Full data view for gene COL5A1

Ehlers Danlos Syndrome Variant Database


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

14 entries on 1 page. Showing entries 1 - 14.
Legend   How to query  

Effect     
Exon     
AscendingDNA change (cDNA)     
RNA change     
Protein     
Predicted     
Type/DNA     
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.1588G>A r.(?) p.(Gly530Ser) missense substitution Both (homozygous) - likely benign g.137642654G>A g.134750808G>A - - COL5A1_000026 - PubMed: Papuc et al., 2019 - rs61735045 Germline - - - - - DNA SEQ-NG-I blood WES EE 59248 - - F - - - - - - - 1 Anaïs Begemann
-?/. - c.1588G>A r.(?) p.(Gly530Ser) - - Unknown - likely benign g.137642654G>A g.134750808G>A COL5A1(NM_000093.4):c.1588G>A (p.G530S, p.(Gly530Ser)), COL5A1(NM_000093.5):c.1588G>A (p.G530S) - COL5A1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1588G>A r.(?) p.(Gly530Ser) - - Unknown - likely benign g.137642654G>A g.134750808G>A COL5A1(NM_000093.4):c.1588G>A (p.G530S, p.(Gly530Ser)), COL5A1(NM_000093.5):c.1588G>A (p.G530S) - COL5A1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 13 c.1588G>A r.(?) p.(Gly530Ser) missense deletion Maternal (confirmed) - likely pathogenic (maternal) g.137642654G>A g.134750808G>A - - COL5A1_000026 - PubMed: Errichiello et al., 2021 ClinVar-38863 rs61735045 Germline yes 0.02356 (A) - - - DNA, RNA, protein expr, PCRq, RT-PCR, SEQ, SEQ-NG-I, Western Peripheral blood, fibroblasts WES (whole exome sequencing) EDS patient PubMed: Errichiello 2021 2-generation family, 1 affected (M), unaffected heterozygous carrier parents/relatives M no Italy white 22y - yes - 1 Edoardo Errichiello
+/-? 13 c.1588G>A r.(?) p.(Gly530Ser) missense substitution Unknown - VUS g.137642654G>A - - - COL5A1_000026 - PubMed: Malfait et al., 2005 - rs61735045 Unknown - - - - - DNA, RNA DHPLC, PCR, RT-PCR, SEQ, CSGE, SSCA - - EDS, EDSCL1 - PubMed: Malfait et al., 2005 This variant is recorded in {dbSNP61735045} and in other variant databases at a frequency suggesting that it is not disease-causing. - - - - - - - - 1 Sofie Symoens
+/-? 13 c.1588G>A r.(?) p.(Gly530Ser) missense substitution Unknown - VUS g.137642654G>A - - - COL5A1_000026 - PubMed: Malfait et al., 2005 - rs61735045 Unknown - - - - - DNA, RNA DHPLC, PCR, RT-PCR, SEQ, CSGE, SSCA - - EDS, EDSCL1 - PubMed: Malfait et al., 2005 The duplication variant in this patient is incorrectly described as an insertion (c.3450_3451insT) and the resulting frameshift is also incorrectly described as p.P1151fsX47. The c.1588G>A variant is recorded in {dbSNP61735045} and in other variant databases at a frequency suggesting that it is not disease-causing. - - - - - - - - 1 Sofie Symoens
+/-? 13 c.1588G>A r.(?) p.(Gly530Ser) missense substitution Unknown - VUS g.137642654G>A - - - COL5A1_000026 - PubMed: Malfait et al., 2005 - rs61735045 Unknown - - - - - DNA, RNA DHPLC, PCR, RT-PCR, SEQ, CSGE, SSCA - - EDS, EDSCL1 - PubMed: Malfait et al., 2005 The c.1588G>A variant is recorded in {dbSNP61735045} and in other variant databases at a frequency suggesting that it is not disease-causing. - - - - - - - - 1 Sofie Symoens
+/-? 13 c.1588G>A r.(?) p.(Gly530Ser) missense substitution Unknown - VUS g.137642654G>A - - - COL5A1_000026 - PubMed: Malfait et al., 2005 - rs61735045 Unknown - - - - - DNA, RNA DHPLC, PCR, RT-PCR, SEQ, CSGE, SSCA - - EDS, EDSCL1 - PubMed: Malfait et al., 2005 The c.1588G>A variant is recorded in {dbSNP61735045} and in other variant databases at a frequency suggesting that it is not disease-causing.The splice site variant results in skipping of exon 3 which results in a frameshift. - - - - - - - - 1 Sofie Symoens
-?/-? 13 c.1588G>A r.(?) p.(Gly530Ser) missense substitution Maternal (confirmed) - benign g.137642654G>A - - - COL5A1_000026 - PubMed: Giunta et al., 2000 - rs61735045 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ, NUC - - EDS, EDSCL1 - PubMed: Giunta et al., 2000 The patient's mother and daughter, both of whom are unaffected, each harbour the p.Gly530Ser variant, suggesting that the variant is not disease-causing. However, the variant may modify the disease phenotype.The c.1588G>A (p.Gly530Ser) variant is recorded in {dbSNP61735045}The technique used was ribonuclease T1 analysis (RNaseT1). The technique used was ribonuclease A analysis (RNaseA). - - - - - - - - 1 Raymond Dalgleish
+?/? 13 c.1588G>A r.(?) p.(Gly530Ser) missense substitution Unknown - VUS g.137642654G>A - - - COL5A1_000026 - PubMed: Kiss et al., 2018 - rs61735045 Unknown - - - - - DNA SEQ-NG - - EDS, EDSCL1 Patient 1 PubMed: Kiss et al., 2018 The patient's daughter carries the same variant, which co-segregated with her similar cEDS phenotype. There is contradictory data on the causality of this variant. It is found in 5% of both cEDS patients and healthy controls. The technique used was the custom NGS Gene panel. - - - - - - - - 1 Raymond Dalgleish
-/- 13 c.1588G>A r.(?) p.(Gly530Ser) missense substitution Unknown - likely benign g.137642654G>A - - - COL5A1_000026 - PubMed: Barbato et al., 2018 - rs61735045 Unknown - - - - - DNA SEQ-NG - - ? III:6 PubMed: Barbato et al., 2018 Index patient (16F) and her family were affected by maxillary canine anomalies, including agenesis, impaction and ectopic eruption. The technique used was whole exome sequencing. - - - - - - - - 1 Raymond Dalgleish
-?/. - c.1588G>A r.(?) p.(Gly530Ser) - - Unknown - likely benign g.137642654G>A - COL5A1(NM_000093.4):c.1588G>A (p.G530S, p.(Gly530Ser)), COL5A1(NM_000093.5):c.1588G>A (p.G530S) - COL5A1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1588G>A r.(?) p.(Gly530Ser) - - Unknown - likely benign g.137642654G>A - COL5A1(NM_000093.4):c.1588G>A (p.G530S, p.(Gly530Ser)), COL5A1(NM_000093.5):c.1588G>A (p.G530S) - COL5A1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/-? 13 c.1588G>A r.(?) p.(Gly530Ser) missense substitution Both (homozygous) - VUS g.137642654G>A - - - COL5A1_000026 - PubMed: Giunta et al., 2002 - rs61735045 Unknown - - - - - DNA, RNA PCR, RT-PCR, SEQ, CSGE, SSCA - - EDS, EDSCL1 - PubMed: Giunta et al., 2002 In a previous article by the same authors (PubMed: Giunta et al., 2000), the p.Gly530Ser variant was described as disease-modifying in the heterozygous state. In this study, in which the parents were first cousins, the authors suggest that the homozygous state is disease causing. However, the c.1588G>A variant is recorded in {dbSNP61735045} and in other variant databases at a frequency suggesting that it is not disease-causing. - - Turkey Turkish - - - - 1 Raymond Dalgleish
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.