NM_000020.2(ACVRL1):c.*45del AND Hereditary hemorrhagic telangiectasia type 1

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000369205.2

Allele description [Variation Report for NM_000020.2(ACVRL1):c.*45del]

NM_000020.2(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_000020.2(ACVRL1):c.*45del
HGVS:
  • NC_000012.12:g.51920938del
  • NG_009549.1:g.18521del
  • NM_000020.2:c.*45del
  • NM_001077401.2:c.*45del
  • LRG_543t1: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_000020.2: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:
Hereditary hemorrhagic telangiectasia type 1 (HHT1)
Synonyms:
Osler Weber Rendu syndrome type 1
Identifiers:
MONDO: MONDO:0008535; MedGen: C4551861; Orphanet: 774; OMIM: 187300

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000379835Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000379835.2

#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 8, 2021

Support Center