NM_001114753.3(ENG):c.1029_1030delinsTC (p.Thr344Pro) AND Hereditary hemorrhagic telangiectasia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 27, 2020
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:: RCV001373164.7

Allele description [Variation Report for NM_001114753.3(ENG):c.1029_1030delinsTC (p.Thr344Pro)]

NM_001114753.3(ENG):c.1029_1030delinsTC (p.Thr344Pro)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001114753.3(ENG):c.1029_1030delinsTC (p.Thr344Pro)

HGVS:

NC_000009.12:g.127824408_127824409delinsGA
NG_009551.1:g.35360_35361delinsTC
NM_000118.4:c.1029_1030delCAinsTC
NM_001114753.3:c.1029_1030delinsTCMANE SELECT
NM_001278138.2:c.483_484delinsTC
NM_001406715.1:c.1029_1030delCAinsTC
NP_000109.1:p.Thr344Pro
NP_000109.1:p.Thr344Pro
NP_001108225.1:p.Thr344Pro
NP_001108225.1:p.Thr344Pro
NP_001265067.1:p.Thr162Pro
NP_001393644.1:p.Thr344Pro
LRG_589t1:c.1029_1030delinsTC
LRG_589t2:c.1029_1030delCAinsTC
LRG_589:g.35360_35361delinsTC
LRG_589p1:p.Thr344Pro
LRG_589p2:p.Thr344Pro
NC_000009.11:g.130586687_130586688delinsGA
NM_000118.3:c.1029_1030delinsTC
NM_001114753.2:c.1029_1030delCAinsTC

Protein change:

T162P

Links:

dbSNP: rs2131885993

NCBI 1000 Genomes Browser:

rs2131885993

Molecular consequence:

NM_000118.4:c.1029_1030delCAinsTC - missense variant - [Sequence Ontology: SO:0001583]
NM_001114753.3:c.1029_1030delinsTC - missense variant - [Sequence Ontology: SO:0001583]
NM_001278138.2:c.483_484delinsTC - missense variant - [Sequence Ontology: SO:0001583]
NM_001406715.1:c.1029_1030delCAinsTC - missense variant - [Sequence Ontology: SO:0001583]

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

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KIRREL1 [Balaenoptera musculus]
KIRREL1 [Balaenoptera musculus]
Gene ID:118902996

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001569868	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 27, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001569868

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 27, 2020)

germline

clinical testing

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

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

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001569868.3

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with ENG-related conditions. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This sequence change replaces threonine with proline at codon 344 of the ENG protein (p.Thr344Pro). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and proline.

#	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: Sep 29, 2024

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