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NM_001114753.3(ENG):c.1258A>G (p.Met420Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 28, 2019
Accession:
VCV000914518.3
Variation ID:
914518
Description:
single nucleotide variant
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NM_001114753.3(ENG):c.1258A>G (p.Met420Val)

Allele ID
901119
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127819914 (GRCh38) GRCh38 UCSC
9: 130582193 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_589:g.39855A>G
LRG_589t1:c.1258A>G LRG_589p1:p.Met420Val
NC_000009.11:g.130582193T>C
... more HGVS
Protein change
M420V, M238V
Other names
-
Canonical SPDI
NC_000009.12:127819913:T:C
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 Apr 27, 2017 RCV001168716.1
Uncertain significance 1 criteria provided, single submitter Oct 28, 2019 RCV001234384.2
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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
LOC102723566 - - - GRCh38 - 269

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia type 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001331326.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
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)
Uncertain significance
(Oct 28, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV001407027.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces methionine with valine at codon 420 of the ENG protein (p.Met420Val). The methionine residue is weakly 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
[Rendu-Osler-Weber syndrome: an rare cause of hypoxemia in children]. Balza OR Anales de pediatria (Barcelona, Spain : 2003) 2010 PMID: 20813596

Record last updated Oct 08, 2021