NM_001114753.3(ENG):c.1258A>G (p.Met420Val) AND Hereditary hemorrhagic telangiectasia type 1

Clinical significance:Uncertain significance (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001168716.1

Allele description [Variation Report for NM_001114753.3(ENG):c.1258A>G (p.Met420Val)]

NM_001114753.3(ENG):c.1258A>G (p.Met420Val)

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.1258A>G (p.Met420Val)
HGVS:
  • NC_000009.12:g.127819914T>C
  • NG_009551.1:g.39855A>G
  • NM_000118.3:c.1258A>G
  • NM_001114753.3:c.1258A>GMANE SELECT
  • NM_001278138.1:c.712A>G
  • NP_000109.1:p.Met420Val
  • NP_001108225.1:p.Met420Val
  • NP_001265067.1:p.Met238Val
  • LRG_589t1:c.1258A>G
  • LRG_589:g.39855A>G
  • LRG_589p1:p.Met420Val
  • NC_000009.11:g.130582193T>C
Protein change:
M238V
Links:
Molecular consequence:
  • NM_000118.3:c.1258A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114753.3:c.1258A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278138.1:c.712A>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
SCV001331326Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

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

Citations

PubMed

[Rendu-Osler-Weber syndrome: an rare cause of hypoxemia in children].

Balza OR, García-Guereta L, Vidal MD, Marín MJ, Pajares MP.

An Pediatr (Barc). 2010 Nov;73(5):272-6. doi: 10.1016/j.anpedi.2010.06.007. Epub 2010 Sep 1. Spanish.

PubMed [citation]
PMID:
20813596

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001331326.1

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

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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Oct 8, 2021

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