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NM_000118.3(ENG):c.396_397delinsAA (p.Val133Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 5, 2017)
Last evaluated:
Apr 4, 2017
Accession:
VCV000458348.1
Variation ID:
458348
Description:
2bp indel
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NM_000118.3(ENG):c.396_397delinsAA (p.Val133Ile)

Allele ID
458282
Variant type
Indel
Variant length
2 bp
Cytogenetic location
9q34.11
Genomic location
9: 127826636-127826637 (GRCh38) GRCh38 UCSC
9: 130588915-130588916 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.130588915_130588916delinsTT
NC_000009.12:g.127826636_127826637delinsTT
NM_000118.3:c.396_397delinsAA NP_000109.1:p.Val133Ile missense
... more HGVS
Protein change
V133I
Other names
-
Canonical SPDI
NC_000009.12:127826635:CC:TT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658656042
dbSNP: rs1554810507
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 4, 2017 RCV000560118.1
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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
(Apr 04, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV000629571.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces valine with isoleucine at codon 133 of the ENG protein (p.Val133Ile). The valine 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1554810507...

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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 Apr 12, 2021