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NM_001114753.3(ENG):c.497A>C (p.Gln166Pro)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: May 21, 2020)
Last evaluated:
Nov 25, 2019
Accession:
VCV000834356.2
Variation ID:
834356
Description:
single nucleotide variant
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NM_001114753.3(ENG):c.497A>C (p.Gln166Pro)

Allele ID
835488
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127826536 (GRCh38) GRCh38 UCSC
9: 130588815 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000118.3:c.497A>C NP_000109.1:p.Gln166Pro missense
NC_000009.11:g.130588815T>G
NC_000009.12:g.127826536T>G
... more HGVS
Protein change
Q166P
Other names
-
Canonical SPDI
NC_000009.12:127826535:T:G
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 Nov 25, 2019 RCV001035020.1
Uncertain significance 1 criteria provided, single submitter Jan 1, 2018 RCV001263065.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ENG Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
591 884

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 25, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV001198325.1
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces glutamine with proline at codon 166 of the ENG protein (p.Gln166Pro). The glutamine residue is moderately conserved and there is a … (more)
Uncertain significance
(Jan 01, 2018)
criteria provided, single submitter
Method: research
Hereditary hemorrhagic telangiectasia type 1
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV001441142.1
Submitted: (May 21, 2020)
Evidence details
Publications
PubMed (1)
Comment:
PM2+PP4+PP3

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
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia. Shovlin CL Blood 2020 PMID: 32573726
Hereditary hemorrhagic telangiectasia in Japanese patients. Komiyama M Journal of human genetics 2014 PMID: 24196379

Record last updated Oct 24, 2021