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NM_001114753.3(ENG):c.1429-8C>G AND Telangiectasia, hereditary hemorrhagic, type 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 29, 2020
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:
RCV001286942.8

Allele description [Variation Report for NM_001114753.3(ENG):c.1429-8C>G]

NM_001114753.3(ENG):c.1429-8C>G

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.1429-8C>G
HGVS:
  • NC_000009.12:g.127818385G>C
  • NG_009551.1:g.41384C>G
  • NM_000118.4:c.1429-8C>G
  • NM_001114753.3:c.1429-8C>GMANE SELECT
  • NM_001278138.2:c.883-8C>G
  • LRG_589:g.41384C>G
  • NC_000009.11:g.130580664G>C
  • NR_136302.1:n.1452G>C
Links:
dbSNP: rs376169815
NCBI 1000 Genomes Browser:
rs376169815
Molecular consequence:
  • NM_000118.4:c.1429-8C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001114753.3:c.1429-8C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001278138.2:c.883-8C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NR_136302.1:n.1452G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Telangiectasia, hereditary hemorrhagic, 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
SCV001473571ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)
Uncertain significance
(Apr 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, SCV001473571.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The ENG c.1429-8C>G variant (rs376169815), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found on only four chromosomes (4/278642 alleles) in the Genome Aggregation Database. This is an intronic variant in a moderately conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical acceptor splice site; however, RNA studies would be required to confirm this. Given the lack of clinical and functional data, the significance of the c.1429-8C>G variant is uncertain at this time.

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

Last Updated: Feb 28, 2024