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NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe) AND Cardiovascular phenotype

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 3, 2021
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:
RCV002449006.2

Allele description [Variation Report for NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe)]

NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe)

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.851C>T (p.Ser284Phe)
HGVS:
  • NC_000012.12:g.51915303C>T
  • NG_009549.1:g.12886C>T
  • NM_000020.3:c.851C>TMANE SELECT
  • NM_001077401.2:c.851C>T
  • NP_000011.2:p.Ser284Phe
  • NP_000011.2:p.Ser284Phe
  • NP_001070869.1:p.Ser284Phe
  • LRG_543t1:c.851C>T
  • LRG_543:g.12886C>T
  • LRG_543p1:p.Ser284Phe
  • NC_000012.11:g.52309087C>T
  • NM_000020.2:c.851C>T
Protein change:
S284F
Links:
dbSNP: rs768643771
NCBI 1000 Genomes Browser:
rs768643771
Molecular consequence:
  • NM_000020.3:c.851C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077401.2:c.851C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002679147Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Sep 3, 2021) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia.

Abdalla SA, Cymerman U, Rushlow D, Chen N, Stoeber GP, Lemire EG, Letarte M.

Hum Mutat. 2005 Mar;25(3):320-1.

PubMed [citation]
PMID:
15712271

Details of each submission

From Ambry Genetics, SCV002679147.2

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

Description

The p.S284F variant (also known as c.851C>T), located in coding exon 6 of the ACVRL1 gene, results from a C to T substitution at nucleotide position 851. The serine at codon 284 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This variant was identified in a family with epistaxis, telangiectasias, gastrointestinal bleeding, and hepatic shunting (Abdalla SA et al. Hum. Mutat., 2005 Mar;25:320-1). In our internal cohort, this variant was identified in an individual with a clinical diagnosis of hereditary hemorrhagic telangiectasia (Ambry internal data) This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: Sep 29, 2024