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NM_000020.3(ACVRL1):c.293A>G (p.Asn98Ser) AND Pulmonary hypertension, primary, 1

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:
RCV000488635.2

Allele description [Variation Report for NM_000020.3(ACVRL1):c.293A>G (p.Asn98Ser)]

NM_000020.3(ACVRL1):c.293A>G (p.Asn98Ser)

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.293A>G (p.Asn98Ser)
HGVS:
  • NC_000012.12:g.51913330A>G
  • NG_009549.1:g.10913A>G
  • NM_000020.3:c.293A>GMANE SELECT
  • NM_001077401.2:c.293A>G
  • NP_000011.2:p.Asn98Ser
  • NP_000011.2:p.Asn98Ser
  • NP_001070869.1:p.Asn98Ser
  • LRG_543t1:c.293A>G
  • LRG_543:g.10913A>G
  • LRG_543p1:p.Asn98Ser
  • NC_000012.11:g.52307114A>G
  • NM_000020.2:c.293A>G
Protein change:
N98S
Links:
dbSNP: rs1085307406
NCBI 1000 Genomes Browser:
rs1085307406
Molecular consequence:
  • NM_000020.3:c.293A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077401.2:c.293A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pulmonary hypertension, primary, 1 (PPH1)
Identifiers:
MONDO: MONDO:0024533; MedGen: C4552070; Orphanet: 422; OMIM: 178600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000576316Rare Disease Genomics Group, St George's University of London
no assertion criteria provided
Pathogenicgermlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

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 Rare Disease Genomics Group, St George's University of London, SCV000576316.1

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

Last Updated: Sep 29, 2024