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NM_001114753.3(ENG):c.895del (p.Leu299fs) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 25, 2017
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:
RCV002446937.2

Allele description [Variation Report for NM_001114753.3(ENG):c.895del (p.Leu299fs)]

NM_001114753.3(ENG):c.895del (p.Leu299fs)

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.895del (p.Leu299fs)
HGVS:
  • NC_000009.12:g.127824897del
  • NG_009551.1:g.34873del
  • NM_000118.4:c.894delC
  • NM_001114753.3:c.895delMANE SELECT
  • NM_001278138.2:c.349del
  • NM_001406715.1:c.894delC
  • NP_000109.1:p.Leu299Serfs
  • NP_000109.1:p.Leu299fs
  • NP_001108225.1:p.Leu299Serfs
  • NP_001108225.1:p.Leu299fs
  • NP_001265067.1:p.Leu117fs
  • NP_001393644.1:p.Leu299Serfs
  • LRG_589t1:c.895del
  • LRG_589t2:c.894del
  • LRG_589:g.34873del
  • LRG_589p1:p.Leu299fs
  • LRG_589p2:p.Leu299Serfs
  • NC_000009.11:g.130587176del
  • NM_000118.2:c.895delC
  • NM_000118.3:c.895del
  • NM_001114753.1:c.895delC
  • NM_001114753.2:c.894delC
  • NM_001114753.2:c.895delC
  • p.Leu299Serfs*60
Protein change:
L117fs
Links:
dbSNP: rs1064795636
NCBI 1000 Genomes Browser:
rs1064795636
Molecular consequence:
  • NM_000118.4:c.894delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001114753.3:c.895del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001278138.2:c.349del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406715.1:c.894delC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002682367Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jul 25, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002682367.2

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

Description

The c.895delC pathogenic mutation, located in coding exon 7 of the ENG gene, results from a deletion of one nucleotide at nucleotide position 895, causing a translational frameshift with a predicted alternate stop codon (p.L299Sfs*60). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 1, 2024