NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs) AND Stickler syndrome type 1

Clinical significance:Pathogenic (Last evaluated: Mar 14, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000853283.1

Allele description [Variation Report for NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs)]

NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs)

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.2908_2909dup (p.Pro971fs)
HGVS:
  • NC_000012.12:g.47978385_47978386dup
  • NG_008072.1:g.31117_31118dup
  • NM_001844.5:c.2908_2909dupMANE SELECT
  • NM_033150.3:c.2701_2702dup
  • NP_001835.3:p.Pro971fs
  • NP_149162.2:p.Pro902fs
  • NC_000012.11:g.48372168_48372169dup
  • NM_001844.4:c.2908_2909dupCC
Protein change:
P902fs
Links:
dbSNP: rs1592202517
NCBI 1000 Genomes Browser:
rs1592202517
Molecular consequence:
  • NM_001844.5:c.2908_2909dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_033150.3:c.2701_2702dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Stickler syndrome type 1 (STL1)
Synonyms:
Stickler syndrome, vitreous type 1; Stickler syndrome, membranous vitreous type; Arthroophthalmopathy, hereditary progressive
Identifiers:
MONDO: MONDO:0007160; MedGen: C2020284; Orphanet: 828; OMIM: 108300

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000996117Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diegocriteria provided, single submitter
Pathogenic
(Mar 14, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not 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 Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego, SCV000996117.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

This frameshifting variant is predicted to generate a premature termination codon and have a loss-of-function effect. This variant has neither been observed in the ExAC or gnomAD population databases nor reported in the published literature to our knowledge. Based on the available evidence, this variant is classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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