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NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1])

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 5, 2019
Accession:
VCV000811377.3
Variation ID:
811377
Description:
6bp microsatellite
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NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1])

Allele ID
799570
Variant type
Microsatellite
Variant length
6 bp
Cytogenetic location
9q34.11
Genomic location
9: 127825338-127825343 (GRCh38) GRCh38 UCSC
9: 130587617-130587622 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000118.3:c.704_709del
NC_000009.11:g.130587619ACCGTC[1]
NC_000009.12:g.127825340ACCGTC[1]
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:127825337:TCACCGTCACCGTC:TCACCGTC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1588582060
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 25, 2019 RCV001001196.1
Uncertain significance 1 criteria provided, single submitter Jun 5, 2019 RCV001223354.2
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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

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 25, 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: SCV001158356.1
Submitted: (Aug 05, 2019)
Evidence details
Comment:
The ENG c.704_709delCGGTGA; p.Thr235_Val236del variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from … (more)
Uncertain significance
(Jun 05, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV001395498.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This variant, c.704_709del, results in the deletion of 2 amino acid(s) of the ENG protein (p.Thr235_Val236del), but otherwise preserves the integrity of the reading frame. … (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 rs1588582060...

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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