NM_001114753.3(ENG):c.1852+21C>G AND Hereditary hemorrhagic telangiectasia type 1

Clinical significance:Uncertain significance (Last evaluated: Oct 14, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000699684.3

Allele description [Variation Report for NM_001114753.3(ENG):c.1852+21C>G]

NM_001114753.3(ENG):c.1852+21C>G

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.1852+21C>G
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_000118.3:c.1873C>G
  • NM_001114753.3:c.1852+21C>GMANE SELECT
  • NM_001278138.2:c.1306+21C>G
  • NP_000109.1:p.Gln625Glu
  • NP_000109.1:p.Gln625Glu
  • LRG_589t1:c.1873C>G
  • LRG_589t1:c.1873C>G
  • LRG_589:g.43847C>G
  • LRG_589p1:p.Gln625Glu
  • LRG_589p1:p.Gln625Glu
  • NC_000009.11:g.130578201G>C
  • NC_000009.11:g.130578201G>C
Protein change:
Q625E
Links:
dbSNP: rs147188969
NCBI 1000 Genomes Browser:
rs147188969
Molecular consequence:
  • NM_001114753.3:c.1852+21C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001278138.2: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 type 1 (HHT1)
Synonyms:
Osler Weber Rendu syndrome type 1
Identifiers:
MONDO: MONDO:0008535; MedGen: C4551861; Orphanet: 774; OMIM: 187300

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001167230Johns Hopkins Genomics, Johns Hopkins Universitycriteria provided, single submitter
Uncertain significance
(Oct 14, 2019)
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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Johns Hopkins Genomics, Johns Hopkins University, SCV001167230.1

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

Description

This ENG variant (rs147188969) is rare (<0.1%) in a large population dataset (gnomAD: 10/237498 total alleles; 0.004211%; no homozygotes). A single submitter in ClinVar classifies this variant as uncertain and p.Gln625Glu has not been reported in the literature to our knowledge. Of two bioinformatics tools queried, one predicts that the substitution would be damaging, while the other predicts that it would be benign. The glutamine residue at this position is evolutionarily conserved across some species, but not all. Due to lack of segregation and functional data, we consider the clinical significance of c.1873C>G to be uncertain at this time.

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

Last Updated: Oct 25, 2021

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