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NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln) AND Pulmonary arterial hypertension

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001003757.1

Allele description [Variation Report for NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln)]

NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln)

Gene:
ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln)
Other names:
p.R484Q:CGG>CAG
HGVS:
  • NC_000012.12:g.51920832G>A
  • NG_009549.1:g.18415G>A
  • NM_000020.3:c.1451G>AMANE SELECT
  • NM_001077401.2:c.1451G>A
  • NP_000011.2:p.Arg484Gln
  • NP_000011.2:p.Arg484Gln
  • NP_001070869.1:p.Arg484Gln
  • LRG_543t1:c.1451G>A
  • LRG_543:g.18415G>A
  • LRG_543p1:p.Arg484Gln
  • NC_000012.11:g.52314616G>A
  • NM_000020.2:c.1451G>A
  • NM_001077401.1:c.1451G>A
  • NP_000011.2:p.R484Q
  • p.(Arg484Gln)
Protein change:
R484Q
Links:
dbSNP: rs863223408
NCBI 1000 Genomes Browser:
rs863223408
Molecular consequence:
  • NM_000020.3:c.1451G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077401.2:c.1451G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pulmonary arterial hypertension
Identifiers:
MONDO: MONDO:0015924; MeSH: D000081029; MedGen: C2973725; Orphanet: 182090; Human Phenotype Ontology: HP:0002092

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001162200NIHR Bioresource Rare Diseases, University of Cambridge
no assertion criteria provided
Likely pathogenicunknownresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedresearch

Citations

PubMed

Whole-genome sequencing of patients with rare diseases in a national health system.

Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, et al.

Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24.

PubMed [citation]
PMID:
32581362
PMCID:
PMC7610553

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001162200.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024