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NM_000118.3(ENG):c.68-1G>A AND Osler hemorrhagic telangiectasia syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 17, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000232191.1

Allele description

NM_000118.3(ENG):c.68-1G>A

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_000118.3(ENG):c.68-1G>A
HGVS:
  • NC_000009.12:g.127843246C>T
  • NG_009551.1:g.16523G>A
  • NM_000118.3:c.68-1G>A
  • NM_001114753.2:c.68-1G>A
  • LRG_589t1:c.68-1G>A
  • LRG_589t2:c.68-1G>A
  • LRG_589:g.16523G>A
  • NC_000009.11:g.130605525C>T
  • NM_000118.2:c.68-1G>A
Links:
dbSNP: rs878853659
NCBI 1000 Genomes Browser:
rs878853659
Molecular consequence:
  • NM_000118.3:c.68-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Osler hemorrhagic telangiectasia syndrome (HHT1)
Synonyms:
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER
Identifiers:
MedGen: C4551861; Orphanet: 774; OMIM: 187300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000283540Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Mar 17, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000283540.2

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

Description

This sequence change affects an acceptor splice site in intron 1 of the ENG gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. Truncating variants in ENG are known to be pathogenic (PMID: 21158752, 12673790). This particular variant has been identified in a patient with confirmed hereditary hemorrhagic telangiectasia (PMID: 15024723). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Jan 26, 2019