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NM_080680.3(COL11A2):c.966dup (p.Thr323fs) AND Ear malformation

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 10, 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:
RCV001814194.2

Allele description [Variation Report for NM_080680.3(COL11A2):c.966dup (p.Thr323fs)]

NM_080680.3(COL11A2):c.966dup (p.Thr323fs)

Gene:
COL11A2:collagen type XI alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6p21.32
Genomic location:
Preferred name:
NM_080680.3(COL11A2):c.966dup (p.Thr323fs)
HGVS:
  • NC_000006.12:g.33184297_33184298insG
  • NC_000006.12:g.33184304dup
  • NG_011589.1:g.13171dup
  • NM_080679.3:c.798+2329dup
  • NM_080680.3:c.966dupMANE SELECT
  • NM_080681.3:c.861+694dup
  • NP_542411.2:p.Thr323fs
  • NC_000006.11:g.33152074_33152075insG
  • NC_000006.11:g.33152081dup
  • NM_080680.2:c.966dup
  • NM_080680.2:c.966dupC
  • NM_080680.3:c.966dupCMANE SELECT
Protein change:
T323fs
Links:
dbSNP: rs748440351
NCBI 1000 Genomes Browser:
rs748440351
Molecular consequence:
  • NM_080680.3:c.966dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_080679.3:c.798+2329dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_080681.3:c.861+694dup - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
mutation affecting reading frame [Sequence Ontology: SO:1000064]

Condition(s)

Name:
Ear malformation
Synonyms:
CUP EAR; Abnormality of the ear
Identifiers:
MONDO: MONDO:0007500; MedGen: C0266589; OMIM: 128600; Human Phenotype Ontology: HP:0000598

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001755264Kariminejad - Najmabadi Pathology & Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 10, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Kariminejad - Najmabadi Pathology & Genetics Center, SCV001755264.1

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

Last Updated: May 19, 2024