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
Identifiers:: MONDO: MONDO:0024533; MedGen: C4552070; Orphanet: 422; OMIM: 178600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000576316	Rare Disease Genomics Group, St George's University of London	no assertion criteria provided	Pathogenic	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000576316

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

no assertion criteria provided

Pathogenic

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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