NM_000127.3(EXT1):c.1016G>A (p.Gly339Asp) AND Exostoses, multiple, type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 1998
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001003501.2

Allele description [Variation Report for NM_000127.3(EXT1):c.1016G>A (p.Gly339Asp)]

NM_000127.3(EXT1):c.1016G>A (p.Gly339Asp)

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.1016G>A (p.Gly339Asp)

HGVS:

NC_000008.11:g.117837148C>T
NG_007455.2:g.279672G>A
NM_000127.3:c.1016G>AMANE SELECT
NP_000118.2:p.Gly339Asp
NP_000118.2:p.Gly339Asp
LRG_493t1:c.1016G>A
LRG_493:g.279672G>A
LRG_493p1:p.Gly339Asp
NC_000008.10:g.118849387C>T
NM_000127.2:c.1016G>A
Q16394:p.Gly339Asp

Protein change:

G339D; GLY339ASP

Links:

UniProtKB: Q16394#VAR_002372; OMIM: 608177.0007; dbSNP: rs119103288

NCBI 1000 Genomes Browser:

rs119103288

Molecular consequence:

NM_000127.3:c.1016G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Exostoses, multiple, type 1 (EXT1)
Synonyms:: EXOSTOSES, MULTIPLE, TYPE I
Identifiers:: MONDO: MONDO:0007585; MedGen: CN263289; OMIM: 133700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000022762	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 1998)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 9326317, 9620772

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000022762

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 1998)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.

Philippe C, Porter DE, Emerton ME, Wells DE, Simpson AH, Monaco AP.

Am J Hum Genet. 1997 Sep;61(3):520-8.

PubMed [citation]

PMID:: 9326317
PMCID:: PMC1715939

The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate.

McCormick C, Leduc Y, Martindale D, Mattison K, Esford LE, Dyer AP, Tufaro F.

Nat Genet. 1998 Jun;19(2):158-61.

PubMed [citation]

PMID:: 9620772

Details of each submission

From OMIM, SCV000022762.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a family with multiple exostoses type I (EXT1; 133700), Philippe et al. (1997) identified a gly339-to-asp (G339D) missense mutation in exon 2 of the EXT1 gene.

McCormick et al. (1998) showed that the G339D missense mutation abrogates heparan sulfate biosynthesis.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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