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NM_001854.4(COL11A1):c.2656-28T>C AND Stickler syndrome type 2

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 22, 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:
RCV001582830.2

Allele description [Variation Report for NM_001854.4(COL11A1):c.2656-28T>C]

NM_001854.4(COL11A1):c.2656-28T>C

Gene:
COL11A1:collagen type XI alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p21.1
Genomic location:
Preferred name:
NM_001854.4(COL11A1):c.2656-28T>C
HGVS:
  • NC_000001.11:g.102978941A>G
  • NG_008033.2:g.134556T>C
  • NM_001190709.2:c.2539-28T>C
  • NM_001854.4:c.2656-28T>CMANE SELECT
  • NM_080629.3:c.2692-28T>C
  • NM_080630.4:c.2308-28T>C
  • NC_000001.10:g.103444497A>G
  • NM_001854.3:c.2656-28T>C
Links:
dbSNP: rs1903787
NCBI 1000 Genomes Browser:
rs1903787
Molecular consequence:
  • NM_001190709.2:c.2539-28T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001854.4:c.2656-28T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_080629.3:c.2692-28T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_080630.4:c.2308-28T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Stickler syndrome type 2 (STL2)
Synonyms:
STICKLER SYNDROME, TYPE II; Stickler syndrome, vitreous type 2; Stickler syndrome, beaded vitreous type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011493; MedGen: C1858084; Orphanet: 828; OMIM: 604841

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001821621Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 22, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot 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 Genome-Nilou Lab, SCV001821621.1

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

Last Updated: Sep 29, 2024