NM_001114753.3(ENG):c.497A>C (p.Gln166Pro) AND Hereditary hemorrhagic telangiectasia type 1

Clinical significance:Uncertain significance (Last evaluated: Jan 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001263065.1

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 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
SCV001441142NIHR Bioresource Rare Diseases, University of Cambridgecriteria provided, single submitter
Uncertain significance
(Jan 1, 2018)
unknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedresearch

Citations

PubMed

Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.

Shovlin CL, Simeoni I, Downes K, Frazer ZC, Megy K, Bernabeu-Herrero ME, Shurr A, Brimley J, Patel D, Kell L, Stephens J, Turbin IG, Aldred MA, Penkett CJ, Ouwehand WH, Jovine L, Turro E.

Blood. 2020 Oct 22;136(17):1907-1918. doi: 10.1182/blood.2019004560.

PubMed [citation]
PMID:
32573726
PMCID:
PMC7717479

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 NIHR Bioresource Rare Diseases, University of Cambridge, SCV001441142.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (2)

Description

PM2+PP4+PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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