NM_001114753.3(ENG):c.1088G>A (p.Cys363Tyr) AND ENG-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 12, 2024
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003984260.2

Allele description [Variation Report for NM_001114753.3(ENG):c.1088G>A (p.Cys363Tyr)]

NM_001114753.3(ENG):c.1088G>A (p.Cys363Tyr)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001114753.3(ENG):c.1088G>A (p.Cys363Tyr)

HGVS:

NC_000009.12:g.127824350C>T
NG_009551.1:g.35419G>A
NM_000118.4:c.1088G>A
NM_001114753.3:c.1088G>AMANE SELECT
NM_001278138.2:c.542G>A
NM_001406715.1:c.1088G>A
NP_000109.1:p.Cys363Tyr
NP_000109.1:p.Cys363Tyr
NP_001108225.1:p.Cys363Tyr
NP_001108225.1:p.Cys363Tyr
NP_001265067.1:p.Cys181Tyr
NP_001393644.1:p.Cys363Tyr
LRG_589t1:c.1088G>A
LRG_589t2:c.1088G>A
LRG_589:g.35419G>A
LRG_589p1:p.Cys363Tyr
LRG_589p2:p.Cys363Tyr
NC_000009.11:g.130586629C>T
NM_000118.3:c.1088G>A
NM_001114753.1:c.1088G>A
NM_001114753.2:c.1088G>A

Protein change:

C181Y

Molecular consequence:

NM_000118.4:c.1088G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001114753.3:c.1088G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001278138.2:c.542G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406715.1:c.1088G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: ENG-related disorder
Synonyms:: ENG-related condition; ENG-Related Disorders
Identifiers:

Recent activity

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MULTISPECIES: 8-oxo-dGTP diphosphatase MutT [Basfia]
MULTISPECIES: 8-oxo-dGTP diphosphatase MutT [Basfia]
gi|499512870|ref|WP_011199510.1|

Protein
220 kDa polyprotein [African swine fever virus]
220 kDa polyprotein [African swine fever virus]
gi|9628199|ref|NP_042785.1|

Protein
Brassica juncea var. multiceps clone 3 internal transcribed spacer 1, partial se...
Brassica juncea var. multiceps clone 3 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|85001750|gb|DQ340647.1|

Nucleotide
zinc finger protein 9 (a cellular retroviral nucleic acid binding protein), isof...
zinc finger protein 9 (a cellular retroviral nucleic acid binding protein), isoform CRA_a [Homo sapiens]
gi|119599680|gb|EAW79274.1||gnl|WGS |hCP1781645

Protein
Cyprinella analostana voucher C3 small subunit ribosomal RNA gene, partial seque...
Cyprinella analostana voucher C3 small subunit ribosomal RNA gene, partial sequence; mitochondrial
gi|2282570912|gb|OP161448.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004797946	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Pathogenic (Jul 12, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004797946

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Pathogenic
(Jul 12, 2024)

germline

clinical testing

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 PreventionGenetics, part of Exact Sciences, SCV004797946.2

#	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.1088G>A variant is predicted to result in the amino acid substitution p.Cys363Tyr. This variant has been reported in a patient with hereditary hemorrhagic telangiectasia (HHT) (Paquet et al. 2001. PubMed ID: 11440987). This variant disrupts a cysteine residue within ENG, and functional studies of this variant showed that it led to protein misfolding and retention within the endoplasmic reticulum (Ali et al. 2011. PubMed ID: 22022569). This variant has not been reported in gnomAD, indicating this variant is rare. In addition, other variants impacting the same amino acid (p.Cys363Ser and p.Cys363Trp) have also been reported in patients with HHT (Bossler et al. 2006. PubMed ID: 16752392; Supplemental Table, Nishida. 2012. PubMed ID: 22991266; Kitayama et al. 2021. PubMed ID: 34872578). Based on this evidence, we interpret the c.1088G>A (p.Cys363Tyr) variant as pathogenic.

#	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: Oct 8, 2024

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