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NM_207122.2(EXT2):c.960del (p.Leu321fs) AND Exostoses, multiple, type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 14, 2019
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:
RCV001210746.8

Allele description [Variation Report for NM_207122.2(EXT2):c.960del (p.Leu321fs)]

NM_207122.2(EXT2):c.960del (p.Leu321fs)

Gene:
EXT2:exostosin glycosyltransferase 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_207122.2(EXT2):c.960del (p.Leu321fs)
HGVS:
  • NC_000011.10:g.44126836del
  • NG_007560.1:g.36288del
  • NM_000401.3:c.1059del
  • NM_001178083.3:c.960del
  • NM_001389628.1:c.960del
  • NM_001389630.1:c.960del
  • NM_207122.2:c.960delMANE SELECT
  • NP_000392.3:p.Leu354fs
  • NP_001171554.1:p.Leu321fs
  • NP_001376557.1:p.Leu321fs
  • NP_001376559.1:p.Leu321fs
  • NP_997005.1:p.Leu321fs
  • LRG_494t1:c.1059del
  • LRG_494t2:c.960del
  • LRG_494:g.36288del
  • LRG_494p1:p.Leu354fs
  • NC_000011.9:g.44148385del
  • NC_000011.9:g.44148386del
  • NM_207122.1:c.960del
Protein change:
L321fs
Links:
dbSNP: rs1954412043
NCBI 1000 Genomes Browser:
rs1954412043
Molecular consequence:
  • NM_000401.3:c.1059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001178083.3:c.960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001389628.1:c.960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001389630.1:c.960del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_207122.2:c.960del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Exostoses, multiple, type 2 (EXT2)
Synonyms:
EXOSTOSES, MULTIPLE, TYPE II
Identifiers:
MONDO: MONDO:0007586; MedGen: C1851413; Orphanet: 321; OMIM: 133701

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001382247Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 14, 2019) 		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

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.

Wuyts W, Van Hul W.

Hum Mutat. 2000;15(3):220-7. Review.

PubMed [citation]
PMID:
10679937

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).

Jennes I, Pedrini E, Zuntini M, Mordenti M, Balkassmi S, Asteggiano CG, Casey B, Bakker B, Sangiorgi L, Wuyts W.

Hum Mutat. 2009 Dec;30(12):1620-7. doi: 10.1002/humu.21123. Review.

PubMed [citation]
PMID:
19810120
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001382247.5

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

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EXT2 are known to be pathogenic (PMID: 10679937, 19810120). This nonsense change has been observed in individual(s) affected with multiple osteochondromas (PMID: 19810120). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu321Phefs*11) in the EXT2 gene. It is expected to result in an absent or disrupted protein product.

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

Last Updated: Sep 29, 2024