U.S. flag

An official website of the United States government

NM_000127.3(EXT1):c.1819G>T (p.Gly607Ter) AND Multiple congenital exostosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 20, 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:
RCV001227957.5

Allele description [Variation Report for NM_000127.3(EXT1):c.1819G>T (p.Gly607Ter)]

NM_000127.3(EXT1):c.1819G>T (p.Gly607Ter)

Gene:
EXT1:exostosin glycosyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.11
Genomic location:
Preferred name:
NM_000127.3(EXT1):c.1819G>T (p.Gly607Ter)
HGVS:
  • NC_000008.11:g.117807281C>A
  • NG_007455.2:g.309539G>T
  • NM_000127.3:c.1819G>TMANE SELECT
  • NP_000118.2:p.Gly607Ter
  • LRG_493t1:c.1819G>T
  • LRG_493:g.309539G>T
  • NC_000008.10:g.118819520C>A
  • NM_000127.2:c.1819G>T
Protein change:
G607*
Links:
dbSNP: rs1823253013
NCBI 1000 Genomes Browser:
rs1823253013
Molecular consequence:
  • NM_000127.3:c.1819G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Multiple congenital exostosis (EXT)
Synonyms:
MULTIPLE CARTILAGINOUS EXOSTOSES; Hereditary multiple osteochondromas; Multiple exostoses; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0005508; MedGen: C0015306; Orphanet: 321; OMIM: PS133700; Human Phenotype Ontology: HP:0002762

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001400337Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jun 20, 2023) 		germlineclinical testing

PubMed (4)
[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

Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.

Cheung PK, McCormick C, Crawford BE, Esko JD, Tufaro F, Duncan G.

Am J Hum Genet. 2001 Jul;69(1):55-66. Epub 2001 Jun 5.

PubMed [citation]
PMID:
11391482
PMCID:
PMC1226048
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001400337.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 955338). This variant has not been reported in the literature in individuals affected with EXT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly607*) in the EXT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EXT1 are known to be pathogenic (PMID: 10679937, 11391482, 19810120).

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

Last Updated: Sep 29, 2024