NM_000020.3(ACVRL1):c.626-60_626-59delinsT AND Telangiectasia, hereditary hemorrhagic, type 2

Clinical significance:Benign (Last evaluated: Mar 12, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001285093.1

Allele description [Variation Report for NM_000020.3(ACVRL1):c.626-60_626-59delinsT]

NM_000020.3(ACVRL1):c.626-60_626-59delinsT

Gene:
ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_000020.3(ACVRL1):c.626-60_626-59delinsT
HGVS:
  • NC_000012.12:g.51914379_51914380delinsT
  • NG_009549.1:g.11962_11963delinsT
  • NM_000020.3:c.626-60_626-59delinsTMANE SELECT
  • NM_001077401.2:c.626-60_626-59delinsT
  • LRG_543:g.11962_11963delinsT
  • NC_000012.11:g.52308163_52308164delGGinsT
  • NC_000012.11:g.52308163_52308164delinsT
Links:
Molecular consequence:
  • NM_000020.3:c.626-60_626-59delinsT - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001077401.2:c.626-60_626-59delinsT - 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
SCV001471445ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Benign
(Mar 12, 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, SCV001471445.1

#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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