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NM_080680.3(COL11A2):c.2690del (p.Pro897fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 12, 2023
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:
RCV003738100.1

Allele description [Variation Report for NM_080680.3(COL11A2):c.2690del (p.Pro897fs)]

NM_080680.3(COL11A2):c.2690del (p.Pro897fs)

Gene:
COL11A2:collagen type XI alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p21.32
Genomic location:
Preferred name:
NM_080680.3(COL11A2):c.2690del (p.Pro897fs)
HGVS:
  • NC_000006.12:g.33173399del
  • NG_011589.1:g.24075del
  • NM_080679.3:c.2369del
  • NM_080680.3:c.2690delMANE SELECT
  • NM_080681.3:c.2432del
  • NP_542410.2:p.Pro790fs
  • NP_542411.2:p.Pro897fs
  • NP_542412.2:p.Pro811fs
  • NC_000006.11:g.33141171del
  • NC_000006.11:g.33141176del
  • NM_080680.2:c.2690del
Protein change:
P790fs
Links:
dbSNP: rs2150555528
NCBI 1000 Genomes Browser:
rs2150555528
Molecular consequence:
  • NM_080679.3:c.2369del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_080680.3:c.2690del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_080681.3:c.2432del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004554665Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Apr 12, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L.

Am J Hum Genet. 2000 Feb;66(2):368-77.

PubMed [citation]
PMID:
10677296
PMCID:
PMC1288089

A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.

Kayserili H, Wollnik B, Güven G, Emiroğlu MU, Başerer N, Uyguner ZO.

Am J Med Genet A. 2011 Jan;155A(1):180-5. doi: 10.1002/ajmg.a.33780.

PubMed [citation]
PMID:
21204229
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV004554665.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1334054). This variant has not been reported in the literature in individuals affected with COL11A2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro897Leufs*87) in the COL11A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL11A2 are known to be pathogenic (PMID: 10677296, 21204229).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024