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NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr) AND Telangiectasia, hereditary hemorrhagic, type 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 2018
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:
RCV001262078.1

Allele description [Variation Report for NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr)]

NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr)

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.269G>A (p.Cys90Tyr)
Other names:
p.C90Y:TGC>TAC
HGVS:
  • NC_000012.12:g.51913306G>A
  • NG_009549.1:g.10889G>A
  • NM_000020.3:c.269G>AMANE SELECT
  • NM_001077401.2:c.269G>A
  • NP_000011.2:p.Cys90Tyr
  • NP_000011.2:p.Cys90Tyr
  • NP_001070869.1:p.Cys90Tyr
  • LRG_543t1:c.269G>A
  • LRG_543:g.10889G>A
  • LRG_543p1:p.Cys90Tyr
  • NC_000012.11:g.52307090G>A
  • NM_000020.2:c.269G>A
Protein change:
C90Y
Links:
dbSNP: rs863223410
NCBI 1000 Genomes Browser:
rs863223410
Molecular consequence:
  • NM_000020.3:c.269G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077401.2:c.269G>A - 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
SCV001439463NIHR Bioresource Rare Diseases, University of Cambridge
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 1, 2018) 		unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedresearch

Citations

PubMed

Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.

Shovlin CL, Simeoni I, Downes K, Frazer ZC, Megy K, Bernabeu-Herrero ME, Shurr A, Brimley J, Patel D, Kell L, Stephens J, Turbin IG, Aldred MA, Penkett CJ, Ouwehand WH, Jovine L, Turro E.

Blood. 2020 Oct 22;136(17):1907-1918. doi: 10.1182/blood.2019004560.

PubMed [citation]
PMID:
32573726
PMCID:
PMC7717479

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001439463.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (2)

Description

PM2+PP2+PP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 1, 2024