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NM_000118.3(ENG):c.673C>G (p.Pro225Ala)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Nov 25, 2017
Accession:
VCV000528069.1
Variation ID:
528069
Description:
single nucleotide variant
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NM_000118.3(ENG):c.673C>G (p.Pro225Ala)

Allele ID
523980
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127825711 (GRCh38) GRCh38 UCSC
9: 130587990 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.130587990G>C
NC_000009.12:g.127825711G>C
NM_001114753.2:c.673C>G NP_001108225.1:p.Pro225Ala missense
... more HGVS
Protein change
P225A, P43A
Other names
-
Canonical SPDI
NC_000009.12:127825710:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA374983508
dbSNP: rs1554810373
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 Nov 25, 2017 RCV000633149.1
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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
(Nov 25, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV000754363.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces proline with alanine at codon 225 of the ENG protein (p.Pro225Ala). The proline 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.

Text-mined citations for rs1554810373...

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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 Apr 12, 2021