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NM_001114753.3(ENG):c.1450_1451del (p.Ser484fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 23, 2019
Accession:
VCV000956837.2
Variation ID:
956837
Description:
2bp microsatellite
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NM_001114753.3(ENG):c.1450_1451del (p.Ser484fs)

Allele ID
946360
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
9q34.11
Genomic location
9: 127818355-127818356 (GRCh38) GRCh38 UCSC
9: 130580634-130580635 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000118.3:c.1450_1451del NP_000109.1:p.Ser484fs frameshift
NC_000009.11:g.130580634GA[1]
NC_000009.12:g.127818355GA[1]
... more HGVS
Protein change
S484fs, S302fs
Other names
-
Canonical SPDI
NC_000009.12:127818354:GAGA:GA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1830385865
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Oct 23, 2019 RCV001229717.1
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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
604 902
LOC102723566 - - - GRCh38 - 274

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Oct 23, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001402171.2
Submitted: (Jan 07, 2021)
Publications:
PubMed (3)
PubMed: 158795002065688622385575
Comment:
This sequence change creates a premature translational stop signal (p.Ser484Argfs*16) in the ENG gene. It is expected to result in an absent or disrupted protein … (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
A novel ENG mutation causing impaired co-translational processing of endoglin associated with hereditary hemorrhagic telangiectasia. Suzuki A Thrombosis research 2012 PMID: 22385575
The physiological role of endoglin in the cardiovascular system. López-Novoa JM American journal of physiology. Heart and circulatory physiology 2010 PMID: 20656886
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. Abdalla SA Journal of medical genetics 2006 PMID: 15879500

Text-mined citations for rs1830385865...

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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 Jan 08, 2022