NM_000020.3(ACVRL1):c.623_624del (p.Val208fs) AND Telangiectasia, hereditary hemorrhagic, type 2

Clinical significance:Pathogenic (Last evaluated: Dec 24, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000470739.1

Allele description [Variation Report for NM_000020.3(ACVRL1):c.623_624del (p.Val208fs)]

NM_000020.3(ACVRL1):c.623_624del (p.Val208fs)

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.623_624del (p.Val208fs)
HGVS:
  • NC_000012.12:g.51914067TG[2]
  • NG_009549.1:g.11650TG[2]
  • NM_000020.3:c.623_624delMANE SELECT
  • NM_001077401.2:c.623_624del
  • NP_000011.2:p.Val208fs
  • NP_001070869.1:p.Val208fs
  • LRG_543:g.11650TG[2]
  • NC_000012.11:g.52307851TG[2]
  • NM_000020.2:c.623_624delTG
Protein change:
V208fs
Links:
dbSNP: rs1060503240
NCBI 1000 Genomes Browser:
rs1060503240
Molecular consequence:
  • NM_000020.3:c.623_624del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001077401.2:c.623_624del - 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
SCV000552405Invitaecriteria provided, single submitter
Pathogenic
(Dec 24, 2016)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000552405.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change deletes 2 nucleotides from exon 5 of the ACVRL1 mRNA (c.623_624delTG), causing a frameshift at codon 208. This creates a premature translational stop signal (p.Val208Glyfs*16) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in ACVRL1 are known to be pathogenic (PMID: 15879500). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Oct 7, 2021

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