NM_001114753.3(ENG):c.1337A>G (p.Asp446Gly) AND Hereditary hemorrhagic telangiectasia type 1

Clinical significance:Likely benign (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:
RCV001263062.1

Allele description [Variation Report for NM_001114753.3(ENG):c.1337A>G (p.Asp446Gly)]

NM_001114753.3(ENG):c.1337A>G (p.Asp446Gly)

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.1337A>G (p.Asp446Gly)
HGVS:
  • NC_000009.12:g.127818807T>C
  • NG_009551.1:g.40962A>G
  • NM_000118.3:c.1337A>G
  • NM_001114753.3:c.1337A>GMANE SELECT
  • NM_001278138.2:c.791A>G
  • NP_000109.1:p.Asp446Gly
  • NP_001108225.1:p.Asp446Gly
  • NP_001265067.1:p.Asp264Gly
  • LRG_589t1:c.1337A>G
  • LRG_589:g.40962A>G
  • LRG_589p1:p.Asp446Gly
  • NC_000009.11:g.130581086T>C
Protein change:
D264G
Links:
Molecular consequence:
  • NM_000118.3:c.1337A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114753.3:c.1337A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278138.2:c.791A>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
SCV001441137NIHR Bioresource Rare Diseases, University of Cambridgecriteria provided, single submitter
Likely benign
(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, SCV001441137.1

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

Description

BS1 +BP2

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

Last Updated: Apr 12, 2021

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