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NM_000118.3(ENG):c.1088G>C (p.Cys363Ser)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Nov 30, 2018
Accession:
VCV000661587.1
Variation ID:
661587
Description:
single nucleotide variant
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NM_000118.3(ENG):c.1088G>C (p.Cys363Ser)

Allele ID
637685
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127824350 (GRCh38) GRCh38 UCSC
9: 130586629 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_589t1:c.1088G>C LRG_589p1:p.Cys363Ser
LRG_589t2:c.1088G>C LRG_589p2:p.Cys363Ser
LRG_589:g.35419G>C
... more HGVS
Protein change
C181S, C363S
Other names
-
Canonical SPDI
NC_000009.12:127824349:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1588580782
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Nov 30, 2018 RCV000819037.1
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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
590 883

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 30, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV000959678.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces cysteine with serine at codon 363 of the ENG protein (p.Cys363Ser). The cysteine 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
Hereditary hemorrhagic telangiectasia in Japanese patients. Komiyama M Journal of human genetics 2014 PMID: 24196379
Hypogonadotropic hypogonadism associated with hereditary hemorrhagic telangiectasia [corrected]. Scarano V Case reports in endocrinology 2013 PMID: 23710379
Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations. Nishida T American journal of medical genetics. Part A 2012 PMID: 22991266
Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations. Gedge F The Journal of molecular diagnostics : JMD 2007 PMID: 17384219
Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function. Paquet ME Human molecular genetics 2001 PMID: 11440987

Text-mined citations for rs1588580782...

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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