NM_001114753.3(ENG):c.1447G>A (p.Val483Ile) AND Telangiectasia, hereditary hemorrhagic, type 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 6, 2023
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:: RCV003640900.1

Allele description [Variation Report for NM_001114753.3(ENG):c.1447G>A (p.Val483Ile)]

NM_001114753.3(ENG):c.1447G>A (p.Val483Ile)

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.1447G>A (p.Val483Ile)

HGVS:

NC_000009.12:g.127818359C>T
NG_009551.1:g.41410G>A
NM_000118.4:c.1447G>A
NM_001114753.3:c.1447G>AMANE SELECT
NM_001278138.2:c.901G>A
NP_000109.1:p.Val483Ile
NP_000109.1:p.Val483Ile
NP_001108225.1:p.Val483Ile
NP_001108225.1:p.Val483Ile
NP_001265067.1:p.Val301Ile
LRG_589t1:c.1447G>A
LRG_589t2:c.1447G>A
LRG_589:g.41410G>A
LRG_589p1:p.Val483Ile
LRG_589p2:p.Val483Ile
NC_000009.11:g.130580638C>T
NM_000118.3:c.1447G>A
NM_001114753.2:c.1447G>A
NR_136302.1:n.1426C>T

Protein change:

V301I

Links:

dbSNP: rs141330288

NCBI 1000 Genomes Browser:

rs141330288

Molecular consequence:

NM_000118.4:c.1447G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001114753.3:c.1447G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001278138.2:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_136302.1:n.1426C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000883798	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Uncertain significance (Sep 6, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000883798

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Uncertain significance
(Sep 6, 2023)

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, SCV000883798.2

#	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.1447G>A; p.Val483Ile variant (rs141330288), to our knowledge, is not reported in the medical literature but is reported as likely benign in ClinVar (Variation ID: 414304). This variant is found in the general population with an overall allele frequency of 0.02% (48/274678 alleles) in the Genome Aggregation Database, with an increased frequency of 0.1% in East Asians. The valine at codon 483 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, given the lack of clinical and functional data, the significance of the p.Val483Ile variant is uncertain at this time.

#	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: Nov 3, 2024

ClinVar

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