NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jan 13, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000726311.4

Allele description [Variation Report for NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter)]

NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter)

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.2794C>T (p.Arg932Ter)
Other names:
R732*
HGVS:
  • NC_000012.12:g.47978698G>A
  • NG_008072.1:g.30805C>T
  • NM_001844.5:c.2794C>TMANE SELECT
  • NM_033150.3:c.2587C>T
  • NP_001835.3:p.Arg932Ter
  • NP_149162.2:p.Arg863Ter
  • NC_000012.11:g.48372481G>A
  • NM_001844.4:c.2794C>T
Protein change:
R863*; ARG732TER
Links:
OMIM: 120140.0005; dbSNP: rs121912866
NCBI 1000 Genomes Browser:
rs121912866
Molecular consequence:
  • NM_001844.5:c.2794C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_033150.3:c.2587C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000343669Eurofins NTD, LLCcriteria provided, single submitter
Pathogenic
(Feb 23, 2018)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV001826062GeneDxcriteria provided, single submitter
Pathogenic
(Jan 13, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).

Ahmad NN, Ala-Kokko L, Knowlton RG, Jimenez SA, Weaver EJ, Maguire JI, Tasman W, Prockop DJ.

Proc Natl Acad Sci U S A. 1991 Aug 1;88(15):6624-7.

PubMed [citation]
PMID:
1677770
PMCID:
PMC52140

Details of each submission

From Eurofins NTD, LLC, SCV000343669.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001826062.1

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

Description

Reported in ClinVar as a pathogenic variant (ClinVar Variant ID# 17355; Landrum et al., 2016); Not observed in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 1677770, 26747767)

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

Last Updated: Dec 12, 2021

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