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NM_000093.5(COL5A1):c.6C>G (p.Asp2Glu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 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:
RCV000479742.2

Allele description [Variation Report for NM_000093.5(COL5A1):c.6C>G (p.Asp2Glu)]

NM_000093.5(COL5A1):c.6C>G (p.Asp2Glu)

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.6C>G (p.Asp2Glu)
HGVS:
  • NC_000009.12:g.134642193C>G
  • NG_008030.1:g.5388C>G
  • NM_000093.5:c.6C>GMANE SELECT
  • NM_001278074.1:c.6C>G
  • NP_000084.3:p.Asp2Glu
  • NP_001265003.1:p.Asp2Glu
  • LRG_737t2:c.6C>G
  • LRG_737:g.5388C>G
  • LRG_737p2:p.Asp2Glu
  • NC_000009.11:g.137534039C>G
  • NM_000093.3:c.6C>G
Protein change:
D2E
Links:
dbSNP: rs1064796482
NCBI 1000 Genomes Browser:
rs1064796482
Molecular consequence:
  • NM_000093.5:c.6C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278074.1:c.6C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000573253GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Oct 4, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000573253.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

A variant of uncertain significance has been identified in the COL5A1 gene. The D2E variant has not been published as pathogenic or been reported as benign to our knowledge. No data are available from control populations to assess the frequency of this variant. However, the D2E variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is only conserved in mammals and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Finally, the D2E variant does not affect a Glycine residue in a Gly-X-Y motif in the triple helical region of the COL5A1 gene, where the majority of pathogenic missense variants occur (Stenson et al., 2014; Symoens et al., 2012).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022