Full data view for gene TNNI2

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_003282.3 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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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     
?/. - c.-2574C>A r.(?) p.(=) Unknown - VUS g.1857712C>A g.1836482C>A SYT8(NM_138567.3):c.616C>A (p.(Arg206Ser)) - SYT8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3i c.15+21C>G r.(?) p.(=) Parent #1 - VUS g.1861106C>G g.1839876C>G - - TNNI2_000005 - - - rs2292476 Germline - 0.00-0.01 - - - - - - - - - - - - - - - - - - - - -
-?/. - c.57+17G>C r.(=) p.(=) Unknown - likely benign g.1861691G>C - TNNI2(NM_001145829.2):c.57+17G>C - SYT8_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.57+17G>C r.(=) p.(=) Unknown - benign g.1861691G>C - TNNI2(NM_001145829.2):c.57+17G>C - SYT8_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.60T>C r.(?) p.(Ser20=) Unknown - benign g.1861760T>C g.1840530T>C TNNI2(NM_001145829.2):c.60T>C (p.S20=) - TNNI2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.60T>C r.(?) p.(Ser20=) Unknown - benign g.1861760T>C g.1840530T>C TNNI2(NM_001145829.2):c.60T>C (p.S20=) - TNNI2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.60T>C r.(?) p.(=) Unknown - benign g.1861760T>C g.1840530T>C - - TNNI2_000007 - from website {DBsub-Emory} - rs907610 Unknown - - - - - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.150G>A r.(?) p.(Pro50=) Unknown - benign g.1861850G>A g.1840620G>A TNNI2(NM_001145829.2):c.150G>A (p.P50=) - SYT8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5i c.186+26G>A r.(?) p.(=) Parent #1 - VUS g.1861912G>A g.1840682G>A - - TNNI2_000006 - - - rs2271441 Germline - 0.06-0.22 - - - - - - - - - - - - - - - - - - - - -
-/. 6i c.276+30C>T r.(?) p.(=) Unknown - benign g.1862168C>T g.1840938C>T - - TNNI2_000009 - from website {DBsub-Emory} - rs1877444 Unknown - - - - - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.277-17G>A r.(=) p.(=) Unknown - benign g.1862244G>A g.1841014G>A TNNI2(NM_001145829.2):c.277-17G>A - SYT8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.314G>A r.(?) p.(Gly105Asp) Unknown - VUS g.1862298G>A g.1841068G>A - - TNNI2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.333A>G r.(?) p.(Pro111=) Unknown - likely benign g.1862317A>G - TNNI2(NM_001145829.2):c.333A>G (p.P111=) - SYT8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.466C>T r.(?) p.(Arg156*) Parent #1 - pathogenic g.1862698C>T g.1841468C>T - - TNNI2_000003 not in 140 control chromosomes; de novo, in father PubMed: Sung 2003, OMIM:var0002 - rs104894312 Germline - - -BfuAI - - DNA SEQ - - DA - PubMed: Sung 2003, OMIM:var0002 3 generation family, 4 affecteds, father and 3 children M - United States - - - - - 4 Johan den Dunnen
+/. 8 c.466C>T r.(?) p.(Arg156*) Parent #1 - pathogenic g.1862698C>T g.1841468C>T - - TNNI2_000003 not in 140 control chromosomes; germline mosaicism parent? PubMed: Sung 2003, OMIM:var0002 - rs104894312 De novo - - -BfuAI - - DNA SEQ - - DA - PubMed: Sung 2003, OMIM:var0002 2 generation family, 2 affecteds (brother/sister) - - United States - - - - - 2 Johan den Dunnen
+/. 8 c.466C>T r.(?) p.(Arg156*) Maternal (confirmed) - pathogenic g.1862698C>T g.1841468C>T - - TNNI2_000003 autosomal dominant; possibly de novo in mother (grandparents not available) PubMed: Drera 2006, OMIM:var0002 - rs104894312 Germline - - -BfuAI - - DNA SEQ - - DA - PubMed: Drera 2006 3 generation family, affected mother/son M - Italy - - - - - 2 Johan den Dunnen
+/. 8 c.466C>T r.(?) p.(Arg156*) Parent #1 - pathogenic g.1862698C>T g.1841468C>T - - TNNI2_000003 - PubMed: Beck 2013 - - Germline - - - - - DNA SEQ - - DA 23401156-p3 PubMed: Beck 2013 - - - United States - - - - - 1 Johan den Dunnen
+/. 8 c.466C>T r.(?) p.(Arg156*) Parent #1 - pathogenic g.1862698C>T g.1841468C>T - - TNNI2_000003 - PubMed: Beck 2013 - - Germline - - - - - DNA SEQ - - DA 23401156-p2 PubMed: Beck 2013 - - - United States - - - - - 1 Johan den Dunnen
+/. 8 c.466C>T r.(?) p.(Arg156*) Parent #1 - pathogenic g.1862698C>T g.1841468C>T - - TNNI2_000003 - PubMed: Beck 2013 - - Germline - - - - - DNA SEQ - - DA 23401156-p1 PubMed: Beck 2013 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.466C>T r.(?) p.(Arg156*) Parent #1 ACMG pathogenic (dominant) g.1862698C>T g.1841468C>T - - TNNI2_000003 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - - - DNA SEQ - - DA D16-0481 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - 1 Gianina Ravenscroft
+?/. - c.482G>A r.(?) p.(Trp161Ter) Unknown - likely pathogenic g.1862714G>A g.1841484G>A TNNI2(NM_001145829.2):c.482G>A (p.W161*) - TNNI2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.484A>G r.(?) p.(Arg162Gly) Parent #1 - pathogenic g.1862716A>G g.1841486A>G - - TNNI2_000012 - PubMed: Beck 2013 - - Germline - - - - - DNA SEQ - - DA 23401156-q1 PubMed: Beck 2013 - - - United States - - - - - 1 Johan den Dunnen
+/. 8 c.499_501del r.(?) p.(Glu167del) Paternal (confirmed) - pathogenic g.1862731_1862733del g.1841501_1841503del 496_498delGAG (E167del) - TNNI2_000004 not in 100 control chromosomes PubMed: Shrimpton 2006, OMIM:var0005 - - Germline - - - - - DNA SEQ - - DA - PubMed: Shrimpton 2006 4 generation family, 6 affecteds - no United States - - - - - 6 Johan den Dunnen
+/. 8 c.499_501del r.(?) p.(Glu167del) Parent #1 - pathogenic g.1862731_1862733del g.1841501_1841503del 496_498delGAG - TNNI2_000004 - PubMed: Beck 2013 - - Germline - - - - - DNA SEQ - - DA 23401156-r1 PubMed: Beck 2013 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.499_501del r.(?) p.(Glu167del) Unknown ACMG pathogenic g.1862731_1862733del g.1841501_1841503del c.499_501delGAG - TNNI2_000004 no variant 2nd chromosome PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - - - DNA SEQ - - DA D18-2142 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - 1 Gianina Ravenscroft
+/. - c.499_501del r.(?) p.(Glu167del) Unknown - pathogenic g.1862731_1862733del - TNNI2(NM_001145829.2):c.499_501delGAG (p.E167del) - TNNI2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.502A>G r.(?) p.(Lys168Glu) Parent #1 - pathogenic g.1862734A>G g.1841504A>G - - TNNI2_000013 - PubMed: Beck 2013 - - Germline - - - - - DNA SEQ - - DA 23401156-s1 PubMed: Beck 2013 - - - United States - - - - - 1 Johan den Dunnen
+?/. 8 c.521G>A r.(?) p.(Arg174Gln) Unknown - likely pathogenic g.1862753G>A g.1841523G>A - - TNNI2_000002 1) Sung 2003 found in 2 independent families with DA2B; in one family 521G>A arose de novo and segregated with DA2B in all affected children; 2) Beck 2013 identified a family with Distal arthrogryposis type 1 in affected father and child - ClinVar-12435 rs104894311 Germline/De novo (untested) ? - - - - DNA SEQ-NG-I Amniotic fluid, fetal cells - arthrogryposis 129386 - prenatal analysis, fetus has been analyzed with panel "Fetale Akinesie / Arthrogryposis Multiplex Congenita (AMC) ID 078.02 - 186 genes" (www.mgz-muenchen.de). Contamination test has been performed ? ? Germany - - - - - 1 Andreas Laner
+/. 8 c.521G>A r.(?) p.(Arg174Gln) Parent #1 - pathogenic g.1862753G>A g.1841523G>A - - TNNI2_000002 not in 140 control chromosomes PubMed: Sung 2003, OMIM:var0001 - rs104894311 Germline - - +MspI - - DNA SEQ - - DA - PubMed: Sung 2003, OMIM:var0001 5-generation family, 22 affecteds - - United States - - - - - 22 Johan den Dunnen
+/. 8 c.521G>A r.(?) p.(Arg174Gln) Parent #1 - pathogenic g.1862753G>A g.1841523G>A - - TNNI2_000002 not in 140 control chromosomes; de novo, in father PubMed: Sung 2003, OMIM:var0001 - rs104894311 Germline - - +MspI - - DNA SEQ - - DA - PubMed: Sung 2003, OMIM:var0001 3 generation family, 3 affecteds, father and 2 children M - United States - - - - - 3 Johan den Dunnen
+/. 8 c.521G>A r.(?) p.(Arg174Gln) Parent #1 - pathogenic g.1862753G>A g.1841523G>A - - TNNI2_000002 - PubMed: Beck 2013 - - Germline - - - - - DNA SEQ - - DA 23401156-t1 PubMed: Beck 2013 - - - United States - - - - - 1 Johan den Dunnen
+/. 8 c.521G>A r.(?) p.(Arg174Gln) Parent #1 - pathogenic g.1862753G>A g.1841523G>A - - TNNI2_000002 - PubMed: Beck 2013 - - Germline - - - - - DNA SEQ - - DA 23401156-u1 PubMed: Beck 2013 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.521G>A r.(?) p.(Arg174Gln) Unknown - pathogenic g.1862753G>A g.1841523G>A TNNI2(NM_001145829.2):c.521G>A (p.R174Q) - TNNI2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.521G>A r.(?) p.(Arg174Gln) Unknown ACMG likely pathogenic g.1862753G>A g.1841523G>A - - TNNI2_000002 ACMG grading: PS3,PM5,PP5; Richard et al. 1999. Am 64: 1524-40; Luo et al. 2012. Muscle Nerv 46: 723-9; Nallamilli et al. 2018. Ann Clin Transl Neurol 5: 1574-1587; Lahoria et al. 2016. J Neurol Sci 361: 29-33 - - rs104894311 Germline - - - - - DNA SEQ-NG-S - - ? - - - ? - Germany - - - - - 1 Andreas Laner
+/. - c.521G>A r.(?) p.(Arg174Gln) Unknown ACMG pathogenic (dominant) g.1862753G>A g.1841523G>A - - TNNI2_000002 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - De novo - - - - - DNA SEQ - - DA D16-0627 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - 1 Gianina Ravenscroft
+/. - c.521G>A r.(?) p.(Arg174Gln) Parent #1 ACMG pathogenic (dominant) g.1862753G>A g.1841523G>A - - TNNI2_000002 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - - - DNA SEQ - - DA D19-0904 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - 1 Gianina Ravenscroft
+/. - c.521G>A r.(?) p.(Arg174Gln) Unknown ACMG pathogenic g.1862753G>A g.1841523G>A - - TNNI2_000002 no variant 2nd chromosome PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - - - DNA SEQ - - DA D19-1111 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - 1 Gianina Ravenscroft
+?/. - c.525G>T r.(?) p.(Lys175Asn) Unknown - likely pathogenic g.1862757G>T g.1841527G>T TNNI2(NM_001145829.2):c.525G>T (p.K175N) - TNNI2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.525G>T r.(?) p.(Lys175Asn) Parent #1 - pathogenic g.1862757G>T g.1841527G>T - - TNNI2_000011 - PubMed: Beck 2013 - - De novo - - - - - DNA SEQ - - DA 23401156-v1 PubMed: Beck 2013 - - - United States - - - - - 1 Johan den Dunnen
+/. 8 c.527_529del r.(?) p.(Lys176del) Paternal (confirmed) - pathogenic g.1862759_1862761del g.1841529_1841531del - - TNNI2_000001 - PubMed: Kimber 2006, OMIM:var0004 - - Germline - - - - - DNA SEQ - - DA - PubMed: Kimber 2006 3-generation family, 5 affecteds; mother congenital hip dislocation F - Sweden - - - - - 1 Johan den Dunnen
+/. 8 c.527_529del r.(?) p.(Lys176del) Paternal (confirmed) - pathogenic g.1862759_1862761del g.1841529_1841531del - - TNNI2_000001 - PubMed: Kimber 2006, OMIM:var0004 - - Germline - - - - - DNA SEQ - - DA - PubMed: Kimber 2006 paternal uncle of 16924011-IV.1 M - Sweden - - - - - 1 Johan den Dunnen
+/. 8 c.527_529del r.(?) p.(Lys176del) Paternal (confirmed) - pathogenic g.1862759_1862761del g.1841529_1841531del - - TNNI2_000001 - PubMed: Kimber 2006, OMIM:var0004 - - Germline - - - - - DNA SEQ - - DA - PubMed: Kimber 2006 paternal uncle of 16924011-IV.1 M - Sweden - - - - - 1 Johan den Dunnen
+/. 8 c.527_529del r.(?) p.(Lys176del) Paternal (confirmed) - pathogenic g.1862759_1862761del g.1841529_1841531del - - TNNI2_000001 - PubMed: Kimber 2006, OMIM:var0004 - - Germline - - - - - DNA SEQ - - DA - PubMed: Kimber 2006 father of 16924011-IV.1 M - Sweden - - - - - 1 Johan den Dunnen
+/. 8 c.527_529del r.(?) p.(Lys176del) Parent #1 - pathogenic g.1862759_1862761del g.1841529_1841531del - - TNNI2_000001 possibly de novo PubMed: Kimber 2006, OMIM:var0004 - - Unknown - - - - - DNA SEQ - - DA - PubMed: Kimber 2006 paternal grandfather of 16924011-IV.1 M - Sweden - - - - - 1 Johan den Dunnen
+/. 8 c.527_529del r.(?) p.(Lys176del) Maternal (confirmed) - pathogenic g.1862759_1862761del g.1841529_1841531del 523_525delAAG (K175del) - TNNI2_000001 not in 100 control chromosomes; linkage LOD=3.61, autosomal dominant PubMed: Jiang 2006, PubMed: Jiang 2007, OMIM:var0003 - - Germline - - - - - DNA HD, SEQ - - DA - PubMed: Jiang 2004, PubMed: Jiang 2006, PubMed: Jiang 2007 3 generation family, 9 affecteds F no China - - - - - 9 Johan den Dunnen
+/. 8 c.527_529del r.(?) p.(Lys176del) Parent #1 - pathogenic g.1862759_1862761del g.1841529_1841531del 523_525delAAG - TNNI2_000001 - PubMed: Beck 2013 - - Germline - - - - - DNA SEQ - - DA 23401156-w1 PubMed: Beck 2013 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.527_529del r.(?) p.(Lys176del) Unknown ACMG pathogenic g.1862759_1862761del g.1841529_1841531del c.527_529delAGA - TNNI2_000001 no variant 2nd chromosome PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - - - DNA SEQ - - DA D18-1716 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - 1 Gianina Ravenscroft
+/. - c.527_529del r.(?) p.(Lys176del) Unknown ACMG pathogenic g.1862759_1862761del g.1841529_1841531del c.527_529delAGA - TNNI2_000001 no variant 2nd chromosome PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - - - DNA SEQ - - DA D19-0754 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - 1 Gianina Ravenscroft
-?/. - c.540C>T r.(?) p.(=) Unknown - likely benign g.1862772C>T - TNNI2(NM_003282.4):c.540C>T (p.S180=) - SYT8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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