NM_001844.5(COL2A1):c.2678dup (p.Ala895fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Sep 25, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001241102.2

Allele description [Variation Report for NM_001844.5(COL2A1):c.2678dup (p.Ala895fs)]

NM_001844.5(COL2A1):c.2678dup (p.Ala895fs)

Gene:
COL2A1:collagen type II alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12q13.11
Genomic location:
Preferred name:
NM_001844.5(COL2A1):c.2678dup (p.Ala895fs)
HGVS:
  • NC_000012.12:g.47980015dup
  • NG_008072.1:g.29493dup
  • NM_001844.5:c.2678dupMANE SELECT
  • NM_033150.3:c.2471dup
  • NP_001835.3:p.Ala895fs
  • NP_149162.2:p.Ala826fs
  • NC_000012.11:g.48373792_48373793insG
  • NC_000012.11:g.48373798dup
  • NM_001844.4:c.2678dup
  • NM_001844.5:c.2678dupCMANE SELECT
Protein change:
A826fs
Links:
dbSNP: rs1938958532
NCBI 1000 Genomes Browser:
rs1938958532
Molecular consequence:
  • NM_001844.5:c.2678dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_033150.3:c.2471dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001414096Invitaecriteria provided, single submitter
Pathogenic
(Sep 25, 2020)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea.

Yoon JM, Jang MA, Ki CS, Kim SJ.

Ann Lab Med. 2016 Mar;36(2):166-9. doi: 10.3343/alm.2016.36.2.166.

PubMed [citation]
PMID:
26709265
PMCID:
PMC4713851

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

Barat-Houari M, Dumont B, Fabre A, Them FT, Alembik Y, Alessandri JL, Amiel J, Audebert S, Baumann-Morel C, Blanchet P, Bieth E, Brechard M, Busa T, Calvas P, Capri Y, Cartault F, Chassaing N, Ciorca V, Coubes C, David A, Delezoide AL, Dupin-Deguine D, et al.

Eur J Hum Genet. 2016 Jul;24(7):992-1000. doi: 10.1038/ejhg.2015.250. Epub 2015 Dec 2.

PubMed [citation]
PMID:
26626311
PMCID:
PMC5070901
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001414096.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Ala895Serfs*49) in the COL2A1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Stickler syndrome and Kniest dysplasia (PMID: 20179744, 26709265, 26626311). ClinVar contains an entry for this variant (Variation ID: 966427). Loss-of-function variants in COL2A1 are known to be pathogenic (PMID: 20179744). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Nov 27, 2021

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