NM_001844.5(COL2A1):c.2690G>T (p.Gly897Val) AND none provided

Clinical significance:Likely pathogenic (Last evaluated: Apr 16, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_001844.5(COL2A1):c.2690G>T (p.Gly897Val)]

NM_001844.5(COL2A1):c.2690G>T (p.Gly897Val)

COL2A1:collagen type II alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001844.5(COL2A1):c.2690G>T (p.Gly897Val)
  • NC_000012.12:g.47979554C>A
  • NG_008072.1:g.29949G>T
  • NM_001844.5:c.2690G>TMANE SELECT
  • NM_033150.3:c.2483G>T
  • NP_001835.3:p.Gly897Val
  • NP_149162.2:p.Gly828Val
  • NC_000012.11:g.48373337C>A
Protein change:
Molecular consequence:
  • NM_001844.5:c.2690G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033150.3:c.2483G>T - missense variant - [Sequence Ontology: SO:0001583]


none provided
MedGen: CN235283

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001474191ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely pathogenic
(Apr 16, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001474191.1

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


The COL2A1 c.2690G>T; p.Gly897Val variant, to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The glycine at codon 897 is highly conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. This variant disrupts the repeating Gly-X-Y sequence motif of the collagen triple helix and is predicted to impair collagen function (Barat-Houari 2016). Based on available information, this variant is considered to be likely pathogenic. References: Barat-Houari M et al. Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies. Hum Mutat. 2016 Jan;37(1):7-15.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 30, 2021

Support Center