NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) AND Hereditary hemorrhagic telangiectasia type 1

Clinical significance:Benign (Last evaluated: Apr 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001166478.1

Allele description [Variation Report for NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)]

NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)

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.1633G>A (p.Gly545Ser)
Other names:
NP_001108225.1:p.G545S
HGVS:
  • NC_000009.12:g.127818173C>T
  • NG_009551.1:g.41596G>A
  • NM_000118.3:c.1633G>A
  • NM_001114753.2:c.1633G>A
  • NM_001114753.3:c.1633G>AMANE SELECT
  • NM_001278138.2:c.1087G>A
  • NP_000109.1:p.Gly545Ser
  • NP_001108225.1:p.Gly545Ser
  • NP_001108225.1:p.Gly545Ser
  • NP_001265067.1:p.Gly363Ser
  • LRG_589t1:c.1633G>A
  • LRG_589t2:c.1633G>A
  • LRG_589:g.41596G>A
  • LRG_589p1:p.Gly545Ser
  • LRG_589p2:p.Gly545Ser
  • NC_000009.11:g.130580452C>T
  • NM_001114753.1:c.1633G>A
  • NP_001108225.1:p.G545S
  • P17813:p.Gly545Ser
Protein change:
G363S
Links:
UniProtKB: P17813#VAR_070302; dbSNP: rs142896669
NCBI 1000 Genomes Browser:
rs142896669
Molecular consequence:
  • NM_000118.3:c.1633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114753.2:c.1633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114753.3:c.1633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278138.2:c.1087G>A - 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
SCV001328859Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Apr 28, 2017)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Mutation in BMPR2 Promoter: A 'Second Hit' for Manifestation of Pulmonary Arterial Hypertension?

Viales RR, Eichstaedt CA, Ehlken N, Fischer C, Lichtblau M, Grünig E, Hinderhofer K.

PLoS One. 2015;10(7):e0133042. doi: 10.1371/journal.pone.0133042.

PubMed [citation]
PMID:
26167679
PMCID:
PMC4500409

Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension.

Pfarr N, Fischer C, Ehlken N, Becker-Grünig T, López-González V, Gorenflo M, Hager A, Hinderhofer K, Miera O, Nagel C, Schranz D, Grünig E.

Respir Res. 2013 Jan 9;14:3. doi: 10.1186/1465-9921-14-3.

PubMed [citation]
PMID:
23298310
PMCID:
PMC3547748
See all PubMed Citations (3)

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001328859.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

Last Updated: Oct 30, 2021

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