NM_000020.3(ACVRL1):c.*45del AND Telangiectasia, hereditary hemorrhagic, type 2

Clinical significance:Likely benign (Last evaluated: Mar 9, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000755783.2

Allele description [Variation Report for NM_000020.3(ACVRL1):c.*45del]

NM_000020.3(ACVRL1):c.*45del

Gene:
ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_000020.3(ACVRL1):c.*45del
HGVS:
  • NC_000012.12:g.51920938del
  • NG_009549.1:g.18521del
  • NM_000020.3:c.*45delMANE SELECT
  • NM_001077401.2:c.*45del
  • LRG_543:g.18521del
  • NC_000012.11:g.52314722del
  • NC_000012.11:g.52314722delG
  • NM_000020.2:c.*45delG
Links:
dbSNP: rs761647766
NCBI 1000 Genomes Browser:
rs761647766
Molecular consequence:
  • NM_000020.3:c.*45del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001077401.2:c.*45del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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
SCV000883355ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely benign
(Mar 9, 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, SCV000883355.2

#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 25, 2021

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