NM_001114753.3(ENG):c.1029C>T (p.Thr343=) AND Hereditary hemorrhagic telangiectasia type 1

Clinical significance:Benign/Likely benign (Last evaluated: Sep 1, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000321720.3

Allele description [Variation Report for NM_001114753.3(ENG):c.1029C>T (p.Thr343=)]

NM_001114753.3(ENG):c.1029C>T (p.Thr343=)

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.1029C>T (p.Thr343=)
Other names:
p.T343T:ACC>ACT
HGVS:
  • NC_000009.12:g.127824409G>A
  • NG_009551.1:g.35360C>T
  • NM_000118.3:c.1029C>T
  • NM_001114753.3:c.1029C>TMANE SELECT
  • NM_001278138.1:c.483C>T
  • NP_000109.1:p.Thr343=
  • NP_001108225.1:p.Thr343=
  • NP_001265067.1:p.Thr161=
  • LRG_589t1:c.1029C>T
  • LRG_589:g.35360C>T
  • LRG_589p1:p.Thr343=
  • NC_000009.11:g.130586688G>A
  • NM_000118.2:c.1029C>T
  • NM_001114753.1:c.1029C>T
  • p.Thr343Thr
Links:
dbSNP: rs3739817
NCBI 1000 Genomes Browser:
rs3739817
Molecular consequence:
  • NM_000118.3:c.1029C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001114753.3:c.1029C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001278138.1:c.483C>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
SCV000477336Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV000603449ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Benign
(Sep 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000477336.2

#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, SCV000603449.4

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

Last Updated: Aug 11, 2021

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