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NM_000020.2(ACVRL1):c.682G>A (p.Val228Ile)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 20, 2020
Accession:
VCV000212799.3
Variation ID:
212799
Description:
single nucleotide variant
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NM_000020.2(ACVRL1):c.682G>A (p.Val228Ile)

Allele ID
210229
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51914495 (GRCh38) GRCh38 UCSC
12: 52308279 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_543:g.12078G>A
NC_000012.11:g.52308279G>A
NC_000012.12:g.51914495G>A
... more HGVS
Protein change
V228I
Other names
p.V228I:GTC>ATC
Canonical SPDI
NC_000012.12:51914494:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00006
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA322926
dbSNP: rs138048445
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jun 4, 2015 RCV000198425.2
Uncertain significance 1 criteria provided, single submitter Jul 20, 2020 RCV001340965.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACVRL1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
572 583

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 04, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000249629.14
Submitted: (Jan 29, 2019)
Evidence details
Comment:
p.Val228Ile (GTC>ATC): c.682 G>A in exon 6 in the ACVRL1 Gene (NM_000020.2). The V228I variant in the ACVRL1 gene has not been published as a … (more)
Uncertain significance
(Jul 20, 2020)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: germline
Invitae
Accession: SCV001534800.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces valine with isoleucine at codon 228 of the ACVRL1 protein (p.Val228Ile). The valine residue is highly 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
Complex inheritance in Pulmonary Arterial Hypertension patients with several mutations. Pousada G Scientific reports 2016 PMID: 27630060

Text-mined citations for rs138048445...

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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 Oct 08, 2021