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NM_000127.3(EXT1):c.564G>T (p.Arg188Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 24, 2020)
Last evaluated:
Dec 13, 2018
Accession:
VCV000931007.2
Variation ID:
931007
Description:
single nucleotide variant
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NM_000127.3(EXT1):c.564G>T (p.Arg188Ser)

Allele ID
919138
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q24.11
Genomic location
8: 118110483 (GRCh38) GRCh38 UCSC
8: 119122722 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.119122722C>A
NC_000008.11:g.118110483C>A
NM_000127.3:c.564G>T MANE Select NP_000118.2:p.Arg188Ser missense
... more HGVS
Protein change
R188S
Other names
-
Canonical SPDI
NC_000008.11:118110482:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 13, 2018 RCV001197122.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Uncertain significance
(Dec 13, 2018)
criteria provided, single submitter
Method: clinical testing
Chondrosarcoma
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV001367758.2
Submitted: (Nov 24, 2020)
Evidence details
Comment:
This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in … (more)

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.

Record last updated Dec 12, 2020