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NM_001114753.3(ENG):c.1771G>A (p.Ala591Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 30, 2020
Accession:
VCV001042062.1
Variation ID:
1042062
Description:
single nucleotide variant
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NM_001114753.3(ENG):c.1771G>A (p.Ala591Thr)

Allele ID
1028858
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127816024 (GRCh38) GRCh38 UCSC
9: 130578303 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_589:g.43745G>A
LRG_589t1:c.1771G>A LRG_589p1:p.Ala591Thr
NC_000009.11:g.130578303C>T
... more HGVS
Protein change
A409T, A591T
Other names
-
Canonical SPDI
NC_000009.12:127816023:C:T
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 Oct 30, 2020 RCV001345954.1
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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
590 883

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 30, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV001540107.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces alanine with threonine at codon 591 of the ENG protein (p.Ala591Thr). The alanine 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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Title Author Journal Year Link
Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique. Sadick H BMC medical genetics 2009 PMID: 19508727

Record last updated Oct 08, 2021