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NM_001114753.3(ENG):c.-10C>T AND Cardiovascular phenotype

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 4, 2022
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:
RCV002430065.1

Allele description

NM_001114753.3(ENG):c.-10C>T

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.-10C>T
HGVS:
  • NC_000009.12:g.127854365G>A
  • NG_009551.1:g.5404C>T
  • NM_000118.4:c.-10C>T
  • NM_001114753.3:c.-10C>TMANE SELECT
  • NM_001406715.1:c.-10C>T
  • LRG_589t1:c.-10C>T
  • LRG_589t2:c.-10C>T
  • LRG_589:g.5404C>T
  • NC_000009.11:g.130616644G>A
  • NM_000118.3:c.-10C>T
  • NM_001114753.1:c.-10C>T
  • NM_001114753.2:c.-10C>T
Links:
dbSNP: rs756994701
NCBI 1000 Genomes Browser:
rs756994701
Molecular consequence:
  • NM_001114753.3:c.-10C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002741797Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Likely pathogenic
(Feb 4, 2022) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Details of each submission

From Ambry Genetics, SCV002741797.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The c.-10C>T variant is located in the 5' untranslated region (5’ UTR) of the ENG gene. This variant results from a C to T substitution 10 bases upstream from the first translated codon. The variant was reported in an individual with recurrent epistaxis, pulmonary arteriovenous malformation, and a suggestive family history of hereditary hemorrhagic telangiectasia (HHT) (Bossler AD et al. Hum Mutat, 2006 Jul;27:667-75). In addition, this variant was detected in multiple individuals with symptoms or diagnosis of HHT (Ambry internal data). This alteration has the potential to create an upstream out-of-frame start codon and create a nonfunctional protein; however, direct evidence is not available at this time (Bossler AD et al. Hum Mutat, 2006 Jul;27:667-75). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is poorly conserved in available vertebrate species. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 10, 2024