NM_001114753.3(ENG):c.219+22C>T AND Hereditary hemorrhagic telangiectasia type 1

Clinical significance:Conflicting interpretations of pathogenicity, Benign(2);Uncertain significance(1) (Last evaluated: Aug 10, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000227257.3

Allele description [Variation Report for NM_001114753.3(ENG):c.219+22C>T]

NM_001114753.3(ENG):c.219+22C>T

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.219+22C>T
HGVS:
  • NC_000009.12:g.127843072G>A
  • NG_009551.1:g.16697C>T
  • NM_000118.3:c.219+22C>T
  • NM_001114753.3:c.219+22C>TMANE SELECT
  • NM_001278138.1:c.-328+22C>T
  • LRG_589t1:c.219+22C>T
  • LRG_589:g.16697C>T
  • NC_000009.11:g.130605351G>A
  • NM_001114753.1:c.219+22C>T
Links:
dbSNP: rs370257876
NCBI 1000 Genomes Browser:
rs370257876
Molecular consequence:
  • NM_000118.3:c.219+22C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001114753.3:c.219+22C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001278138.1:c.-328+22C>T - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000283536Invitaecriteria provided, single submitter
Benign
(Dec 30, 2015)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001156617ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Benign
(Aug 10, 2018)
germlineclinical testing

Citation Link,

SCV001439443NIHR Bioresource Rare Diseases, University of Cambridgecriteria provided, single submitter
Uncertain significance
(Jan 1, 2018)
unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedresearch
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.

Shovlin CL, Simeoni I, Downes K, Frazer ZC, Megy K, Bernabeu-Herrero ME, Shurr A, Brimley J, Patel D, Kell L, Stephens J, Turbin IG, Aldred MA, Penkett CJ, Ouwehand WH, Jovine L, Turro E.

Blood. 2020 Oct 22;136(17):1907-1918. doi: 10.1182/blood.2019004560.

PubMed [citation]
PMID:
32573726
PMCID:
PMC7717479
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000283536.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001156617.1

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

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001439443.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (2)

Description

PM2+PP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 10, 2021

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