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NM_000020.2(ACVRL1):c.632G>A (p.Gly211Asp)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: May 21, 2020)
Last evaluated:
Apr 12, 2019
Accession:
VCV000008253.3
Variation ID:
8253
Description:
single nucleotide variant
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NM_000020.2(ACVRL1):c.632G>A (p.Gly211Asp)

Allele ID
23292
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.13
Genomic location
12: 51914445 (GRCh38) GRCh38 UCSC
12: 52308229 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.52308229G>A
NC_000012.12:g.51914445G>A
NM_000020.2:c.632G>A NP_000011.2:p.Gly211Asp missense
... more HGVS
Protein change
G211D
Other names
-
Canonical SPDI
NC_000012.12:51914444:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA119406
UniProtKB: P37023#VAR_026788
OMIM: 601284.0011
dbSNP: rs28936687
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Apr 12, 2019 RCV001001392.2
Pathogenic 1 no assertion criteria provided Dec 1, 2003 RCV000008741.3
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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
571 582

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Apr 12, 2019)
criteria provided, single submitter
Method: clinical testing
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001158598.1
Submitted: (Aug 05, 2019)
Evidence details
Comment:
The ACVRL1 c.632G>A; p.Gly211Asp variant (rs28936687) is reported in the medical literature in an individual with HHT and pulmonary hypertension (Harrison 2003). ARUP has also … (more)
Likely pathogenic
(Jan 01, 2018)
criteria provided, single submitter
Method: research
Telangiectasia, hereditary hemorrhagic, type 2
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV001439467.1
Submitted: (May 21, 2020)
Evidence details
Publications
PubMed (1)
Comment:
PS3+PM2+PP4+PP5
Pathogenic
(Dec 01, 2003)
no assertion criteria provided
Method: literature only
PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED
Allele origin: germline
OMIM
Accession: SCV000028950.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia. Shovlin CL Blood 2020 PMID: 32573726
Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. Harrison RE Journal of medical genetics 2003 PMID: 14684682

Text-mined citations for rs28936687...

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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 08, 2021