NM_000020.3(ACVRL1):c.1378-216C>T AND Telangiectasia, hereditary hemorrhagic, type 2

Clinical significance:Benign (Last evaluated: Aug 28, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001001705.2

Allele description [Variation Report for NM_000020.3(ACVRL1):c.1378-216C>T]

NM_000020.3(ACVRL1):c.1378-216C>T

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.1378-216C>T
HGVS:
  • NC_000012.12:g.51920543C>T
  • NG_009549.1:g.18126C>T
  • NM_000020.3:c.1378-216C>TMANE SELECT
  • NM_001077401.2:c.1378-216C>T
  • LRG_543:g.18126C>T
  • NC_000012.11:g.52314327C>T
Links:
dbSNP: rs111710113
NCBI 1000 Genomes Browser:
rs111710113
Molecular consequence:
  • NM_000020.3:c.1378-216C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001077401.2:c.1378-216C>T - intron variant - [Sequence Ontology: SO:0001627]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001159281ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Benign
(Aug 28, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001159281.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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