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NM_000020.3(ACVRL1):c.955G>C (p.Gly319Arg) AND Telangiectasia, hereditary hemorrhagic, type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 29, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000640435.9

Allele description [Variation Report for NM_000020.3(ACVRL1):c.955G>C (p.Gly319Arg)]

NM_000020.3(ACVRL1):c.955G>C (p.Gly319Arg)

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.955G>C (p.Gly319Arg)
HGVS:
  • NC_000012.12:g.51915407G>C
  • NG_009549.1:g.12990G>C
  • NM_000020.3:c.955G>CMANE SELECT
  • NM_001077401.2:c.955G>C
  • NP_000011.2:p.Gly319Arg
  • NP_000011.2:p.Gly319Arg
  • NP_001070869.1:p.Gly319Arg
  • LRG_543t1:c.955G>C
  • LRG_543:g.12990G>C
  • LRG_543p1:p.Gly319Arg
  • NC_000012.11:g.52309191G>C
  • NM_000020.2:c.955G>C
Protein change:
G319R
Links:
dbSNP: rs1085307414
NCBI 1000 Genomes Browser:
rs1085307414
Molecular consequence:
  • NM_000020.3:c.955G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077401.2:c.955G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Telangiectasia, hereditary hemorrhagic, type 2 (HHT2)
Synonyms:
Telangiectasia, hereditary hemorrhagic, type II; Osler Weber Rendu syndrome type 2
Identifiers:
MONDO: MONDO:0010880; MedGen: C1838163; Orphanet: 774; OMIM: 600376

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000762026Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Feb 29, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

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

Identification of multiple ACVRL1 mutations in patients with pulmonary arterial hypertension by targeted exome capture.

Piao C, Zhu Y, Zhang C, Xi X, Liu X, Zheng S, Li X, Guo J, Jia L, Nakanishi T, Cai T, Gu H, Du J.

Clin Sci (Lond). 2016 Sep 1;130(17):1559-69. doi: 10.1042/CS20160247. Epub 2016 Jun 17.

PubMed [citation]
PMID:
27316748
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000762026.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 319 of the ACVRL1 protein (p.Gly319Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant has been observed in individual(s) with pulmonary arterial hypertension or hereditary hemorrhagic telangiectasia (PMID: 26387786, 27316748, Invitae). ClinVar contains an entry for this variant (Variation ID: 426022). For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect ACVRL1 protein function (PMID: 27316748).

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

Last Updated: Sep 29, 2024