NM_000118.3(ENG):c.1479C>A (p.Cys493Ter) AND Hereditary hemorrhagic telangiectasia type 1

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000513296.1

Allele description [Variation Report for NM_000118.3(ENG):c.1479C>A (p.Cys493Ter)]

NM_000118.3(ENG):c.1479C>A (p.Cys493Ter)

Genes:
ENG:endoglin [Gene - OMIM - HGNC]
LOC102723566:uncharacterized LOC102723566 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_000118.3(ENG):c.1479C>A (p.Cys493Ter)
HGVS:
  • NC_000009.12:g.127818327G>T
  • NG_009551.1:g.41442C>A
  • NM_000118.3:c.1479C>A
  • NM_001114753.2:c.1479C>A
  • NM_001278138.1:c.933C>A
  • NP_000109.1:p.Cys493Ter
  • NP_001108225.1:p.Cys493Ter
  • NP_001265067.1:p.Cys311Ter
  • LRG_589t1:c.1479C>A
  • LRG_589t2:c.1479C>A
  • LRG_589:g.41442C>A
  • LRG_589p1:p.Cys493Ter
  • LRG_589p2:p.Cys493Ter
  • NC_000009.11:g.130580606G>T
  • NR_136302.1:n.1394G>T
Protein change:
C311*
Links:
dbSNP: rs1197761705
NCBI 1000 Genomes Browser:
rs1197761705
Molecular consequence:
  • NR_136302.1:n.1394G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000118.3:c.1479C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001114753.2:c.1479C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001278138.1:c.933C>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

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
SCV000346038Genetics,Medical University of Viennano assertion criteria providedLikely pathogenicsomaticclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Genetics,Medical University of Vienna, SCV000346038.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 12, 2021

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