NM_001114753.3(ENG):c.388C>T (p.Pro130Ser) AND Telangiectasia, hereditary hemorrhagic, type 1

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Jan 1, 2018
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001167064.7

Allele description [Variation Report for NM_001114753.3(ENG):c.388C>T (p.Pro130Ser)]

NM_001114753.3(ENG):c.388C>T (p.Pro130Ser)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001114753.3(ENG):c.388C>T (p.Pro130Ser)

HGVS:

NC_000009.12:g.127826645G>A
NG_009551.1:g.33124C>T
NM_000118.4:c.388C>T
NM_001114753.3:c.388C>TMANE SELECT
NM_001278138.2:c.-159C>T
NM_001406715.1:c.388C>T
NP_000109.1:p.Pro130Ser
NP_000109.1:p.Pro130Ser
NP_001108225.1:p.Pro130Ser
NP_001108225.1:p.Pro130Ser
NP_001393644.1:p.Pro130Ser
LRG_589t1:c.388C>T
LRG_589t2:c.388C>T
LRG_589:g.33124C>T
LRG_589p1:p.Pro130Ser
LRG_589p2:p.Pro130Ser
NC_000009.11:g.130588924G>A
NM_000118.3:c.388C>T
NM_001114753.1:c.388C>T
NM_001114753.2:c.388C>T

Protein change:

P130S

Links:

dbSNP: rs199840979

NCBI 1000 Genomes Browser:

rs199840979

Molecular consequence:

NM_001278138.2:c.-159C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000118.4:c.388C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001114753.3:c.388C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406715.1:c.388C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001329505	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Benign (Apr 28, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV001441138	NIHR Bioresource Rare Diseases, University of Cambridge	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (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

SCV001329505

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Benign
(Apr 28, 2017)

germline

clinical testing

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

Citation Link,

SCV001441138

NIHR Bioresource Rare Diseases, University of Cambridge

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.

Lenato GM, Lastella P, Di Giacomo MC, Resta N, Suppressa P, Pasculli G, Sabbà C, Guanti G.

Hum Mutat. 2006 Feb;27(2):213-4.

PubMed [citation]

PMID:: 16429404

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 Illumina Laboratory Services, Illumina, SCV001329505.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

#	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

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001441138.1

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

Description

BS1 +BP2

#	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: Oct 20, 2024

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