NM_001114753.3(ENG):c.120C>T (p.Gly40=) AND Hereditary hemorrhagic telangiectasia type 1

Clinical significance:Benign/Likely benign (Last evaluated: Jul 31, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000231697.9

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_000118.3:c.120C>T
  • NM_001114753.2:c.120C>T
  • NM_001114753.3:c.120C>TMANE SELECT
  • NM_001278138.2:c.-427C>T
  • NP_000109.1:p.Gly40=
  • NP_001108225.1:p.Gly40=
  • NP_001108225.1: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_001114753.1: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_000118.3:c.120C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001114753.2:c.120C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001114753.3:c.120C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hereditary hemorrhagic telangiectasia 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 Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV000603474ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Benign
(Jul 31, 2018)
germlineclinical testing

Citation Link,

SCV000734644Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedLikely 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 Clinical Services Laboratory,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, SCV000603474.3

#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: Nov 11, 2021

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