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NM_000127.2(EXT1):c.1761G>A (p.Glu587=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 21, 2021)
Last evaluated:
Aug 10, 2021
Accession:
VCV000255175.6
Variation ID:
255175
Description:
single nucleotide variant
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NM_000127.2(EXT1):c.1761G>A (p.Glu587=)

Allele ID
253019
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q24.11
Genomic location
8: 117807339 (GRCh38) GRCh38 UCSC
8: 118819578 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_493:g.309481G>A
LRG_493t1:c.1761G>A LRG_493p1:p.Glu587=
NC_000008.10:g.118819578C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000008.11:117807338:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.33846 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.39736
1000 Genomes Project 0.33846
The Genome Aggregation Database (gnomAD) 0.35811
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.35107
Trans-Omics for Precision Medicine (TOPMed) 0.36118
The Genome Aggregation Database (gnomAD), exomes 0.40712
Links
ClinGen: CA4854016
dbSNP: rs7837891
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Aug 10, 2021 RCV000394057.4
Benign 1 criteria provided, single submitter - RCV000253590.1
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001636739.3
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000302390.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Multiple congenital exostosis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000471521.3
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
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Multiple congenital exostosis
Allele origin: germline
Invitae
Accession: SCV001729425.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001849347.1
Submitted: (Sep 10, 2021)
Evidence details
Benign
(Aug 10, 2021)
criteria provided, single submitter
Method: clinical testing
Multiple congenital exostosis
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001933330.1
Submitted: (Sep 21, 2021)
Evidence details

Functional evidence

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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

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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 rs7837891...

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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 Sep 29, 2021