NM_001114753.3(ENG):c.497A>C (p.Gln166Pro) AND Hereditary hemorrhagic telangiectasia

Clinical significance:Uncertain significance (Last evaluated: Nov 25, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001035020.1

Allele description [Variation Report for NM_001114753.3(ENG):c.497A>C (p.Gln166Pro)]

NM_001114753.3(ENG):c.497A>C (p.Gln166Pro)

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.497A>C (p.Gln166Pro)
HGVS:
  • NC_000009.12:g.127826536T>G
  • NG_009551.1:g.33233A>C
  • NM_000118.3:c.497A>C
  • NM_001114753.3:c.497A>CMANE SELECT
  • NM_001278138.1:c.-50A>C
  • NP_000109.1:p.Gln166Pro
  • NP_001108225.1:p.Gln166Pro
  • LRG_589t1:c.497A>C
  • LRG_589:g.33233A>C
  • LRG_589p1:p.Gln166Pro
  • NC_000009.11:g.130588815T>G
Protein change:
Q166P
Links:
Molecular consequence:
  • NM_001278138.1:c.-50A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000118.3:c.497A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114753.3:c.497A>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001198325Invitaecriteria provided, single submitter
Uncertain significance
(Nov 25, 2019)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Hereditary hemorrhagic telangiectasia in Japanese patients.

Komiyama M, Ishiguro T, Yamada O, Morisaki H, Morisaki T.

J Hum Genet. 2014 Jan;59(1):37-41. doi: 10.1038/jhg.2013.113. Epub 2013 Nov 7.

PubMed [citation]
PMID:
24196379

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, SCV001198325.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change replaces glutamine with proline at codon 166 of the ENG protein (p.Gln166Pro). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with clinical features of hereditary hemorrhagic telangiectasia (PMID: 24196379). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 7, 2021

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