U.S. flag

An official website of the United States government

NM_001114753.3(ENG):c.1134+1G>T AND Cardiovascular phenotype

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 14, 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:
RCV002324714.1

Allele description

NM_001114753.3(ENG):c.1134+1G>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.1134+1G>T
HGVS:
  • NC_000009.12:g.127824303C>A
  • NG_009551.1:g.35466G>T
  • NM_000118.4:c.1134+1G>T
  • NM_001114753.3:c.1134+1G>TMANE SELECT
  • NM_001278138.2:c.588+1G>T
  • NM_001406715.1:c.1135G>T
  • NP_001393644.1:p.Val379Leu
  • LRG_589:g.35466G>T
  • NC_000009.11:g.130586582C>A
  • NM_001114753.1:c.1134+1G>T
Protein change:
V379L
Molecular consequence:
  • NM_001406715.1:c.1135G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000118.4:c.1134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001114753.3:c.1134+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001278138.2:c.588+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002610277Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Likely pathogenic
(Sep 14, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV002610277.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.1134+1G>T intronic variant results from a G to T substitution one nucleotide after coding exon 8 of the ENG gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

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

Last Updated: Jun 10, 2023