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NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 24, 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:
RCV002358746.2

Allele description [Variation Report for NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter)]

NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter)

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.601C>T (p.Gln201Ter)
Other names:
p.Gln201*
HGVS:
  • NC_000012.12:g.51914049C>T
  • NG_009549.1:g.11632C>T
  • NM_000020.3:c.601C>TMANE SELECT
  • NM_001077401.2:c.601C>T
  • NP_000011.2:p.Gln201Ter
  • NP_000011.2:p.Gln201Ter
  • NP_001070869.1:p.Gln201Ter
  • LRG_543t1:c.601C>T
  • LRG_543:g.11632C>T
  • LRG_543p1:p.Gln201Ter
  • NC_000012.11:g.52307833C>T
  • NM_000020.2:c.601C>T
Protein change:
Q201*
Links:
dbSNP: rs1318446539
NCBI 1000 Genomes Browser:
rs1318446539
Molecular consequence:
  • NM_000020.3:c.601C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001077401.2:c.601C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002656226Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Pathogenic
(Mar 24, 2022)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.

Richards-Yutz J, Grant K, Chao EC, Walther SE, Ganguly A.

Hum Genet. 2010 Jul;128(1):61-77. doi: 10.1007/s00439-010-0825-4. Epub 2010 Apr 23.

PubMed [citation]
PMID:
20414677

Details of each submission

From Ambry Genetics, SCV002656226.2

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

Description

The p.Q201* pathogenic mutation (also known as c.601C>T), located in coding exon 4 of the ACVRL1 gene, results from a C to T substitution at nucleotide position 601. This changes the amino acid from a glutamine to a stop codon within coding exon 4. This mutation was detected in one individual with epistaxis, telangiectasias, and a family history of hereditary hemorrhagic telangiectasia (Richards-Yutz J et al. Hum. Genet., 2010 Jul;128:61-77). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 29, 2024