NM_000093.5(COL5A1):c.2088C>T (p.Pro696=) AND Cardiovascular phenotype

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Germline classification:: Likely benign (1 submission)
Last evaluated:: Mar 18, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000252097.3

Allele description

NM_000093.5(COL5A1):c.2088C>T (p.Pro696=)

Gene:

COL5A1:collagen type V alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

Preferred name:

NM_000093.5(COL5A1):c.2088C>T (p.Pro696=)

HGVS:

NC_000009.12:g.134765734C>T
NG_008030.1:g.128929C>T
NM_000093.5:c.2088C>TMANE SELECT
NM_001278074.1:c.2088C>T
NP_000084.3:p.Pro696=
NP_000084.3:p.Pro696=
NP_001265003.1:p.Pro696=
LRG_737t1:c.2088C>T
LRG_737t2:c.2088C>T
LRG_737:g.128929C>T
LRG_737p1:p.Pro696=
LRG_737p2:p.Pro696=
NC_000009.11:g.137657580C>T
NM_000093.3:c.2088C>T
NM_000093.4:c.2088C>T

Links:

dbSNP: rs146757272

NCBI 1000 Genomes Browser:

rs146757272

Molecular consequence:

NM_000093.5:c.2088C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001278074.1:c.2088C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000320551	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (2/2020))	Likely benign (Mar 18, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000320551

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (2/2020))

Likely benign
(Mar 18, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.

Symoens S, Syx D, Malfait F, Callewaert B, De Backer J, Vanakker O, Coucke P, De Paepe A.

Hum Mutat. 2012 Oct;33(10):1485-93. doi: 10.1002/humu.22137. Epub 2012 Jul 5.

PubMed [citation]

PMID:: 22696272

Details of each submission

From Ambry Genetics, SCV000320551.5

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

Description

In silico models in agreement (benign);Subpopulation frequency in support of benign classification

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

Last Updated: Nov 19, 2022

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