NM_001844.5(COL2A1):c.2381del (p.Pro794fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Sep 24, 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:
RCV001269590.3

Allele description [Variation Report for NM_001844.5(COL2A1):c.2381del (p.Pro794fs)]

NM_001844.5(COL2A1):c.2381del (p.Pro794fs)

Gene:
COL2A1:collagen type II alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q13.11
Genomic location:
Preferred name:
NM_001844.5(COL2A1):c.2381del (p.Pro794fs)
HGVS:
  • NC_000012.12:g.47981809del
  • NG_008072.1:g.27699del
  • NM_001844.5:c.2381delMANE SELECT
  • NM_033150.3:c.2174del
  • NP_001835.3:p.Pro794fs
  • NP_149162.2:p.Pro725fs
  • NC_000012.11:g.48375592del
  • NM_001844.4:c.2381del
  • NM_001844.4:c.2381delC
Protein change:
P725fs
Links:
dbSNP: rs1555166218
NCBI 1000 Genomes Browser:
rs1555166218
Molecular consequence:
  • NM_001844.5:c.2381del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_033150.3:c.2174del - frameshift variant - [Sequence Ontology: SO:0001589]
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
SCV001449684Clinical Genetics Karolinska University Hospital,Karolinska University Hospitalcriteria provided, single submitter
Pathogenic
(Sep 6, 2017)
germlineclinical testing

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

SCV001826466GeneDxcriteria provided, single submitter
Pathogenic
(Sep 24, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Clinical Genetics Karolinska University Hospital,Karolinska University Hospital, SCV001449684.1

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

From GeneDx, SCV001826466.1

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

Description

Reported in ClinVar as a pathogenic variant but additional evidence is not available (ClinVar Variant ID# 547258; Landrum et al., 2016); Frameshift 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: 10486316)

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

Last Updated: Jan 15, 2022

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