NM_000020.3(ACVRL1):c.295_298dup (p.Ser100fs) AND Telangiectasia, hereditary hemorrhagic, type 2

Clinical significance:Pathogenic (Last evaluated: Nov 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001285903.1

Allele description [Variation Report for NM_000020.3(ACVRL1):c.295_298dup (p.Ser100fs)]

NM_000020.3(ACVRL1):c.295_298dup (p.Ser100fs)

Gene:
ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_000020.3(ACVRL1):c.295_298dup (p.Ser100fs)
HGVS:
  • NC_000012.12:g.51913332GT[4]
  • NG_009549.1:g.10915GT[4]
  • NM_000020.3:c.295_298dupMANE SELECT
  • NM_001077401.2:c.295_298dup
  • NP_000011.2:p.Ser100fs
  • NP_001070869.1:p.Ser100fs
  • LRG_543:g.10915GT[4]
  • NC_000012.11:g.52307116GT[4]
  • NC_000012.11:g.52307116_52307119dupGTGT
Protein change:
S100fs
Links:
Molecular consequence:
  • NM_000020.3:c.295_298dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001077401.2:c.295_298dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001472408ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Pathogenic
(Nov 1, 2019)
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, SCV001472408.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The ACVRL1 c.295_298dupGTGT; p.Ser100fs variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by duplicating 4 nucleotides, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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