NM_001114753.3(ENG):c.534_536del (p.Leu179del) AND Hereditary hemorrhagic telangiectasia

Clinical significance:Uncertain significance (Last evaluated: Aug 28, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000809799.1

Allele description [Variation Report for NM_001114753.3(ENG):c.534_536del (p.Leu179del)]

NM_001114753.3(ENG):c.534_536del (p.Leu179del)

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.534_536del (p.Leu179del)
HGVS:
  • NC_000009.12:g.127825848_127825850del
  • NG_009551.1:g.33919_33921del
  • NM_000118.3:c.534_536del
  • NM_001114753.3:c.534_536delMANE SELECT
  • NM_001278138.2:c.-13_-11del
  • NP_000109.1:p.Leu179del
  • NP_001108225.1:p.Leu179del
  • LRG_589t1:c.534_536del
  • LRG_589:g.33919_33921del
  • LRG_589p1:p.Leu179del
  • NC_000009.11:g.130588127_130588129del
  • NM_000118.3:c.534_536delACT
Protein change:
L179del
Links:
dbSNP: rs1285249384
NCBI 1000 Genomes Browser:
rs1285249384
Molecular consequence:
  • NM_001278138.2:c.-13_-11del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000118.3:c.534_536del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001114753.3:c.534_536del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Hereditary hemorrhagic telangiectasia (HHT)
Synonyms:
Osler Weber Rendu syndrome; ORW disease; Osler-Rendu-Weber disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0019180; MedGen: C0039445; OMIM: PS187300

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000949974Invitaecriteria provided, single submitter
Uncertain significance
(Aug 28, 2018)
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, SCV000949974.1

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

Description

This variant, c.534_536delACT, results in the deletion of 1 amino acid of the ENG protein (p.Leu179del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ENG-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 25, 2021

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