NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu) AND Cardiovascular phenotype

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Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 4, 2017
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:: RCV000619358.1

Allele description

NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu)

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.2882C>T (p.Pro961Leu)

HGVS:

NC_000002.12:g.189051369G>A
NG_011799.2:g.133511C>T
NG_011799.3:g.178933C>T
NM_000393.5:c.2882C>TMANE SELECT
NP_000384.2:p.Pro961Leu
LRG_738t1:c.2882C>T
LRG_738:g.178933C>T
LRG_738p1:p.Pro961Leu
NC_000002.11:g.189916095G>A
NM_000393.3:c.2882C>T

Protein change:

P961L

Links:

dbSNP: rs778835151

NCBI 1000 Genomes Browser:

rs778835151

Molecular consequence:

NM_000393.5:c.2882C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

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Oxazoles
Oxazoles
Five-membered heterocyclic ring structures containing an oxygen in the 1-position and a nitrogen in the 3-position, in distinction from ISOXAZOLES where they are at the 1,2 po...<br/>

MeSH
A5 [Alcelaphine gammaherpesvirus 1]
A5 [Alcelaphine gammaherpesvirus 1]
gi|10140936|ref|NP_065513.1|

Protein
endonuclease II [Escherichia phage ST0]
endonuclease II [Escherichia phage ST0]
gi|1209838126|gb|ASD53861.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000738694	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (3/2017))	Uncertain significance (May 4, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000738694

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))

Uncertain significance
(May 4, 2017)

germline

clinical testing

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

Details of each submission

From Ambry Genetics, SCV000738694.3

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

Description

The p.P961L variant (also known as c.2882C>T), located in coding exon 42 of the COL5A2 gene, results from a C to T substitution at nucleotide position 2882. The proline at codon 961 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Oct 22, 2022

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