NM_000118.3(ENG):c.1762G>A (p.Val588Ile) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Nov 15, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000414391.1

Allele description [Variation Report for NM_000118.3(ENG):c.1762G>A (p.Val588Ile)]

NM_000118.3(ENG):c.1762G>A (p.Val588Ile)

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_000118.3(ENG):c.1762G>A (p.Val588Ile)
HGVS:
  • NC_000009.12:g.127816033C>T
  • NG_009551.1:g.43736G>A
  • NG_023245.1:g.18159C>T
  • NM_000118.3:c.1762G>A
  • NM_001114753.2:c.1762G>A
  • NM_001278138.1:c.1216G>A
  • NP_000109.1:p.Val588Ile
  • NP_001108225.1:p.Val588Ile
  • NP_001265067.1:p.Val406Ile
  • LRG_589t1:c.1762G>A
  • LRG_589t2:c.1762G>A
  • LRG_589:g.43736G>A
  • LRG_589p1:p.Val588Ile
  • LRG_589p2:p.Val588Ile
  • NC_000009.11:g.130578312C>T
  • NM_000118.2:c.1762G>A
Protein change:
V406I
Links:
dbSNP: rs201768056
NCBI 1000 Genomes Browser:
rs201768056
Molecular consequence:
  • NM_000118.3:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114753.2:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278138.1:c.1216G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000491731GeneDxcriteria provided, single submitter
Uncertain significance
(Nov 15, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000491731.1

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

Description

The V588I variant of uncertain significance in the ENG gene has not been published as a pathogenicor benign variant to our knowledge. However, it is classified in ClinVar as a variant of uncertainsignificance in association with HHT by another clinical laboratory (ClinVar SCV000283532.1;Landrum et al., 2016). This variant was not observed in approximately 6,500 individuals of Europeanand African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not acommon benign variant in these populations. The V588I variant is a conservative amino acidsubstitution, which is not likely to impact secondary protein structure as these residues share similarproperties. This substitution also occurs at a position that is not conserved. Consequently, themajority of in silico tools predict V588I likely does not alter the protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant ispathogenic or rare benign.

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

Last Updated: Oct 8, 2021

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