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NM_000093.5(COL5A1):c.1574G>A (p.Arg525Gln) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 30, 2023
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:
RCV000196460.12

Allele description [Variation Report for NM_000093.5(COL5A1):c.1574G>A (p.Arg525Gln)]

NM_000093.5(COL5A1):c.1574G>A (p.Arg525Gln)

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.1574G>A (p.Arg525Gln)
Other names:
p.R525Q:CGG>CAG
HGVS:
  • NC_000009.12:g.134750794G>A
  • NG_008030.1:g.113989G>A
  • NM_000093.5:c.1574G>AMANE SELECT
  • NM_001278074.1:c.1574G>A
  • NP_000084.3:p.Arg525Gln
  • NP_000084.3:p.Arg525Gln
  • NP_001265003.1:p.Arg525Gln
  • LRG_737t1:c.1574G>A
  • LRG_737t2:c.1574G>A
  • LRG_737:g.113989G>A
  • LRG_737p1:p.Arg525Gln
  • LRG_737p2:p.Arg525Gln
  • NC_000009.11:g.137642640G>A
  • NM_000093.3:c.1574G>A
  • NM_000093.4:c.1574G>A
Protein change:
R525Q
Links:
dbSNP: rs375762619
NCBI 1000 Genomes Browser:
rs375762619
Molecular consequence:
  • NM_000093.5:c.1574G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278074.1:c.1574G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000249896GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jan 30, 2023) 		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, SCV000249896.12

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

Description

Has not been previously reported as pathogenic or benign in association with connective tissue disease to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; HGMD); This variant is associated with the following publications: (PMID: 30467950)

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

Last Updated: Nov 3, 2024