NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 1, 2019
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000999273.24

Allele description [Variation Report for NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln)]

NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln)

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.3398G>A (p.Arg1133Gln)

HGVS:

NC_000009.12:g.134809214G>A
NG_008030.1:g.172409G>A
NM_000093.5:c.3398G>AMANE SELECT
NM_001278074.1:c.3398G>A
NP_000084.3:p.Arg1133Gln
NP_000084.3:p.Arg1133Gln
NP_001265003.1:p.Arg1133Gln
LRG_737t1:c.3398G>A
LRG_737t2:c.3398G>A
LRG_737:g.172409G>A
LRG_737p1:p.Arg1133Gln
LRG_737p2:p.Arg1133Gln
NC_000009.11:g.137701060G>A
NM_000093.3:c.3398G>A
NM_000093.4:c.3398G>A

Protein change:

R1133Q

Links:

dbSNP: rs759580799

NCBI 1000 Genomes Browser:

rs759580799

Molecular consequence:

NM_000093.5:c.3398G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001278074.1:c.3398G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV001155823	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Apr 1, 2019)	germline	clinical testing	Citation Link,
SCV001801068	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 25, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001155823

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Apr 1, 2019)

germline

clinical testing

Citation Link,

SCV001801068

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Feb 25, 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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001155823.24

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

From GeneDx, SCV001801068.1

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

Description

Located in the the triple-helical region, in the X position of Gly-X-Y repeat (Symoens et al., 2012; Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported as a variant of uncertain significance in ClinVar but additional evidence is not available (SCV000631493.1; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 27975164)

#	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: Jul 15, 2024

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