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NM_001077401.2(ACVRL1):c.653_654inv (p.Arg218Pro)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Aug 25, 2015)
Accession:
VCV000426015.1
Variation ID:
426015
Description:
2bp inversion
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NM_001077401.2(ACVRL1):c.653_654inv (p.Arg218Pro)

Allele ID
414433
Variant type
Inversion
Variant length
2 bp
Cytogenetic location
12q13.13
Genomic location
12: 51914466-51914467 (GRCh38) GRCh38 UCSC
12: 52308250-52308251 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.52308250_52308251inv
NC_000012.12:g.51914466_51914467inv
NM_001077401.2:c.653_654inv NP_001070869.1:p.Arg218Pro missense
... more HGVS
Protein change
R218P
Other names
NP_000011.2:p.R218P
Canonical SPDI
NC_000012.12:51914465:GG:CC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA645293884
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided - RCV000488551.1
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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
573 584

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(-)
no assertion criteria provided
Method: literature only
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Allele origin: germline
Medical & Molecular Genetics Group,University of Lincoln
Accession: SCV000576321.1
Submitted: (Aug 25, 2015)
Evidence details
Publications
PubMed (2)

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
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. Machado RD Human mutation 2015 PMID: 26387786
Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension. Chen YJ European journal of clinical investigation 2013 PMID: 23919827

Record last updated Aug 06, 2020