NM_001114753.3(ENG):c.120C>T (p.Gly40=) AND Telangiectasia, hereditary hemorrhagic, type 1

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Nov 14, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000231697.19

Allele description [Variation Report for NM_001114753.3(ENG):c.120C>T (p.Gly40=)]

NM_001114753.3(ENG):c.120C>T (p.Gly40=)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001114753.3(ENG):c.120C>T (p.Gly40=)

HGVS:

NC_000009.12:g.127843193G>A
NG_009551.1:g.16576C>T
NM_000118.4:c.120C>T
NM_001114753.3:c.120C>TMANE SELECT
NM_001278138.2:c.-427C>T
NM_001406715.1:c.120C>T
NP_000109.1:p.Gly40=
NP_000109.1:p.Gly40=
NP_001108225.1:p.Gly40=
NP_001108225.1:p.Gly40=
NP_001393644.1:p.Gly40=
LRG_589t1:c.120C>T
LRG_589t2:c.120C>T
LRG_589:g.16576C>T
LRG_589p1:p.Gly40=
LRG_589p2:p.Gly40=
NC_000009.11:g.130605472G>A
NM_000118.2:c.120C>T
NM_000118.3:c.120C>T
NM_001114753.1:c.120C>T
NM_001114753.2:c.120C>T
p.Gly40Gly

Links:

dbSNP: rs41522944

NCBI 1000 Genomes Browser:

rs41522944

Molecular consequence:

NM_001278138.2:c.-427C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000118.4:c.120C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001114753.3:c.120C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001406715.1:c.120C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000477361	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf, Citation Link,
SCV000603474	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Nov 14, 2024)	germline	clinical testing	Citation Link,
SCV000734644	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000477361

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV000603474

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Benign
(Nov 14, 2024)

germline

clinical testing

Citation Link,

SCV000734644

Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus

no assertion criteria provided

Likely benign

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000477361.2

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

#	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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000603474.4

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

#	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

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000734644.1

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

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

Last Updated: May 25, 2025

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