NM_000020.2(ACVRL1):c.1231C>T (p.Arg411Trp) AND Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia

Clinical significance:Pathogenic (Last evaluated: Jun 1, 2008)

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:
RCV000008738.2

Allele description [Variation Report for NM_000020.2(ACVRL1):c.1231C>T (p.Arg411Trp)]

NM_000020.2(ACVRL1):c.1231C>T (p.Arg411Trp)

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.1231C>T (p.Arg411Trp)
Other names:
p.R411W:CGG>TGG
HGVS:
  • NC_000012.12:g.51916218C>T
  • NG_009549.1:g.13801C>T
  • NM_000020.2:c.1231C>T
  • NM_001077401.2:c.1231C>T
  • NP_000011.2:p.Arg411Trp
  • NP_001070869.1:p.Arg411Trp
  • LRG_543t1:c.1231C>T
  • LRG_543:g.13801C>T
  • LRG_543p1:p.Arg411Trp
  • NC_000012.11:g.52310002C>T
  • P37023:p.Arg411Trp
Protein change:
R411W; ARG411TRP
Links:
UniProtKB: P37023#VAR_026809; OMIM: 601284.0009; dbSNP: rs121909287
NCBI 1000 Genomes Browser:
rs121909287
Molecular consequence:
  • NM_000020.2:c.1231C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077401.2:c.1231C>T - 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
SCV000028947OMIMno assertion criteria providedPathogenic
(Jun 1, 2008)
germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

Trembath RC, Thomson JR, Machado RD, Morgan NV, Atkinson C, Winship I, Simonneau G, Galie N, Loyd JE, Humbert M, Nichols WC, Morrell NW, Berg J, Manes A, McGaughran J, Pauciulo M, Wheeler L.

N Engl J Med. 2001 Aug 2;345(5):325-34.

PubMed [citation]
PMID:
11484689

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.

Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S, Rivière S, Leheup B, Goizet C, Carette MF, Cordier JF, Pinson S, Soubrier F, Calender A, Giraud S; French Rendu-Osler Network..

Hum Mutat. 2004 Apr;23(4):289-99.

PubMed [citation]
PMID:
15024723
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000028947.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

In affected members of a family with hereditary hemorrhagic telangiectasia (HHT2; 600376), Trembath et al. (2001) identified an arg411-to-trp (R411W) mutation in exon 8 of the ACVRL1 gene. One patient had HHT and pulmonary arterial hypertension (see 600376).

In 7 unrelated French patients with HHT2, Lesca et al. (2004) identified the R411W mutation.

In a population-based study of primarily French HHT2 patients, Lesca et al. (2008) showed that the R411W mutation associated with a shared ancestral haplotype in a subset of patients, suggesting a founder effect with the mutation arising approximately 300 years ago. In other patients, the mutation was related to different independent mutation events.

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

Last Updated: May 10, 2021

Support Center