Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000127.2(EXT1):c.1782G>A (p.Ala594=)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jul 4, 2021)
Last evaluated:
Jul 26, 2020
Accession:
VCV000361654.12
Variation ID:
361654
Description:
single nucleotide variant
Help

NM_000127.2(EXT1):c.1782G>A (p.Ala594=)

Allele ID
312700
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q24.11
Genomic location
8: 117807318 (GRCh38) GRCh38 UCSC
8: 118819557 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_493:g.309502G>A
LRG_493t1:c.1782G>A LRG_493p1:p.Ala594=
NC_000008.10:g.118819557C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000008.11:117807317:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00073
The Genome Aggregation Database (gnomAD), exomes 0.00079
Trans-Omics for Precision Medicine (TOPMed) 0.00036
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00077
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00085
Links
ClinGen: CA4854012
dbSNP: rs61753261
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Jul 26, 2020 RCV001087128.3
Likely benign 1 criteria provided, single submitter Mar 27, 2017 RCV000606288.1
Likely benign 1 criteria provided, single submitter Apr 1, 2019 RCV000950329.4
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EXT1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
467 514

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Mar 27, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000717758.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Multiple congenital exostosis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000471519.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jul 26, 2020)
criteria provided, single submitter
Method: clinical testing
Multiple congenital exostosis
Allele origin: germline
Invitae
Accession: SCV001096630.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Apr 01, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001155468.7
Submitted: (Jul 04, 2021)
Evidence details

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs61753261...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 07, 2021