NM_080680.3(COL11A2):c.1666-11CCT[2] AND not specified

Clinical significance:Benign (Last evaluated: May 15, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000215727.1

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]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268895Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(May 15, 2015)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000268895.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

c.1666-11CCT[2] in intron 17 of COL11A2: This variant is not expected to have cl inical significance because it has been identified in 0.7% (67/9276) of African chromosomes, including to homozygote individuals, by the Exome Aggregation Cons ortium (ExAC, http://exac.broadinstitute.org; dbSNP rs147815324).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Jul 7, 2021

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