NM_000090.3(COL3A1):c.2941G>C (p.Gly981Arg) AND Ehlers-Danlos syndrome, type 4

This record was updated by the submitter. Please see the current version.

Germline classification:: 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:: RCV000087375.1

Allele description

NM_000090.3(COL3A1):c.2941G>C (p.Gly981Arg)

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_000090.3(COL3A1):c.2941G>C (p.Gly981Arg)

HGVS:

NC_000002.12:g.189005359G>C
NG_007404.1:g.35987G>C
NM_000090.3:c.2941G>C
NP_000081.1:p.Gly981Arg
NP_000081.1:p.Gly981Arg
LRG_3t1:c.2941G>C
LRG_3:g.35987G>C
LRG_3p1:p.Gly981Arg
NC_000002.11:g.189870085G>C

Links:

dbSNP: rs587779449

NCBI 1000 Genomes Browser:

rs587779449

Molecular consequence:

NM_000090.3:c.2941G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Ehlers-Danlos syndrome, type 4 (EDSVASC)
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
SCV000120257	Collagen Diagnostic Laboratory,University of Washington	no assertion criteria provided	Pathogenic	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000120257

Collagen Diagnostic Laboratory,University of Washington

no assertion criteria provided

Pathogenic

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Collagen Diagnostic Laboratory,University of Washington, SCV000120257.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	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	confirm protein change		not provided	not provided	not provided	not provided

Last Updated: Sep 26, 2021

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