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NM_001114753.3(ENG):c.613C>T (p.Arg205Trp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 26, 2020
Accession:
VCV001001608.1
Variation ID:
1001608
Description:
single nucleotide variant
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NM_001114753.3(ENG):c.613C>T (p.Arg205Trp)

Allele ID
993147
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127825771 (GRCh38) GRCh38 UCSC
9: 130588050 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.130588050G>A
NC_000009.12:g.127825771G>A
NG_009551.1:g.33998C>T
... more HGVS
Protein change
R205W, R23W
Other names
-
Canonical SPDI
NC_000009.12:127825770:G:A
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 26, 2020 RCV001297931.1
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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 26, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV001486969.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with tryptophan at codon 205 of the ENG protein (p.Arg205Trp). The arginine 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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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