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NM_000393.5(COL5A2):c.3002G>C (p.Arg1001Pro) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 3, 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:
RCV003442304.1

Allele description [Variation Report for NM_000393.5(COL5A2):c.3002G>C (p.Arg1001Pro)]

NM_000393.5(COL5A2):c.3002G>C (p.Arg1001Pro)

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.3002G>C (p.Arg1001Pro)
HGVS:
  • NC_000002.12:g.189050606C>G
  • NG_011799.3:g.179696G>C
  • NM_000393.5:c.3002G>CMANE SELECT
  • NP_000384.2:p.Arg1001Pro
  • LRG_738t1:c.3002G>C
  • LRG_738:g.179696G>C
  • LRG_738p1:p.Arg1001Pro
  • NC_000002.11:g.189915332C>G
  • NM_000393.3:c.3002G>C
Protein change:
R1001P
Molecular consequence:
  • NM_000393.5:c.3002G>C - 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
SCV004169803GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(May 3, 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, SCV004169803.1

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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

Last Updated: Nov 25, 2023