NM_000020.2(ACVRL1):c.632G>A (p.Gly211Asp) AND Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia

Clinical significance:Pathogenic (Last evaluated: Dec 1, 2003)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000008741.3

Allele description [Variation Report for NM_000020.2(ACVRL1):c.632G>A (p.Gly211Asp)]

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

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_000020.2(ACVRL1):c.632G>A (p.Gly211Asp)
HGVS:
  • NC_000012.12:g.51914445G>A
  • NG_009549.1:g.12028G>A
  • NM_000020.2:c.632G>A
  • NM_001077401.2:c.632G>A
  • NP_000011.2:p.Gly211Asp
  • NP_001070869.1:p.Gly211Asp
  • LRG_543t1:c.632G>A
  • LRG_543:g.12028G>A
  • LRG_543p1:p.Gly211Asp
  • NC_000012.11:g.52308229G>A
  • P37023:p.Gly211Asp
Protein change:
G211D; GLY211ASP
Links:
UniProtKB: P37023#VAR_026788; OMIM: 601284.0011; dbSNP: rs28936687
NCBI 1000 Genomes Browser:
rs28936687
Molecular consequence:
  • NM_000020.2:c.632G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077401.2:c.632G>A - 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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000028950OMIMno assertion criteria providedPathogenic
(Dec 1, 2003)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot 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

Details of each submission

From OMIM, SCV000028950.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 56-year-old woman with hereditary hemorrhagic telangiectasia-related pulmonary arterial hypertension (see 600376), Harrison et al. (2003) identified a 632G-A transition in exon 6 of the ACVRL1 gene, resulting in a gly211-to-asp (G211D) substitution. The patient had a 6-month exposure to an appetite suppressant, at least 8 years before the onset of symptoms.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 12, 2021

Support Center