NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly) AND Hereditary hemorrhagic telangiectasia type 1

Clinical significance:Uncertain significance (Last evaluated: May 29, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001286121.1

Allele description [Variation Report for NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly)]

NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly)

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.1216C>G (p.Arg406Gly)
HGVS:
  • NC_000009.12:g.127819956G>C
  • NG_009551.1:g.39813C>G
  • NM_000118.3:c.1216C>G
  • NM_001114753.3:c.1216C>GMANE SELECT
  • NM_001278138.2:c.670C>G
  • NP_000109.1:p.Arg406Gly
  • NP_001108225.1:p.Arg406Gly
  • NP_001265067.1:p.Arg224Gly
  • LRG_589t1:c.1216C>G
  • LRG_589:g.39813C>G
  • LRG_589p1:p.Arg406Gly
  • NC_000009.11:g.130582235G>C
Protein change:
R224G
Links:
Molecular consequence:
  • NM_000118.3:c.1216C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114753.3:c.1216C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278138.2:c.670C>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
SCV001472647ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(May 29, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001472647.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The ENG c.1216C>G; p.Arg406Gly variant (rs751787590), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The arginine at codon 406 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of this variant is uncertain at this time.

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

Last Updated: Apr 12, 2021

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