NM_001077401.2(ACVRL1):c.1232G>A (p.Arg411Gln) AND Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia

Clinical significance:Pathogenic (Last evaluated: Apr 1, 2004)

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:
RCV000008727.2

Allele description [Variation Report for NM_001077401.2(ACVRL1):c.1232G>A (p.Arg411Gln)]

NM_001077401.2(ACVRL1):c.1232G>A (p.Arg411Gln)

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_001077401.2(ACVRL1):c.1232G>A (p.Arg411Gln)
HGVS:
  • NC_000012.12:g.51916219G>A
  • NG_009549.1:g.13802G>A
  • NM_000020.2:c.1232G>A
  • NM_001077401.2:c.1232G>A
  • NP_000011.2:p.Arg411Gln
  • NP_001070869.1:p.Arg411Gln
  • LRG_543t1:c.1232G>A
  • LRG_543:g.13802G>A
  • LRG_543p1:p.Arg411Gln
  • NC_000012.11:g.52310003G>A
  • NM_001077401.1:c.1232G>A
  • P37023:p.Arg411Gln
Protein change:
R411Q; ARG411GLN
Links:
UniProtKB: P37023#VAR_006213; OMIM: 601284.0001; dbSNP: rs121909284
NCBI 1000 Genomes Browser:
rs121909284
Molecular consequence:
  • NM_000020.2:c.1232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077401.2:c.1232G>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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000028936OMIMno assertion criteria providedPathogenic
(Apr 1, 2004)
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

Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.

Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, Stenzel TT, Speer M, Pericak-Vance MA, Diamond A, Guttmacher AE, Jackson CE, Attisano L, Kucherlapati R, Porteous ME, Marchuk DA.

Nat Genet. 1996 Jun;13(2):189-95.

PubMed [citation]
PMID:
8640225

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, SCV000028936.2

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

Description

In affected members of a family with hereditary hemorrhagic telangiectasia (HHT2; 600376), Johnson et al. (1996) identified a 1232G-A transition in the ACVRL1 gene that was predicted to result in an arg411-to-gln (R411Q) substitution.

In a French patient with HHT2, Lesca et al. (2004) identified the R411Q mutation.

In a 26-year-old woman with familial hereditary hemorrhagic telangiectasia-related primary pulmonary hypertension (see 600376), Harrison et al. (2003) identified the R411Q mutation.

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

Last Updated: Jul 10, 2021

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