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NM_000020.3(ACVRL1):c.1249A>T (p.Ile417Phe) AND Hereditary hemorrhagic telangiectasia

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 1, 2015
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:
RCV000735961.2

Allele description [Variation Report for NM_000020.3(ACVRL1):c.1249A>T (p.Ile417Phe)]

NM_000020.3(ACVRL1):c.1249A>T (p.Ile417Phe)

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.1249A>T (p.Ile417Phe)
HGVS:
  • NC_000012.12:g.51918987A>T
  • NG_009549.1:g.16570A>T
  • NM_000020.3:c.1249A>TMANE SELECT
  • NM_001077401.2:c.1249A>T
  • NP_000011.2:p.Ile417Phe
  • NP_000011.2:p.Ile417Phe
  • NP_001070869.1:p.Ile417Phe
  • LRG_543t1:c.1249A>T
  • LRG_543:g.16570A>T
  • LRG_543p1:p.Ile417Phe
  • NC_000012.11:g.52312771A>T
  • NM_000020.2:c.1249A>T
Protein change:
I417F
Links:
dbSNP: rs141653630
NCBI 1000 Genomes Browser:
rs141653630
Molecular consequence:
  • NM_000020.3:c.1249A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077401.2:c.1249A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary hemorrhagic telangiectasia (HHT)
Synonyms:
Osler Weber Rendu syndrome; ORW disease; Osler-Rendu-Weber disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0019180; MedGen: C0039445; OMIM: PS187300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000864150CSER _CC_NCGL, University of Washington - CSER - NEXT Medicine variant annotation
criteria provided, single submitter

(Amendola et al. (Genome Res. 2015))		Likely benign
(Jul 1, 2015) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedresearch

Citations

PubMed

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, et al.

Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30.

PubMed [citation]
PMID:
25637381
PMCID:
PMC4352885

Details of each submission

From CSER _CC_NCGL, University of Washington - CSER - NEXT Medicine variant annotation, SCV000864150.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

Found in patient having exome sequencing for an unrelated indication. Patient is a 56 year old female who reports no history of nosebleeds or telangiectasias. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review.

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

Last Updated: Sep 29, 2024