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NM_001114753.3(ENG):c.1721TCA[1] (p.Ile575del)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 29, 2018)
Last evaluated:
Mar 14, 2018
Accession:
VCV000577833.1
Variation ID:
577833
Description:
3bp microsatellite
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NM_001114753.3(ENG):c.1721TCA[1] (p.Ile575del)

Allele ID
562738
Variant type
Microsatellite
Variant length
3 bp
Cytogenetic location
9q34.11
Genomic location
9: 127817164-127817166 (GRCh38) GRCh38 UCSC
9: 130579443-130579445 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.130579445ATG[1]
NC_000009.12:g.127817166ATG[1]
NM_001114753.3:c.1721TCA[1] MANE Select NP_001108225.1:p.Ile575del
... more HGVS
Protein change
I575del, I393del
Other names
-
Canonical SPDI
NC_000009.12:127817163:TGATGATG:TGATG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs777038953
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 Mar 14, 2018 RCV000700678.1
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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
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
(Mar 14, 2018)
criteria provided, single submitter
Method: clinical testing
Osler hemorrhagic telangiectasia syndrome
Allele origin: germline
Invitae
Accession: SCV000829443.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This variant, c.1724_1726delTCA, results in the deletion of 1 amino acid(s) of the ENG protein (p.Ile575del), 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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs777038953...

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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 May 28, 2021