NM_000090.4(COL3A1):c.1831_1832del (p.Asn611fs) AND Ehlers-Danlos syndrome, type 4

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:: RCV000087391.2

Allele description [Variation Report for NM_000090.4(COL3A1):c.1831_1832del (p.Asn611fs)]

NM_000090.4(COL3A1):c.1831_1832del (p.Asn611fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2q32.2

Genomic location:

Preferred name:

NM_000090.4(COL3A1):c.1831_1832del (p.Asn611fs)

Other names:

NP_000081.1:p.Asn611Trpfs*2

HGVS:

NC_000002.12:g.188997351_188997352del
NG_007404.1:g.27979_27980del
NM_000090.4:c.1831_1832delMANE SELECT
NP_000081.1:p.Asn611fs
NP_000081.2:p.Asn611fs
LRG_3t1:c.1831_1832del
LRG_3:g.27979_27980del
LRG_3p1:p.Asn611fs
NC_000002.11:g.189862077_189862078del
NM_000090.3:c.1831_1832del

Protein change:

N611fs

Links:

dbSNP: rs587779462

NCBI 1000 Genomes Browser:

rs587779462

Molecular consequence:

NM_000090.4:c.1831_1832del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV000120275	Collagen Diagnostic Laboratory, University of Washington	no assertion criteria provided	Pathogenic	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 11577371, 21637106

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000120275

Collagen Diagnostic Laboratory, University of Washington

no assertion criteria provided

Pathogenic

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Citations

PubMed

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

Schwarze U, Schievink WI, Petty E, Jaff MR, Babovic-Vuksanovic D, Cherry KJ, Pepin M, Byers PH.

Am J Hum Genet. 2001 Nov;69(5):989-1001. Epub 2001 Sep 27.

PubMed [citation]

PMID:: 11577371
PMCID:: PMC1274375

COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy.

Leistritz DF, Pepin MG, Schwarze U, Byers PH.

Genet Med. 2011 Aug;13(8):717-22. doi: 10.1097/GIM.0b013e3182180c89.

PubMed [citation]

PMID:: 21637106

Details of each submission

From Collagen Diagnostic Laboratory, University of Washington, SCV000120275.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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: Jan 13, 2025

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