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NM_000401.3(EXT2):c.995G>A (p.Arg332His)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 10, 2020
Accession:
VCV000134214.5
Variation ID:
134214
Description:
single nucleotide variant
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NM_000401.3(EXT2):c.995G>A (p.Arg332His)

Allele ID
137953
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p11.2
Genomic location
11: 44124941 (GRCh38) GRCh38 UCSC
11: 44146491 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.44124941G>A
NC_000011.9:g.44146491G>A
NM_000401.3:c.995G>A NP_000392.3:p.Arg332His missense
... more HGVS
Protein change
R299H, R332H
Other names
-
Canonical SPDI
NC_000011.10:44124940:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00057
Trans-Omics for Precision Medicine (TOPMed) 0.00044
1000 Genomes Project 0.00080
Exome Aggregation Consortium (ExAC) 0.00049
The Genome Aggregation Database (gnomAD) 0.00041
Links
ClinGen: CA159156
dbSNP: rs76901081
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Oct 10, 2020 RCV000945936.4
not provided 1 no assertion provided Sep 19, 2013 RCV000120887.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EXT2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
333 357

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Oct 10, 2020)
criteria provided, single submitter
Method: clinical testing
Multiple exostoses type 2
Allele origin: germline
Invitae
Accession: SCV001092011.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Multiple exostoses type 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000371839.3
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
not provided
(Sep 19, 2013)
no assertion provided
Method: reference population
AllHighlyPenetrant
Allele origin: germline
ITMI
Accession: SCV000085055.1
Submitted: (May 29, 2014)
Comment:
Please see associated publication for description of ethnicities
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL PloS one 2014 PMID: 24728327
Methylation status of EXT1 and EXT2 promoters and two mutations of EXT2 in chondrosarcoma. Tsuchiya T Cancer genetics and cytogenetics 2005 PMID: 15796962

Text-mined citations for rs76901081...

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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 Jun 14, 2021