NM_001114753.3(ENG):c.523+229_991+123del AND Telangiectasia, hereditary hemorrhagic, type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001262044.3

Allele description [Variation Report for NM_001114753.3(ENG):c.523+229_991+123del]

NM_001114753.3(ENG):c.523+229_991+123del

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001114753.3(ENG):c.523+229_991+123del

HGVS:

NC_000009.12:g.127824679_127826283del
NG_009551.1:g.33488_35092del
NG_117586.1:g.2_431del
NM_000118.4:c.523+229_991+123del
NM_001114753.3:c.523+229_991+123delMANE SELECT
NM_001278138.2:c.-24+229_445+123del
NM_001406715.1:c.523+229_991+123del
LRG_589:g.33488_35092del
NC_000009.11:g.130586958_130588562del

Molecular consequence:

NM_001278138.2:c.-24+229_445+123del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_000118.4:c.523+229_991+123del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001114753.3:c.523+229_991+123del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001278138.2:c.-24+229_445+123del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406715.1:c.523+229_991+123del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_000118.4:c.523+229_991+123del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001114753.3:c.523+229_991+123del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001278138.2:c.-24+229_445+123del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001406715.1:c.523+229_991+123del - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV001439422	NIHR Bioresource Rare Diseases, University of Cambridge	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2018)	unknown	research	PubMed (2) [See all records that cite these PMIDs] 32573726, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001439422

NIHR Bioresource Rare Diseases, University of Cambridge

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2018)

unknown

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001439422.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (2)

Description

PVS1+PM2+PP4

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

Last Updated: Sep 3, 2023

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