(NM_002439.4):c.189_190insGCAGCGCCCGCAGCGCCC (p.P63_P64insAAPAAP) - DHFR_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.195_203del - p.(Pro67_Pro69del) Unknown - likely pathogenic g.79950741_79950749del g.80654922_80654930del NM_002439.4(MSH3):c.195_203del p.(Pro67_Pro69del) - MSH3_000008 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - DNA SEQ-NG - - cancer, gastric Vogelaar-107A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - 0 - - 1 Marjolijn JL Ligtenberg
-/. - c.195_203del r.(?) p.(Pro67_Pro69del) Unknown - benign g.79950741_79950749del g.80654922_80654930del DHFR(NM_000791.3):c.-428_-420delGGGGCGCTG, MSH3(NM_002439.4):c.195_203delGCCCCCAGC (p.P67_P69del) - MSH3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.195_203del r.(?) p.(Pro67_Pro69del) Unknown - benign g.79950741_79950749del g.80654922_80654930del DHFR(NM_000791.3):c.-428_-420delGGGGCGCTG, MSH3(NM_002439.4):c.195_203delGCCCCCAGC (p.P67_P69del) - MSH3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.195_203dup r.(?) p.(Pro67_Pro69dup) Unknown - benign g.79950741_79950749dup g.80654922_80654930dup MSH3(NM_002439.4):c.195_203dupGCCCCCAGC (p.P67_P69dup) - DHFR_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.195_203dup r.(?) p.(Pro67_Pro69dup) Unknown - benign g.79950741_79950749dup g.80654922_80654930dup MSH3(NM_002439.4):c.195_203dupGCCCCCAGC (p.P67_P69dup) - DHFR_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.199_207del r.(?) p.(Pro67_Pro69del) Unknown - benign g.79950745_79950753del g.80654926_80654934del MSH3(NM_002439.4):c.199_207delCCAGCTCCC (p.P67_P69del) - DHFR_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.203_204insGCCCCCAGCGCCCCCAGCGCCCCCAGC r.(?) p.(Pro69_Ala70insProAlaProProAlaProProAlaPro) Unknown - benign g.79950749_79950750insGCCCCCAGCGCCCCCAGCGCCCCCAGC g.80654930_80654931insGCCCCCAGCGCCCCCAGCGCCCCCAGC MSH3(NM_002439.4):c.203_204insGCCCCCAGCGCCCCCAGCGCCCCCAGC (p.P69_A70ins9) - DHFR_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.215C>T r.(?) p.(Pro72Leu) Unknown - VUS g.79950761C>T g.80654942C>T MSH3(NM_002439.4):c.215C>T (p.(Pro72Leu)) - MSH3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.230_232dup r.(?) p.(Pro77dup) Unknown InSiGHT VUS g.79950776_79950778dup - 224_225insGCC - MSH3_000016 - - - rs1490449810 Germline/De novo (untested) ? - - 0 - DNA SEQ-NG-I Whole blood - HNPCC MSI-RKM-063 - - M no India - ? - - - 1 Harsh Sheth
-/. - c.235A>G r.(?) p.(Ile79Val) Unknown - benign g.79950781A>G g.80654962A>G MSH3(NM_002439.4):c.235A>G (p.I79V) - DHFR_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.237+1G>C r.spl? p.? Unknown - likely pathogenic g.79950784G>C g.80654965G>C MSH3(NM_002439.4):c.237+1G>C - DHFR_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.287C>T r.(?) p.(Pro96Leu) Unknown - VUS g.79952279C>T g.80656460C>T MSH3(NM_002439.4):c.287C>T (p.P96L) - DHFR_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.291T>G r.(?) p.(Val97=) Unknown - likely benign g.79952283T>G g.80656464T>G MSH3(NM_002439.4):c.291T>G (p.V97=) - DHFR_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.359-7G>A r.(=) p.(=) Unknown - benign g.79960955G>A g.80665136G>A MSH3(NM_002439.4):c.359-7G>A - DHFR_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.562C>T r.(?) p.(Arg188Cys) Unknown - likely benign g.79961165C>T g.80665346C>T MSH3(NM_002439.4):c.562C>T (p.R188C) - DHFR_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.579+1G>C r.spl? p.? Unknown - pathogenic g.79961183G>C g.80665364G>C MSH3(NM_002439.4):c.579+1G>C - DHFR_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.670C>T r.(?) p.(Arg224Trp) Unknown - likely benign g.79966006C>T g.80670187C>T MSH3(NM_002439.4):c.670C>T (p.R224W) - DHFR_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.693G>A r.(?) p.(Pro231=) Unknown - benign g.79966029G>A g.80670210G>A MSH3(NM_002439.4):c.693G>A (p.P231=) - DHFR_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.792+7C>T r.(=) p.(=) Unknown - likely benign g.79966135C>T g.80670316C>T MSH3(NM_002439.4):c.792+7C>T - DHFR_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.792+8G>A r.(=) p.(=) Unknown - likely benign g.79966136G>A g.80670317G>A MSH3(NM_002439.4):c.792+8G>A - DHFR_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.792+8G>A r.(=) p.(=) Unknown - likely benign g.79966136G>A g.80670317G>A MSH3(NM_002439.4):c.792+8G>A - DHFR_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1019T>C r.(?) p.(Ile340Thr) Unknown - VUS g.79968669T>C g.80672850T>C MSH3(NM_002439.4):c.1019T>C (p.I340T) - DHFR_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.1035del r.(?) p.(Leu347*) Maternal (inferred) - likely pathogenic g.79970809del g.80674990del - - MSH3_000002 - - - - Germline yes - - 0 - DNA SEQ - - HNPCC - - - M - Germany - - 0 - - 1 Elke Holinski-Feder
+/. 7 c.1148del r.(?) p.(Lys383Argfs*32) Parent #1 - pathogenic g.79970922del g.80675103del - - MSH3_000003 confirmed by Sanger-sequencing on DNA-level - - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG-I blood - cancer, predisposition - - - F - Germany - >61y 0 - - 1 Stefan Aretz
-?/. - c.1174-20A>G r.(=) p.(=) Unknown - likely benign g.79974726A>G g.80678907A>G MSH3(NM_002439.4):c.1174-20A>G - DHFR_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1394A>G r.(?) p.(Tyr465Cys) Unknown - VUS g.80021325A>G g.80725506A>G - - MSH3_000014 - - - rs35009542 Germline ? - - 0 - DNA SEQ - - polyposis - - - ? ? Spain - 53y 0 - - 1 Mariona Terradas
-?/. - c.1394A>G r.(?) p.(Tyr465Cys) Unknown - likely benign g.80021325A>G g.80725506A>G MSH3(NM_002439.4):c.1394A>G (p.Y465C) - MSH3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1394A>G r.(?) p.(Tyr465Cys) Unknown ACMG VUS g.80021325A>G g.80725506A>G - - MSH3_000014 ACMG: PM2,PP3; co-occurence with pathogenic variant APC:c.422+2T>C - - rs35009542 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
?/. - c.1396A>G r.(?) p.(Ser466Gly) Unknown - VUS g.80021327A>G g.80725508A>G MSH3(NM_002439.4):c.1396A>G (p.(Ser466Gly)) - DHFR_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1453+15T>C r.(=) p.(=) Unknown - likely benign g.80021399T>C g.80725580T>C MSH3(NM_002439.4):c.1453+15T>C - DHFR_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1473dup r.(?) p.(Ile492HisfsTer3) Unknown - pathogenic g.80024689dup g.80728870dup MSH3(NM_002439.4):c.1473dupC (p.I492Hfs*3) - DHFR_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1503C>T r.(?) p.(Cys501=) Unknown - likely benign g.80024719C>T g.80728900C>T MSH3(NM_002439.4):c.1503C>T (p.C501=) - MSH3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1523A>G r.(?) p.(Lys508Arg) Unknown - likely benign g.80024739A>G g.80728920A>G MSH3(NM_002439.4):c.1523A>G (p.K508R) - DHFR_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1567G>A r.(?) p.(Glu523Lys) Unknown - benign g.80024783G>A g.80728964G>A MSH3(NM_002439.4):c.1567G>A (p.E523K) - DHFR_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1571A>C r.(?) p.(Asn524Thr) Unknown - benign g.80037285A>C g.80741466A>C MSH3(NM_002439.4):c.1571A>C (p.N524T) - DHFR_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1655C>T r.(?) p.(Thr552Ile) Unknown - likely benign g.80040326C>T g.80744507C>T MSH3(NM_002439.4):c.1655C>T (p.T552I) - DHFR_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1817G>A r.(?) p.(Ser606Asn) Unknown - likely benign g.80057418G>A g.80761599G>A MSH3(NM_002439.4):c.1817G>A (p.S606N) - DHFR_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1897-8A>G r.(=) p.(=) Unknown - benign g.80063744A>G g.80767925A>G MSH3(NM_002439.4):c.1897-8A>G - DHFR_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1992G>A r.(?) p.(Gln664=) Unknown - likely benign g.80063847G>A - MSH3(NM_002439.4):c.1992G>A (p.Q664=) - DHFR_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2041C>T r.(?) p.(Pro681Ser) Unknown - likely benign g.80063896C>T g.80768077C>T MSH3(NM_002439.4):c.2041C>T (p.P681S) - DHFR_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2041C>T r.(?) p.(Pro681Ser) Unknown - VUS g.80063896C>T g.80768077C>T MSH3(NM_002439.4):c.2041C>T (p.P681S) - DHFR_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2041C>T r.(?) p.(Pro681Ser) Unknown ACMG VUS g.80063896C>T g.80768077C>T - - DHFR_000045 reported in Ohmiya 2001. Gene 272: 301 - - rs115198722 Germline - - - 0 - DNA SEQ-NG-S - - - - - - M - - - - 0 - - 1 Andreas Laner
?/. - c.2041C>T r.(?) p.(Pro681Ser) Unknown - VUS g.80063896C>T g.80768077C>T MSH3(NM_002439.4):c.2041C>T (p.P681S) - DHFR_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2254-19T>G r.(=) p.(=) Unknown - likely benign g.80071494T>G g.80775675T>G MSH3(NM_002439.4):c.2254-19T>G - DHFR_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16i c.2319-1G>A r.2319_2435del p.0? Parent #1 - pathogenic g.80074538G>A g.80778719G>A - - MSH3_000006 confirmed by Sanger-sequencing on DNA and cDNA (RNA) level - - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG-I blood - cancer, predisposition - - - F - Germany - >50y 0 - - 1 Stefan Aretz
./. - c.2319-1G>A r.spl? p.? Unknown - likely pathogenic g.80074538G>A g.80778719G>A NM_002439.4(MSH3):c.2319-1G>A r.spl p.? - MSH3_000006 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - DNA SEQ-NG - - cancer, gastric Vogelaar-511A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - 0 - - 1 Marjolijn JL Ligtenberg
+/. - c.2319-1G>A r.spl? p.? Unknown - pathogenic g.80074538G>A g.80778719G>A MSH3(NM_002439.4):c.2319-1G>A - MSH3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2436-13G>T r.(=) p.(=) Unknown - likely benign g.80083371G>T g.80787552G>T MSH3(NM_002439.4):c.2436-13G>T - DHFR_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2436-1G>A r.(?) p.(?) Unknown ACMG likely pathogenic g.80083383G>A g.80787564G>A - - MSH3_000015 ACMG: PM2,PVS1 - - rs200639359 Germline - - - 0 - DNA SEQ-NG-S - - - - - - F - - - - 0 - - 1 Andreas Laner
-?/. - c.2438A>G r.(?) p.(Lys813Arg) Unknown - likely benign g.80083386A>G - MSH3(NM_002439.4):c.2438A>G (p.K813R) - DHFR_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2628A>G r.(?) p.(Gln876=) Unknown - likely benign g.80088636A>G g.80792817A>G MSH3(NM_002439.4):c.2628A>G (p.Q876=) - DHFR_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2685C>T r.(?) p.(Thr895=) Unknown - likely benign g.80109432C>T g.80813613C>T MSH3(NM_002439.4):c.2685C>T (p.T895=) - DHFR_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 20 c.2732T>G r.(?) p.(Leu911Trp) Unknown - VUS g.80109479T>G g.80813660T>G - - MSH3_000001 - - - - Germline - - - 0 - DNA SEQ - - CRC - - - - - Germany - - 0 - - 1 Elke Holinski-Feder
?/. - c.2732T>G r.(?) p.(Leu911Trp) Unknown - VUS g.80109479T>G g.80813660T>G - - MSH3_000001 - - - rs41545019 Germline ? - - 0 - DNA SEQ blood - FAP - - - M - Spain - 56y 0 - - 1 Mariona Terradas
?/. - c.2732T>G r.(?) p.(Leu911Trp) Unknown - VUS g.80109479T>G g.80813660T>G - - MSH3_000001 - - - rs41545019 Germline ? - - 0 - DNA SEQ - - FAP - - - M no Spain European Non-Finish 59y 0 - - 1 Mariona Terradas
-?/. - c.2732T>G r.(?) p.(Leu911Trp) Unknown - likely benign g.80109479T>G g.80813660T>G MSH3(NM_002439.4):c.2732T>G (p.L911W) - MSH3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2732T>G r.(?) p.(Leu911Trp) Unknown - likely benign g.80109479T>G g.80813660T>G MSH3(NM_002439.4):c.2732T>G (p.L911W) - MSH3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2732T>G r.(?) p.(Leu911Trp) Unknown - VUS g.80109479T>G g.80813660T>G MSH3(NM_002439.4):c.2732T>G (p.L911W) - MSH3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2732T>G r.(?) p.(Leu911Trp) Unknown - likely benign g.80109479T>G - MSH3(NM_002439.4):c.2732T>G (p.L911W) - MSH3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.2760del r.2760del p.Tyr921Metfs*36 Parent #2 - pathogenic g.80109507del g.80813688del 2760delC - MSH3_000007 confirmed by Sanger-sequencing on DNA and cDNA (RNA) level - - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG-I blood - cancer, predisposition - - - F - Germany - >50y 0 - - 1 Stefan Aretz
?/. - c.2818G>T r.(?) p.(Gly940Cys) Unknown - VUS g.80149953G>T - MSH3(NM_002439.4):c.2818G>T (p.G940C) - DHFR_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2846A>G r.(?) p.(Gln949Arg) Unknown - benign g.80149981A>G g.80854162A>G MSH3(NM_002439.4):c.2846A>G (p.Q949R) - DHFR_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3000T>G r.(?) p.(Asp1000Glu) Unknown - likely benign g.80150135T>G - MSH3(NM_002439.4):c.3000T>G (p.D1000E) - DHFR_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 21i c.3001-2A>C r.3001_3130del p.Val1001Argfs*16 Parent #2 - pathogenic g.80160630A>C g.80864811A>C - - MSH3_000004 confirmed by Sanger-sequencing on DNA and cDNA (RNA) level - - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG-I blood - cancer, predisposition - - - F - Germany - >61y 0 - - 1 Stefan Aretz
-/. - c.3133G>A r.(?) p.(Ala1045Thr) Unknown - benign g.80168937G>A g.80873118G>A MSH3(NM_002439.4):c.3133G>A (p.A1045T) - DHFR_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3282A>G r.(?) p.(Glu1094=) Unknown - likely benign g.80169086A>G g.80873267A>G MSH3(NM_002439.4):c.3282A>G (p.E1094=) - DHFR_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3364T>C r.(?) p.(Trp1122Arg) Unknown - likely benign g.80171631T>C g.80875812T>C MSH3(NM_002439.4):c.3364T>C (p.W1122R) - DHFR_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query