Full data view for gene CAV3

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_033337.2 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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     
?/. 2 c.233C>T r.(?) p.(Thr78Met) Parent #1 - VUS g.8787330C>T g.8745644C>T - - CAV3_000030 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Italy - - - - - 1 Andrea Nuccitelli
+/. 2 c.233C>T r.(?) p.(Thr78Met) Parent #1 - pathogenic g.8787330C>T g.8745644C>T - - CAV3_000030 - PubMed: Reijneveld 2006 - - Germline - - - - - DNA SEQ - - hCK - PubMed: Reijneveld 2006 - ? - Netherlands - - - - - 1 Johan den Dunnen
+/. 2 c.233C>T r.(?) p.(Thr78Met) Parent #1 - pathogenic g.8787330C>T g.8745644C>T - - CAV3_000030 not in 1000 control chromosomes PubMed: Vatta 2006, OMIM:var0018 - - Germline - - - - - DNA DHPLC - - LQT - PubMed: Vatta 2006, OMIM:var0018 QTc 405ms; ECG U waves, sinus bradycardia F - United States white - - - - 1 Johan den Dunnen
+/. 2 c.233C>T r.(?) p.(Thr78Met) Parent #1 - pathogenic g.8787330C>T g.8745644C>T - - CAV3_000030 not in 1000 control chromosomes PubMed: Vatta 2006, OMIM:var0018 - - Germline - - - - - DNA DHPLC - - LQT - PubMed: Vatta 2006, OMIM:var0018 QTc 433ms; ECG marked sinus bradycardia M - United States African - - - - 1 Johan den Dunnen
+/. 2 c.233C>T r.(?) p.(Thr78Met) Parent #1 - pathogenic g.8787330C>T g.8745644C>T - - CAV3_000030 not in 1000 control chromosomes PubMed: Vatta 2006, OMIM:var0018 - - Germline - - - - - DNA DHPLC - - LQT - PubMed: Vatta 2006, OMIM:var0018 QTc 456ms M - United States white - - - - 1 Johan den Dunnen
+/. 2 c.233C>T r.(?) p.(Thr78Met) Parent #1 - pathogenic g.8787330C>T g.8745644C>T - - CAV3_000030 not in 400 control chromosomes PubMed: Cronck 2007 - - Germline - - - - - DNA DHPLC, SEQ - - SIDS - PubMed: Cronck 2007 - F - United States African 2m - - - 1 Johan den Dunnen
?/. 2 c.233C>T r.(?) p.(Thr78Met) Parent #1 - VUS g.8787330C>T g.8745644C>T - - CAV3_000030 - PubMed: Arnestad 2007 - - Germline - - - - - DNA DHPLC - - Healthy/Control - PubMed: Arnestad 2007 - - - Norway - - - - - 1 Johan den Dunnen
+/. 2 c.233C>T r.(?) p.(Thr78Met) Parent #1 - pathogenic g.8787330C>T g.8745644C>T - - CAV3_000030 - PubMed: Arnestad 2007 - - Germline - - - - - DNA DHPLC - - SIDS - PubMed: Arnestad 2007 - - - Norway - - - - - 1 Johan den Dunnen
+/. 2 c.233C>T r.(?) p.(Thr78Met) Parent #1 - pathogenic g.8787330C>T g.8745644C>T - - CAV3_000030 - PubMed: Arnestad 2007 - - Germline - - - - - DNA DHPLC - - SIDS - PubMed: Arnestad 2007 - - - Norway - - - - - 1 Johan den Dunnen
+/. 2 c.233C>T r.(?) p.(Thr78Met) Parent #1 - pathogenic g.8787330C>T g.8745644C>T - - CAV3_000030 control chromosomes PubMed: Reijneveld 2006 - - Germline - 0/100 - - - DNA SEQ - - Healthy/Control - PubMed: Reijneveld 2006 - - - Netherlands - - - - - 1 Johan den Dunnen
+/. 2 c.233C>T r.(?) p.(Thr78Met) Both (homozygous) - pathogenic g.8787330C>T g.8745644C>T - - CAV3_000030 - PubMed: Traverso 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Traverso 2008 affected mother, unaffected carrier daugther F yes Italy - >58y - - - 1 Johan den Dunnen
?/. 2 c.233C>T r.(?) p.(Thr78Met) Parent #1 - VUS g.8787330C>T g.8745644C>T - - CAV3_000030 detected in 1/248 patients; carries KCNH2:p.(Ile400Asn) P.Hedley ASHG 2010 A671 - - Germline - 1/496 - - - DNA SEQ - - LQT - P.Hedley ASHG 2010 A671 relative of ASHG2010-A671b ? - - - - - - - 1 Johan den Dunnen
?/. 2 c.233C>T r.(?) p.(Thr78Met) Parent #1 - VUS g.8787330C>T g.8745644C>T - - CAV3_000030 - P.Hedley ASHG 2010 A671 - - Germline - - - - - DNA SEQ - - ? - P.Hedley ASHG 2010 A671 relative of ASHG2010-A671 ? - - - - - - - 1 Johan den Dunnen
+/. 2 c.233C>T r.(?) p.(Thr78Met) Parent #1 - pathogenic g.8787330C>T g.8745644C>T - - CAV3_000030 carries 8-unit D4Z4 allele PubMed: Ricci 2012 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Ricci 2012 3-generation family M - Italy - - - - - 1 Johan den Dunnen
?/. 2 c.233C>T r.(?) p.Thr78Met Unknown - NA g.8787330C>T g.8745644C>T - - CAV3_000030 expression cloning COS7-cells, CAV3 expression normal, correctly targeted PubMed: Traverso 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.233C>T r.(?) p.(Thr78Met) Parent #1 - pathogenic g.8787330C>T g.8745644C>T - - CAV3_000030 - PubMed: Cecconi 2016, Journal: Cecconi 2016 - - Germline - reads 0.49 - - - DNA SEQ-NG-I - - CMH Pat834 PubMed: Cecconi 2016, Journal: Cecconi 2016 - F - Italy - - - - - 1 Domenico Coviello
-/. - c.233C>T r.(?) p.(Thr78Met) Unknown - benign g.8787330C>T g.8745644C>T CAV3(NM_001234.3):c.233C>T (p.(Thr78Met)), CAV3(NM_033337.2):c.233C>T (p.T78M), CAV3(NM_033337.3):c.233C>T (p.T78M) - CAV3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.233C>T r.(?) p.(Thr78Met) Unknown - likely benign g.8787330C>T g.8745644C>T CAV3(NM_001234.3):c.233C>T (p.(Thr78Met)), CAV3(NM_033337.2):c.233C>T (p.T78M), CAV3(NM_033337.3):c.233C>T (p.T78M) - CAV3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.233C>T r.(?) p.(Thr78Met) Unknown - benign g.8787330C>T g.8745644C>T CAV3(NM_001234.3):c.233C>T (p.(Thr78Met)), CAV3(NM_033337.2):c.233C>T (p.T78M), CAV3(NM_033337.3):c.233C>T (p.T78M) - CAV3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.233C>T r.(?) p.(Thr78Met) Unknown - benign g.8787330C>T g.8745644C>T CAV3(NM_001234.3):c.233C>T (p.(Thr78Met)), CAV3(NM_033337.2):c.233C>T (p.T78M), CAV3(NM_033337.3):c.233C>T (p.T78M) - CAV3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.233C>T r.(?) p.Thr78Met Unknown ACMG VUS g.8787330C>T g.8745644C>T - - CAV3_000030 Vatta ; 2006. Circulation 114: 2104 T78M in 3 probands with a family history of LQTS, with 1 proband also possessing a published LQT2-associated KCNH2 mutation (A913V) Cronk ; 2007. Heart Rhythm 4: 161 cohort of 134 sudden infant deaths; T78M identified in a 2-month-old black female; funct. test: T78M caused a significant five-fold increase in late sodium current compared to controls Traverso ; 2008. Lab Invest 88: 275 identified homozygous in a patient affected by dilated cardiomyopathy and limb girdle muscular dystrophy (LGMD)-1C; heterozygous daugther asymptomatic; WT and Cav-3 T78M mutant protein localized at the plasma membrane, Cav-3 T78M protein levels were unchanged Scalco ; 2016. Neuromuscul Disord 26: 504 patients with exercise intolerance, myalgia and rhabdomyolysis; heterozygous p.T78M detected in 4 patients; normalcaveolin-3 immunostaining but reduced caveolin-3 protein levels on WB. - - rs72546668 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
?/. 2 c.233C>T r.(?) p.(Thr78Met) Parent #1 - VUS g.8787330C>T g.8745644C>T - - CAV3_000030 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.233C>T r.(?) p.(Thr78Met) Parent #1 - VUS g.8787330C>T g.8745644C>T - - CAV3_000030 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.233C>T r.(?) p.Thr78Met Unknown ACMG benign g.8787330C>T g.8745644C>T - - CAV3_000030 ACMG grading: BP5,BS2,BS1; reported in Vatta 2006. Circulation 114: 2104; Cronk 2007. Heart Rhythm 4: 161; Traverso 2008. Lab Invest 88: 275; Scalco 2016. Neuromuscul Disord 26: 504 - - rs72546668 Germline - - - - - DNA SEQ-NG-S - - - - - - M - - - - - - - 1 Andreas Laner
+/. - c.233C>T r.(?) p.(Thr78Met) Unknown - pathogenic (!) g.8787330C>T g.8745644C>T - - CAV3_000030 possible reduced penetrance, the variant has a dominant effect in the patient but the carrier father is healthy - - rs72546668 Germline - - - - - DNA SEQ-NG - - RMD2;LGMD1C - - 2 generation family (1F), unaffected heterozygous father F no Greece - 45y - - - 1 Helen Latsoudis
?/. - c.233C>T r.(?) p.(Thr78Met) Unknown - VUS g.8787330C>T - CAV3(NM_001234.3):c.233C>T (p.(Thr78Met)), CAV3(NM_033337.2):c.233C>T (p.T78M), CAV3(NM_033337.3):c.233C>T (p.T78M) - CAV3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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