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NM_000020.3(ACVRL1):c.1460A>C (p.Lys487Thr) AND Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia

Germline classification:
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:
RCV000488579.1

Allele description

NM_000020.3(ACVRL1):c.1460A>C (p.Lys487Thr)

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.1460A>C (p.Lys487Thr)
HGVS:
  • NC_000012.12:g.51920841A>C
  • NG_009549.1:g.18424A>C
  • NM_000020.3:c.1460A>CMANE SELECT
  • NM_001077401.2:c.1460A>C
  • NP_000011.2:p.Lys487Thr
  • NP_000011.2:p.Lys487Thr
  • NP_001070869.1:p.Lys487Thr
  • LRG_543t1:c.1460A>C
  • LRG_543:g.18424A>C
  • LRG_543p1:p.Lys487Thr
  • NC_000012.11:g.52314625A>C
  • NM_000020.2:c.1460A>C
Protein change:
K487T
Links:
dbSNP: rs1085307428
NCBI 1000 Genomes Browser:
rs1085307428
Molecular consequence:
  • NM_000020.3:c.1460A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077401.2:c.1460A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Synonyms:
PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED
Identifiers:
MedGen: C1832529

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000576350Medical & Molecular Genetics Group, University of Lincoln
no assertion criteria provided
Pathogenicgermlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.

Harrison RE, Flanagan JA, Sankelo M, Abdalla SA, Rowell J, Machado RD, Elliott CG, Robbins IM, Olschewski H, McLaughlin V, Gruenig E, Kermeen F, Halme M, Räisänen-Sokolowski A, Laitinen T, Morrell NW, Trembath RC.

J Med Genet. 2003 Dec;40(12):865-71. Erratum in: J Med Genet. 2004 Jul;41(7):576.

PubMed [citation]
PMID:
14684682
PMCID:
PMC1735342

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Machado RD, Southgate L, Eichstaedt CA, Aldred MA, Austin ED, Best DH, Chung WK, Benjamin N, Elliott CG, Eyries M, Fischer C, Gräf S, Hinderhofer K, Humbert M, Keiles SB, Loyd JE, Morrell NW, Newman JH, Soubrier F, Trembath RC, Viales RR, Grünig E.

Hum Mutat. 2015 Dec;36(12):1113-27. doi: 10.1002/humu.22904. Epub 2015 Oct 12. Review.

PubMed [citation]
PMID:
26387786
PMCID:
PMC4822159

Details of each submission

From Medical & Molecular Genetics Group, University of Lincoln, SCV000576350.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 17, 2022