NM_080680.3(COL11A2):c.1666-11CCT[2] AND Otospondylomegaepiphyseal dysplasia, autosomal recessive

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000312194.1

Allele description [Variation Report for NM_080680.3(COL11A2):c.1666-11CCT[2]]

NM_080680.3(COL11A2):c.1666-11CCT[2]

Gene:
COL11A2:collagen type XI alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
6p21.32
Genomic location:
Preferred name:
NM_080680.3(COL11A2):c.1666-11CCT[2]
HGVS:
  • NC_000006.11:g.33146512_33146514del
  • NC_000006.12:g.33178736_33178738GGA[2]
  • NG_011589.1:g.18726_18728CCT[2]
  • NM_080679.2:c.1345-11CCT[2]
  • NM_080680.3:c.1666-11CCT[2]MANE SELECT
  • NM_080681.3:c.1408-11CCT[2]
  • NC_000006.11:g.33146512_33146514del
  • NC_000006.11:g.33146512_33146514delAGG
  • NC_000006.11:g.33146513_33146515GGA[2]
  • NM_080680.2:c.1666-5_1666-3delCCT
Links:
dbSNP: rs147815324
NCBI 1000 Genomes Browser:
rs147815324
Molecular consequence:
  • NM_080679.2:c.1345-11CCT[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_080680.3:c.1666-11CCT[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_080681.3:c.1408-11CCT[2] - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Otospondylomegaepiphyseal dysplasia, autosomal recessive (OSMEDB)
Synonyms:
Nance-Insley syndrome; Nance Sweeney chondrodysplasia; Chondrodystrophy with sensorineural deafness; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0044206; MedGen: C4520892; Orphanet: 1427; OMIM: 215150

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000462511Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000462511.2

#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: Sep 18, 2021

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