NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jan 14, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000494511.2

Allele description [Variation Report for NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg)]

NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg)

Gene:
COL2A1:collagen type II alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.11
Genomic location:
Preferred name:
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg)
HGVS:
  • NC_000012.12:g.47995763C>T
  • NG_008072.1:g.13740G>A
  • NM_001844.5:c.655G>AMANE SELECT
  • NM_033150.3:c.448G>A
  • NP_001835.3:p.Gly219Arg
  • NP_149162.2:p.Gly150Arg
  • NC_000012.11:g.48389546C>T
  • NM_001844.4:c.655G>A
Protein change:
G150R
Links:
dbSNP: rs1131691822
NCBI 1000 Genomes Browser:
rs1131691822
Molecular consequence:
  • NM_001844.5:c.655G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033150.3:c.448G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000582924GeneDxcriteria provided, single submitter
Pathogenic
(Jan 14, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000582924.5

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

Description

Occurs in the triple helical domain and replaces the glycine in the canonical Gly-X-Y repeat; missense substitution of a canonical glycine residue is expected to disrupt normal protein folding and function, and this is an established mechanism of disease (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31827275)

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

Last Updated: Nov 27, 2021

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