NM_000020.2(ACVRL1):c.760_762del (p.Asp254del) AND Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia

Clinical significance:Pathogenic (Last evaluated: Aug 2, 2001)

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:
RCV000008736.2

Allele description [Variation Report for NM_000020.2(ACVRL1):c.760_762del (p.Asp254del)]

NM_000020.2(ACVRL1):c.760_762del (p.Asp254del)

Gene:
ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_000020.2(ACVRL1):c.760_762del (p.Asp254del)
HGVS:
  • NC_000012.12:g.51914573_51914575del
  • NG_009549.1:g.12156_12158del
  • NM_000020.2:c.760_762del
  • NM_001077401.2:c.760_762del
  • NP_000011.2:p.Asp254del
  • NP_000011.2:p.Asp254del
  • NP_001070869.1:p.Asp254del
  • LRG_543t1:c.760_762del
  • LRG_543:g.12156_12158del
  • LRG_543p1:p.Asp254del
  • NC_000012.11:g.52308357_52308359del
  • NM_000020.2:c.760_762delGAC
Protein change:
D254del
Links:
OMIM: 601284.0008; dbSNP: rs387906393
NCBI 1000 Genomes Browser:
rs387906393
Molecular consequence:
  • NM_000020.2:c.760_762del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001077401.2:c.760_762del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000028945OMIMno assertion criteria providedPathogenic
(Aug 2, 2001)
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

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

Details of each submission

From OMIM, SCV000028945.2

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

Description

In affected members of a family with hereditary hemorrhagic telangiectasia-2 (HHT2; 600376), Trembath et al. (2001) identified a 3-bp deletion (del759-761) in exon 6 of the ACVRL1 gene, resulting in deletion of asp254. Three members had isolated HHT and 2 members had both HHT and pulmonary arterial hypertension, 1 of whom had pulmonary arteriovenous malformations.

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

Last Updated: Oct 16, 2021

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