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NM_000118.3(ENG):c.694C>T (p.Arg232Trp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Apr 2, 2021)
Last evaluated:
Mar 23, 2021
Accession:
VCV000652688.4
Variation ID:
652688
Description:
single nucleotide variant
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NM_000118.3(ENG):c.694C>T (p.Arg232Trp)

Allele ID
637697
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127825353 (GRCh38) GRCh38 UCSC
9: 130587632 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_589t2:c.694C>T LRG_589p2:p.Arg232Trp
LRG_589t1:c.694C>T LRG_589p1:p.Arg232Trp
LRG_589:g.34416C>T
... more HGVS
Protein change
R232W, R50W
Other names
-
Canonical SPDI
NC_000009.12:127825352:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00013
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00023
Links
dbSNP: rs200372420
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Mar 23, 2021 RCV001001189.2
Uncertain significance 1 criteria provided, single submitter Aug 22, 2020 RCV000808290.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ENG Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
590 883

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 28, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia type 1
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001158345.1
Submitted: (Aug 05, 2019)
Evidence details
Comment:
The ENG c.694C>T; p.Arg232Trp variant (rs200372420) is reported in the literature in an individual affected with intracranial aneurysm but also in several healthy controls (Santiago-Sim … (more)
Uncertain significance
(Mar 23, 2021)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia type 1
Allele origin: germline
Johns Hopkins Genomics, Johns Hopkins University
Accession: SCV001548511.1
Submitted: (Apr 02, 2021)
Evidence details
Publications
PubMed (1)
Comment:
ENG c.694C>T has been previously reported in an individual with an intracranial aneurysm, but also in three apparently healthy individuals. This ENG variant (rs200372420) is … (more)
Uncertain significance
(Aug 22, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV000948392.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces arginine with tryptophan at codon 232 of the ENG protein (p.Arg232Trp). The arginine residue is moderately conserved and there is a … (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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Title Author Journal Year Link
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation. Kobayashi Y Genome medicine 2017 PMID: 28166811
Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm. Santiago-Sim T Stroke 2009 PMID: 19299629

Text-mined citations for rs200372420...

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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 Oct 08, 2021