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NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 9, 2022
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:
RCV000426666.4

Allele description [Variation Report for NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro)]

NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro)

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.140G>C (p.Arg47Pro)
HGVS:
  • NC_000012.12:g.51913177G>C
  • NG_009549.1:g.10760G>C
  • NM_000020.3:c.140G>CMANE SELECT
  • NM_001077401.2:c.140G>C
  • NP_000011.2:p.Arg47Pro
  • NP_000011.2:p.Arg47Pro
  • NP_001070869.1:p.Arg47Pro
  • LRG_543t1:c.140G>C
  • LRG_543:g.10760G>C
  • LRG_543p1:p.Arg47Pro
  • NC_000012.11:g.52306961G>C
  • NM_000020.2:c.140G>C
Protein change:
R47P
Links:
dbSNP: rs774389618
NCBI 1000 Genomes Browser:
rs774389618
Molecular consequence:
  • NM_000020.3:c.140G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077401.2:c.140G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000520849GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jun 9, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000520849.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported in multiple unrelated individuals with features of HHT in published literature, including one family where the variant was found in five relatives with epistaxis and telangiectasias and one relative with hepatic and cerebral arteriovenous malformations (Fernandez et al., 2006; Wehner et al., 2006; Nishida et al., 2012); Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22028876, 22991266, 26176610, 16542389, 16470589)

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

Last Updated: Sep 29, 2024