Unique variants in the TPM3 gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_152263.3 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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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.? r.? p.? - pathogenic g.? - - - TPM3_000000 TPM3-ALK fusion gene/transcript PubMed: Zhang 2010 - - Somatic - - - - - Johan den Dunnen
+/. 1 - c.-117_*6124{0} NM_002609.3:r.-469_1579::NM_153649.3:r.665_*2326 p.? - pathogenic g.154138067_qterdelins[NC_000005.9:149507614_qter] - - t(1;5)(q21.2;q33.1) TPM3_000035 - PubMed: Li 2011 - - Somatic - - - - - Johan den Dunnen
+/. 1 8i c.776_*6124{0} r._-117_775::NM_002609.3:r.1580_*1924 p.? - pathogenic g.[NC_000005.9:149507614_qter]delins154138067_pter - TPM3-PDGFRB fusion t(1;5)(q21.2;q33.1) TPM3_000000 translocation fusion TPM3 intron 8/PDGFRB intron 10 (NG_023367.1:1580-1437_1580-1436) PubMed: Li 2011 - - DUPLICATE record - - - - - Johan den Dunnen
+?/. 1 1 c.7G>C r.(?) p.(Glu3Gln) - likely pathogenic g.154164488C>G g.154192012C>G - - TPM3_000019 - - - - Unknown - - - - - Tom Winder
+?/. 2 1 c.11C>T r.(?) p.(Ala4Val) - likely pathogenic g.154164484G>A g.154192008G>A - - TPM3_000013 - PubMed: Lawlor 2009 - - Germline - <1/280 - - - Alan Beggs
+/. 7 1 c.(26T>G), c.26T>G r.(?), r.26u>g p.(Met9Arg), p.Met9Arg - NA, pathogenic (dominant) g.154164469A>C g.154191993A>C - - TPM3_000001 mouse model; TPM2 decreased, alpha/beta heterodimer formation reduced, 4 more items PubMed: Akkari 2002, PubMed: Corbett 2004, OMIM:var0001, PubMed: Greenfield 2002, 4 more items - - animal model, Germline, In vitro (cloned) - - - - - Johan den Dunnen, Kristen Nowak
?/. 1 1 c.43G>C r.(?) p.(Asp15His) - VUS g.154164452C>G g.154191976C>G - - TPM3_000020 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
?/. 1 - c.64C>T r.(?) p.(Arg22Trp) - VUS g.154164431G>A - - - TPM3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 1 c.65G>A r.(?) p.(Arg22Gln) - VUS g.154164430C>T g.154191954C>T - - TPM3_000042 - 0 ClinVar-RCV000551766.1 - Germline - - - - - LOVD
-/. 1 1 c.92A>C r.(?) p.(Lys31Thr) - benign g.154164403T>G g.154191927T>G - - TPM3_000028 - - - rs62000429 Germline - - - - - Tom Winder
+/. 2 1 c.94C>T r.(?) p.(Gln32*) - pathogenic g.154164401G>A g.154191925G>A Q31X - TPM3_000002 - PubMed: Tan 1999, OMIM:var0004 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.117+1G>A r.spl? p.? - VUS g.154164377C>T g.154191901C>T TPM3(NM_152263.2):c.117+1G>A - TPM3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.119T>G r.(?) p.(Leu40Arg) - VUS g.154163786A>C g.154191310A>C - - TPM3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 2 c.238G>C r.(?) p.(Ala80Pro) - likely pathogenic g.154163667C>G g.154191191C>G - - TPM3_000029 - - - - Germline - - - - - Tom Winder
-/. 1 2i c.244-5T>C r.(=) p.(=) - benign g.154148729A>G g.154176253A>G - - TPM3_000003 - PubMed: Tan 1999 - - Germline - - - - - Johan den Dunnen
-/. 1 3 c.249G>A r.(?) p.(=) - benign g.154148719C>T g.154176243C>T - - TPM3_000031 - - - - Germline - - - - - Tom Winder
+?/. 1 3 c.263C>T r.(?) p.(Ser88Phe) - likely pathogenic g.154148705G>A g.154176229G>A - - TPM3_000023 - - - - Germline - - - - - Minttu Marttila
+?/. 1 3 c.271C>T r.(?) p.(Arg91Cys) - likely pathogenic g.154148697G>A g.154176221G>A - - TPM3_000024 probable mosaicism - - - Unknown - - - - - Minttu Marttila
+?/. 1 3 c.272G>C r.(?) p.(Arg91Pro) - likely pathogenic g.154148696C>G g.154176220C>G - - TPM3_000015 de novo, in patient PubMed: Lawlor 2009 - - De novo - <1/280 - - - Alan Beggs
+/. 1 3 c.298C>A r.(?) p.(Leu100Met) - pathogenic (dominant) g.154148670G>T g.154176194G>T - - TPM3_000007 not in 200 control chromosomes PubMed: Clarke 2008, OMIM:var0007 - - Germline - - - - - Johan den Dunnen
?/. 1 3 c.298C>G r.(?) p.(Leu100Val) - VUS g.154148670G>C g.154176194G>C - - TPM3_000025 - - - - Germline - - - - - Minttu Marttila
-/. 1 3 c.327T>G r.(?) p.(=) - benign g.154148641A>C g.154176165A>C - - TPM3_000030 - - - - Germline - - - - - Tom Winder
?/. 1 - c.445C>A r.(=) p.(Leu149Ile) - VUS g.154145610G>T g.154173134G>T - - TPM3_000033 PolyPhen-2: PSIC: 0.991 (probably damaging) - - - Germline - - - - - Andreas Laner
+?/. 1 4 c.452A>C r.(?) p.(Glu151Ala) - likely pathogenic g.154145603T>G g.154173127T>G - - TPM3_000026 - - - - De novo - - - - - Minttu Marttila
+?/. 2 4 c.456_458dup r.(?) p.(Ala152_Lys153insAsn) - likely pathogenic g.154145597_154145599dup g.154173121_154173123dup - - TPM3_000018 - - - - De novo, Germline - - - - - Tom Winder
+/. 2 4 c.466G>A r.(?) p.(Ala156Thr) - pathogenic, pathogenic (dominant) g.154145589C>T g.154173113C>T - - TPM3_000016 not in 218 control chromosomes PubMed: Kiphuth 2010 - - Germline, Unknown - - - - - Johan den Dunnen
+/., +?/. 3 5 c.502C>G r.(?) p.(Arg168Gly) - likely pathogenic (recessive), pathogenic g.154145448G>C g.154172972G>C TPM3(NM_152263.2):c.502C>G (p.R168G) - TPM3_000008 not in 200 control chromosomes; de novo, VKGL data sharing initiative Nederland PubMed: Clarke 2008, OMIM:var0008, PubMed: Punetha 2016 - - CLASSIFICATION record, De novo, Germline/De novo (untested) - 1/94 cases - - - Johan den Dunnen, VKGL-NL_VUmc
+/., +?/. 11 5 c.502C>T r.(?) p.(Arg168Cys) - likely pathogenic, likely pathogenic (dominant), pathogenic g.154145448G>A g.154172972G>A - - TPM3_000009 not in 200 control chromosomes; de novo, in patient, VKGL data sharing initiative Nederland PubMed: Clarke 2008, OMIM:var0009, PubMed: Ohlsson 2009, OMIM:var0009, PubMed: Park 2017, 2 more items - - CLASSIFICATION record, De novo, Germline, Unknown - 1/209 cases - - - Johan den Dunnen, Tom Winder, VKGL-NL_Nijmegen
+/., +?/. 11 5 c.503G>A r.(0), r.(?) p.(Arg168His) - likely pathogenic, pathogenic, pathogenic (dominant) g.154145447C>T g.154172971C>T - - TPM3_000006 de novo, in patient, no variants in CHRNE, DOK7, FBN1, MTM1, DM1, RYR1, SEPN1, ACTA1, RAPSN, 4 more items PubMed: Clarke 2008, OMIM:var0005, PubMed: de Paula 2009, OMIM:var0005, PubMed: Durling 2002, 3 more items - - CLASSIFICATION record, De novo, Germline - <1/200 - - - Johan den Dunnen, Tom Winder, Alan Beggs, VKGL-NL_Nijmegen
+/. 1 5 c.505A>G r.(?) p.(Lys169Glu) - pathogenic g.154145445T>C g.154172969T>C - - TPM3_000010 not in 200 control chromosomes; de novo, in patient PubMed: Clarke 2008 - - De novo - - - - - Johan den Dunnen
+/. 1 5 c.521A>C r.(?) p.(Glu174Ala) - pathogenic g.154145429T>G g.154172953T>G - - TPM3_000017 probably de novo PubMed: Munot 2010 - - Unknown - - - - - Johan den Dunnen
+/. 1 4 c.535C>G r.(?) p.(Arg179Gly) - pathogenic (recessive) g.154145415G>C g.154172939G>C - - TPM3_000036 - - - - Germline yes - - - - Cristiane Moreno
?/. 1 - c.567-98_567-97dup r.(=) p.(=) - VUS g.154144067_154144068dup g.154171591_154171592dup - - TPM3_000032 - - - rs5777891 Germline - - - - - Andreas Laner
?/. 1 6i c.642+4G>T r.spl? p.? - VUS g.154143885C>A g.154171409C>A - - TPM3_000021 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
?/. 1 8 c.709G>A r.(?) p.(Glu237Lys) - VUS g.154142942C>T g.154170466C>T NM_001278191.1:n.574G>A - TPM3_000041 - - - - Germline yes ExAc no frequency - - - JA Bevilacqua
+?/. 1 8 c.721G>A r.(?) p.(Glu241Lys) - likely pathogenic g.154142930C>T g.154170454C>T - - TPM3_000014 de novo, in patient PubMed: Lawlor 2009 - - De novo - <1/280 - - - Alan Beggs
+/. 1 8 c.733A>G r.(?) p.(Arg245Gly) - pathogenic g.154142918T>C g.154170442T>C - - TPM3_000011 not in 200 control chromosomes; de novo, in patient PubMed: Clarke 2008 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.737C>T r.(?) p.(Ser246Leu) - VUS g.154142914G>A - TPM3(NM_152263.2):c.737C>T (p.S246L) - TPM3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 8 c.758C>A r.(?) p.(Thr253Lys) - VUS g.154142893G>T g.154170417G>T - - TPM3_000027 - - - - De novo - - - - - Minttu Marttila
-/. 2 8i c.776-49T>C r.(=), r.(?) p.(=) - benign g.154141908A>G g.154169432A>G - - TPM3_000022 - from website {DBsub-Emory} - rs4845364 Germline, Unknown - - - - - Madhuri Hegde, Andreas Laner
+/. 1 9i c.855-1G>A r.855_*6123delins*10216_*12633 p.= - pathogenic g.154140417C>T g.154167941C>T 855-1G>A - TPM3_000004 not in 218 control chromosomes; RNA muscle, reduced efficiency PubMed: Wattanasirichaigoon 2002, OMIM:var0003 - - Germline - - - - - Johan den Dunnen
+/. 6 10 c.855del r.(?), r.855del p.(*286Asnext*74), p.*286Asnext*74 - pathogenic g.154140416del g.154167940del 913delA - TPM3_000012 not in 240 control chromosomes; RNA muscle PubMed: Lehtokari 2008, OMIM:var0006 - - Germline - - - - - Johan den Dunnen
+/., +?/. 5 10 c.857A>C r.(?) p.(*286Serext*?) - likely pathogenic, pathogenic, pathogenic (recessive) g.154140414T>G g.154167938T>G 915A>C - TPM3_000005 not in 218 control chromosomes PubMed: Lawlor 2009, PubMed: Wattanasirichaigoon 2002, OMIM:var0002 - - Germline - <1/280 - - - Johan den Dunnen, Tom Winder, Alan Beggs
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