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NM_001844.5(COL2A1):c.3270_3273delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu1090fs) AND Stickler syndrome type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 21, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001526714.1

Allele description [Variation Report for NM_001844.5(COL2A1):c.3270_3273delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu1090fs)]

NM_001844.5(COL2A1):c.3270_3273delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu1090fs)

Gene:
COL2A1:collagen type II alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
12q13.11
Genomic location:
Preferred name:
NM_001844.5(COL2A1):c.3270_3273delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu1090fs)
HGVS:
  • NC_000012.12:g.47977320_47977323delinsCTCTGTCTCCTTGTCTCCTTGCTG
  • NG_008072.1:g.32180_32183delinsCAGCAAGGAGACAAGGAGACAGAG
  • NM_001844.5:c.3270_3273delinsCAGCAAGGAGACAAGGAGACAGAGMANE SELECT
  • NM_033150.3:c.3063_3066delinsCAGCAAGGAGACAAGGAGACAGAG
  • NP_001835.3:p.Glu1090fs
  • NP_149162.2:p.Glu1021fs
  • NC_000012.11:g.48371103_48371106delinsCTCTGTCTCCTTGTCTCCTTGCTG
  • NM_001844.5:c.3270_3273delAGCTinsCAGCAAGGAGACAAGGAGACAGAGMANE SELECT
Protein change:
E1021fs
Links:
dbSNP: rs2136521006
NCBI 1000 Genomes Browser:
rs2136521006
Molecular consequence:
  • NM_001844.5:c.3270_3273delinsCAGCAAGGAGACAAGGAGACAGAG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_033150.3:c.3063_3066delinsCAGCAAGGAGACAAGGAGACAGAG - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001737137DBGen Ocular Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 21, 2021) 		germlineclinical testing

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

Help

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 DBGen Ocular Genomics, SCV001737137.1

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

Last Updated: Dec 24, 2023