NM_000393.5(COL5A2):c.3490G>C (p.Gly1164Arg) AND Ehlers-Danlos syndrome, classic type, 2

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001089657.1

Allele description [Variation Report for NM_000393.5(COL5A2):c.3490G>C (p.Gly1164Arg)]

NM_000393.5(COL5A2):c.3490G>C (p.Gly1164Arg)

Gene:

COL5A2:collagen type V alpha 2 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q32.2

Genomic location:

Preferred name:

NM_000393.5(COL5A2):c.3490G>C (p.Gly1164Arg)

HGVS:

NC_000002.12:g.189042755C>G
NG_011799.3:g.187547G>C
NM_000393.5:c.3490G>CMANE SELECT
NP_000384.2:p.Gly1164Arg
LRG_738t1:c.3490G>C
LRG_738:g.187547G>C
LRG_738p1:p.Gly1164Arg
NC_000002.11:g.189907481C>G
NG_011799.2:g.142125G>C

Protein change:

G1164R

Links:

dbSNP: rs1685586746

NCBI 1000 Genomes Browser:

rs1685586746

Molecular consequence:

NM_000393.5:c.3490G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Ehlers-Danlos syndrome, classic type, 2 (EDSCL2)
Synonyms:: Ehlers-Danlos syndrome, type 2; Ehlers-Danlos syndrome type 2 (formerly)
Identifiers:: MONDO: MONDO:0019568; MedGen: C0268336; Orphanet: 287; Orphanet: 90318; OMIM: 130010

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001193452	Institute of Human Genetics, Cologne University	no assertion criteria provided	Likely pathogenic	paternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001193452

Institute of Human Genetics, Cologne University

no assertion criteria provided

Likely pathogenic

paternal

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	paternal	yes	3	1	not provided	not provided	not provided	clinical testing

Details of each submission

From Institute of Human Genetics, Cologne University, SCV001193452.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	yes	not provided	not provided	not provided		3	not provided	1	not provided

Last Updated: Aug 5, 2023

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