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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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000477361Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV000603474ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)
Benign
(Nov 14, 2024)
germlineclinical testing

Citation Link,

SCV000734644Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus
no assertion criteria provided
Likely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000477361.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 25, 2025