NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) AND Telangiectasia, hereditary hemorrhagic, type 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 12, 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:: RCV001285345.8

Allele description [Variation Report for NM_001114753.3(ENG):c.1319T>G (p.Val440Gly)]

NM_001114753.3(ENG):c.1319T>G (p.Val440Gly)

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.1319T>G (p.Val440Gly)

Other names:

p.Val440Gly

HGVS:

NC_000009.12:g.127818825A>C
NG_009551.1:g.40944T>G
NM_000118.4:c.1319T>G
NM_001114753.3:c.1319T>GMANE SELECT
NM_001278138.2:c.773T>G
NP_000109.1:p.Val440Gly
NP_000109.1:p.Val440Gly
NP_001108225.1:p.Val440Gly
NP_001108225.1:p.Val440Gly
NP_001265067.1:p.Val258Gly
LRG_589t1:c.1319T>G
LRG_589t2:c.1319T>G
LRG_589:g.40944T>G
LRG_589p1:p.Val440Gly
LRG_589p2:p.Val440Gly
NC_000009.11:g.130581104A>C
NM_000118.3:c.1319T>G
NM_001114753.1:c.1319T>G
NM_001114753.2:c.1319T>G

Protein change:

V258G

Links:

dbSNP: rs1554809363

NCBI 1000 Genomes Browser:

rs1554809363

Molecular consequence:

NM_000118.4:c.1319T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001114753.3:c.1319T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001278138.2:c.773T>G - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001471759	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Mar 12, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001471759

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Mar 12, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001471759.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The ENG c.1319T>G; p.Val440Gly variant, to our knowledge, is not reported in the medical literature but is reported in the ClinVar database (Variation ID: 528065). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The valine at codon 440 is a moderately conserved residue in the zona pellucida domain, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Additionally, a different variant at this codon (p.Val440Met) is reported in the HHT variant database (see link). However, due to limited information, the clinical significance of the p.Val440Gly variant is uncertain at this time. REFERENCES ENG HHT database link: https://arup.utah.edu/database/ENG/ENG_display.php

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 20, 2024

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