NM_000393.5(COL5A2):c.4468G>A (p.Gly1490Ser) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 26, 2019
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:: RCV001586480.3

Allele description [Variation Report for NM_000393.5(COL5A2):c.4468G>A (p.Gly1490Ser)]

NM_000393.5(COL5A2):c.4468G>A (p.Gly1490Ser)

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.4468G>A (p.Gly1490Ser)

HGVS:

NC_000002.12:g.189034102C>T
NG_011799.3:g.196200G>A
NM_000393.5:c.4468G>AMANE SELECT
NP_000384.2:p.Gly1490Ser
LRG_738t1:c.4468G>A
LRG_738:g.196200G>A
LRG_738p1:p.Gly1490Ser
NC_000002.11:g.189898828C>T
NM_000393.3:c.4468G>A

Protein change:

G1490S

Links:

dbSNP: rs775322653

NCBI 1000 Genomes Browser:

rs775322653

Molecular consequence:

NM_000393.5:c.4468G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001812973	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 26, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001812973

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 26, 2019)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001812973.1

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

Description

Reported in an individual with an ascending aortic aneurysm in published literature (Ziganshin et al., 2015); although additional clinical details and segregation studies were not described; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; Stenson et al., 2014); This variant is associated with the following publications: (PMID: 26188975)

#	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: Sep 29, 2024

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