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NM_000401.3(EXT2):c.1860G>A (p.Thr620=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 30, 2020
Accession:
VCV000304591.5
Variation ID:
304591
Description:
single nucleotide variant
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NM_000401.3(EXT2):c.1860G>A (p.Thr620=)

Allele ID
314046
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p11.2
Genomic location
11: 44232451 (GRCh38) GRCh38 UCSC
11: 44254001 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.44254001G>A
NC_000011.10:g.44232451G>A
NM_001178083.2:c.1791G>A NP_001171554.1:p.Thr597= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:44232450:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.01098 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.01458
The Genome Aggregation Database (gnomAD), exomes 0.00334
Exome Aggregation Consortium (ExAC) 0.00397
1000 Genomes Project 0.01098
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01430
The Genome Aggregation Database (gnomAD) 0.01303
Links
ClinGen: CA5955344
dbSNP: rs16937864
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 Nov 30, 2020 RCV000641569.5
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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
319 343

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
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: SCV000371855.3
Submitted: (Feb 20, 2020)
Evidence details
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)
Benign
(Nov 30, 2020)
criteria provided, single submitter
Method: clinical testing
Multiple exostoses type 2
Allele origin: germline
Invitae
Accession: SCV000763211.4
Submitted: (Jan 07, 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 rs16937864...

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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