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NM_000393.5(COL5A2):c.2968G>A (p.Gly990Arg) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 21, 2021
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:
RCV000483758.14

Allele description [Variation Report for NM_000393.5(COL5A2):c.2968G>A (p.Gly990Arg)]

NM_000393.5(COL5A2):c.2968G>A (p.Gly990Arg)

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.2968G>A (p.Gly990Arg)
HGVS:
  • NC_000002.12:g.189050640C>T
  • NG_011799.3:g.179662G>A
  • NM_000393.5:c.2968G>AMANE SELECT
  • NP_000384.2:p.Gly990Arg
  • LRG_738t1:c.2968G>A
  • LRG_738:g.179662G>A
  • LRG_738p1:p.Gly990Arg
  • NC_000002.11:g.189915366C>T
  • NG_011799.2:g.134240G>A
  • NM_000393.3:c.2968G>A
Protein change:
G990R
Links:
dbSNP: rs1040238147
NCBI 1000 Genomes Browser:
rs1040238147
Molecular consequence:
  • NM_000393.5:c.2968G>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
SCV000573632GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Sep 21, 2021) 		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, SCV000573632.7

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

Description

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; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Nov 3, 2024