NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly) AND Telangiectasia, hereditary hemorrhagic, type 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 29, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:

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

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

ENG:endoglin [Gene - OMIM - HGNC]
LOC102723566:uncharacterized LOC102723566 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly)
  • NC_000009.12:g.127819956G>C
  • NG_009551.1:g.39813C>G
  • NM_000118.4:c.1216C>G
  • NM_001114753.3:c.1216C>GMANE SELECT
  • NM_001278138.2:c.670C>G
  • NP_000109.1:p.Arg406Gly
  • NP_000109.1:p.Arg406Gly
  • NP_001108225.1:p.Arg406Gly
  • NP_001108225.1:p.Arg406Gly
  • NP_001265067.1:p.Arg224Gly
  • LRG_589t1:c.1216C>G
  • LRG_589t2:c.1216C>G
  • LRG_589:g.39813C>G
  • LRG_589p1:p.Arg406Gly
  • LRG_589p2:p.Arg406Gly
  • NC_000009.11:g.130582235G>C
  • NM_000118.3:c.1216C>G
  • NM_001114753.2:c.1216C>G
Protein change:
dbSNP: rs751787590
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000118.4: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]


Telangiectasia, hereditary hemorrhagic, type 1 (HHT1)
Osler Weber Rendu syndrome type 1
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)
SCV001472647ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)
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


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.

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

Last Updated: Feb 20, 2024