NM_001844.5(COL2A1):c.3165+2_3166-84del AND Stickler syndrome type 1

Clinical significance:Likely pathogenic (Last evaluated: Oct 20, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001269479.1

Allele description [Variation Report for NM_001844.5(COL2A1):c.3165+2_3166-84del]

NM_001844.5(COL2A1):c.3165+2_3166-84del

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.3165+2_3166-84del
HGVS:
  • NC_000012.12:g.47977511_47977598del
  • NG_008072.1:g.31905_31992del
  • NM_001844.5:c.3165+2_3166-84delMANE SELECT
  • NM_033150.3:c.2958+2_2959-84del
  • NC_000012.11:g.48371294_48371381del
  • NM_001844.4:c.3165+2_3166-84del
Links:
dbSNP: rs1938789358
NCBI 1000 Genomes Browser:
rs1938789358
Molecular consequence:
  • NM_001844.5:c.3165+2_3166-84del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_033150.3:c.2958+2_2959-84del - splice donor variant - [Sequence Ontology: SO:0001575]
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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001449493Undiagnosed Diseases Network,NIH - Undiagnosed Diseases Network (NIH), UDNcriteria provided, single submitter
Likely pathogenic
(Oct 20, 2020)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiansde novoyes11not 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 Undiagnosed Diseases Network,NIH - Undiagnosed Diseases Network (NIH), UDN, SCV001449493.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasians1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providedbloodnot provided1not provided1not provided

Last Updated: Nov 27, 2021

Support Center