NM_000090.4(COL3A1):c.117T>G (p.Tyr39Ter) AND Ehlers-Danlos syndrome, type 4

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 11, 2023
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:: RCV002510237.1

Allele description [Variation Report for NM_000090.4(COL3A1):c.117T>G (p.Tyr39Ter)]

NM_000090.4(COL3A1):c.117T>G (p.Tyr39Ter)

Gene:

COL3A1:collagen type III alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q32.2

Genomic location:

Preferred name:

NM_000090.4(COL3A1):c.117T>G (p.Tyr39Ter)

HGVS:

NC_000002.12:g.188984797T>G
NG_007404.1:g.15425T>G
NM_000090.4:c.117T>GMANE SELECT
NP_000081.1:p.Tyr39Ter
NP_000081.2:p.Tyr39Ter
LRG_3t1:c.117T>G
LRG_3:g.15425T>G
LRG_3p1:p.Tyr39Ter
NC_000002.11:g.189849523T>G
NM_000090.3:c.117T>G

Protein change:

Y39*

Molecular consequence:

NM_000090.4:c.117T>G - nonsense - [Sequence Ontology: SO:0001587]

Functional consequence:

protein truncation [Variation Ontology: 0015]

Condition(s)

Name:: Ehlers-Danlos syndrome, type 4
Synonyms:: Ehlers-Danlos syndrome vascular type; Ehlers Danlos syndrome, ecchymotic type; Ehlers Danlos syndrome, arterial type; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0017314; MedGen: C0268338; Orphanet: 286; OMIM: 130050

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002819141	PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII	no assertion criteria provided	Pathogenic (Jan 11, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002819141

PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII

no assertion criteria provided

Pathogenic
(Jan 11, 2023)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII, SCV002819141.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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