U.S. flag

An official website of the United States government

NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly) AND Otospondylomegaepiphyseal dysplasia, autosomal dominant

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000384306.5

Allele description [Variation Report for NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly)]

NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly)

Gene:
COL11A2:collagen type XI alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.32
Genomic location:
Preferred name:
NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly)
HGVS:
  • NC_000006.12:g.33192236T>C
  • NG_011589.1:g.5233A>G
  • NG_023374.1:g.13420A>G
  • NM_001163771.2:c.5A>G
  • NM_080679.3:c.5A>G
  • NM_080680.3:c.5A>GMANE SELECT
  • NM_080681.3:c.5A>G
  • NP_001157243.1:p.Glu2Gly
  • NP_542410.2:p.Glu2Gly
  • NP_542411.2:p.Glu2Gly
  • NP_542411.2:p.Glu2Gly
  • NP_542412.2:p.Glu2Gly
  • NC_000006.11:g.33160013T>C
  • NM_080680.2:c.5A>G
Protein change:
E2G
Links:
dbSNP: rs568840295
NCBI 1000 Genomes Browser:
rs568840295
Molecular consequence:
  • NM_001163771.2:c.5A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080679.3:c.5A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080680.3:c.5A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080681.3:c.5A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Otospondylomegaepiphyseal dysplasia, autosomal dominant (OSMEDA)
Synonyms:
Stickler syndrome, type 3; Stickler syndrome nonocular type; Weissenbacher-Zweymuller syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008490; MedGen: C1848488; Orphanet: 3450; OMIM: 184840

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000462607Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Likely benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000462607.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 25, 2025