NM_000118.3(ENG):c.1873C>G (p.Gln625Glu) AND Hereditary hemorrhagic telangiectasia

Clinical significance:Uncertain significance (Last evaluated: May 27, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001201352.2

Allele description [Variation Report for NM_000118.3(ENG):c.1873C>G (p.Gln625Glu)]

NM_000118.3(ENG):c.1873C>G (p.Gln625Glu)

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_000118.3(ENG):c.1873C>G (p.Gln625Glu)
HGVS:
  • NC_000009.12:g.127815922G>C
  • NG_009551.1:g.43847C>G
  • NG_023245.1:g.18048G>C
  • NM_000118.3:c.1873C>G
  • NM_001114753.2:c.1852+21C>G
  • NM_001278138.1:c.1306+21C>G
  • NP_000109.1:p.Gln625Glu
  • LRG_589t1:c.1873C>G
  • LRG_589t2:c.1852+21C>G
  • LRG_589:g.43847C>G
  • LRG_589p1:p.Gln625Glu
  • NC_000009.11:g.130578201G>C
Protein change:
Q625E
Links:
dbSNP: rs147188969
NCBI 1000 Genomes Browser:
rs147188969
Molecular consequence:
  • NM_001114753.2:c.1852+21C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001278138.1:c.1306+21C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000118.3:c.1873C>G - 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
SCV000828407Invitaecriteria provided, single submitter
Uncertain significance
(May 27, 2020)
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, SCV000828407.3

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

Description

This sequence change replaces glutamine with glutamic acid at codon 625 of the ENG protein (p.Gln625Glu). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and glutamic acid. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with ENG-related conditions. ClinVar contains an entry for this variant (Variation ID: 577031). 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: Benign; 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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