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NM_001114753.3(ENG):c.91G>A (p.Asp31Asn)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 23, 2019
Accession:
VCV000957202.2
Variation ID:
957202
Description:
single nucleotide variant
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NM_001114753.3(ENG):c.91G>A (p.Asp31Asn)

Allele ID
946373
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127843222 (GRCh38) GRCh38 UCSC
9: 130605501 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_589:g.16547G>A
LRG_589t1:c.91G>A LRG_589p1:p.Asp31Asn
NC_000009.11:g.130605501C>T
... more HGVS
Protein change
D31N
Other names
-
Canonical SPDI
NC_000009.12:127843221: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 Sep 23, 2019 RCV001230142.1
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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
(Sep 23, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV001402613.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces aspartic acid with asparagine at codon 31 of the ENG protein (p.Asp31Asn). The aspartic acid residue is highly conserved and there … (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.

Record last updated Oct 08, 2021