NM_001114753.3(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs) AND Hereditary hemorrhagic telangiectasia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 18, 2016
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:: RCV003153609.10

Allele description [Variation Report for NM_001114753.3(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs)]

NM_001114753.3(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001114753.3(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs)

HGVS:

NC_000009.12:g.127824378_127824409delinsCCACCAT
NG_009551.1:g.35360_35391delinsATGGTGG
NM_000118.4:c.1029_1060del32insATGGTGG
NM_001114753.3:c.1029_1060delinsATGGTGGMANE SELECT
NM_001278138.2:c.483_514delinsATGGTGG
NM_001406715.1:c.1029_1060del32insATGGTGG
NP_000109.1:p.Thr344Trpfs
NP_000109.1:p.Thr344fs
NP_001108225.1:p.Thr344Trpfs
NP_001108225.1:p.Thr344fs
NP_001265067.1:p.Thr162fs
NP_001393644.1:p.Thr344Trpfs
LRG_589t1:c.1029_1060delinsATGGTGG
LRG_589t2:c.1029_1060del32insATGGTGG
LRG_589:g.35360_35391delinsATGGTGG
LRG_589p1:p.Thr344fs
LRG_589p2:p.Thr344Trpfs
NC_000009.11:g.130586657_130586688delinsCCACCAT
NM_000118.3:c.1029_1060delinsATGGTGG
NM_001114753.2:c.1029_1060del32insATGGTGG

Protein change:

T162fs

Links:

dbSNP: rs1064792934

NCBI 1000 Genomes Browser:

rs1064792934

Molecular consequence:

NM_000118.4:c.1029_1060del32insATGGTGG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001114753.3:c.1029_1060delinsATGGTGG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278138.2:c.483_514delinsATGGTGG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406715.1:c.1029_1060del32insATGGTGG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary hemorrhagic telangiectasia (HHT)
Synonyms:: Osler Weber Rendu syndrome; ORW disease; Osler-Rendu-Weber disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0019180; MedGen: C0039445; OMIM: PS187300

Recent activity

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Mus musculus REC8 meiotic recombination protein (Rec8), transcript variant 1, mR...
Mus musculus REC8 meiotic recombination protein (Rec8), transcript variant 1, mRNA
gi|326368227|ref|NM_020002.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000546113	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 18, 2016)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 21158752, 12673790, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000546113

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 18, 2016)

germline

clinical testing

PubMed (3)
[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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.

McDonald J, Damjanovich K, Millson A, Wooderchak W, Chibuk JM, Stevenson DA, Gedge F, Bayrak-Toydemir P.

Clin Genet. 2011 Apr;79(4):335-44. doi: 10.1111/j.1399-0004.2010.01596.x. Epub 2010 Dec 16.

PubMed [citation]

PMID:: 21158752

Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia.

Cymerman U, Vera S, Karabegovic A, Abdalla S, Letarte M.

Hum Mutat. 2003 May;21(5):482-92.

PubMed [citation]

PMID:: 12673790

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000546113.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change deletes 32 nucleotides and inserts 7 unrelated ones in exon 8 of the ENG mRNA (c.1029_1060delinsATGGTGG ), causing a frameshift at codon 344. This creates a premature translational stop signal (p.Thr344Trpfs*7) and is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in ENG are known to be pathogenic (PMID: 21158752, 12673790).

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

Last Updated: Nov 3, 2024

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