NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys) AND Hereditary hemorrhagic telangiectasia

Clinical significance:Uncertain significance (Last evaluated: May 23, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001053352.2

Allele description [Variation Report for NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)]

NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)

Genes:
ENG:endoglin [Gene - OMIM - HGNC]
LOC102723566:uncharacterized LOC102723566 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)
HGVS:
  • NC_000009.12:g.127817179G>A
  • NG_009551.1:g.42590C>T
  • NM_000118.3:c.1711C>T
  • NM_001114753.3:c.1711C>TMANE SELECT
  • NM_001278138.1:c.1165C>T
  • NP_000109.1:p.Arg571Cys
  • NP_001108225.1:p.Arg571Cys
  • NP_001265067.1:p.Arg389Cys
  • LRG_589t1:c.1711C>T
  • LRG_589:g.42590C>T
  • LRG_589p1:p.Arg571Cys
  • NC_000009.11:g.130579458G>A
  • NM_001114753.1:c.1711C>T
  • NR_136302.1:n.1114G>A
Protein change:
R389C
Links:
dbSNP: rs764262721
NCBI 1000 Genomes Browser:
rs764262721
Molecular consequence:
  • NM_000118.3:c.1711C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114753.3:c.1711C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278138.1:c.1165C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136302.1:n.1114G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV001217610Invitaecriteria provided, single submitter
Uncertain significance
(May 23, 2020)
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

Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.

Sweet K, Willis J, Zhou XP, Gallione C, Sawada T, Alhopuro P, Khoo SK, Patocs A, Martin C, Bridgeman S, Heinz J, Pilarski R, Lehtonen R, Prior TW, Frebourg T, Teh BT, Marchuk DA, Aaltonen LA, Eng C.

JAMA. 2005 Nov 16;294(19):2465-73.

PubMed [citation]
PMID:
16287957

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, SCV001217610.2

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

Description

This sequence change replaces arginine with cysteine at codon 571 of the ENG protein (p.Arg571Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs764262721, ExAC 0.02%). This variant has been observed in an individual affected with juvenile polyposis (PMID: 16287957). ClinVar contains an entry for this variant (Variation ID: 282707). 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: Probably 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: Jul 7, 2021

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