NM_001114753.3(ENG):c.1A>G (p.Met1Val) AND Telangiectasia, hereditary hemorrhagic, type 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 29, 2022
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:: RCV000469330.8

Allele description [Variation Report for NM_001114753.3(ENG):c.1A>G (p.Met1Val)]

NM_001114753.3(ENG):c.1A>G (p.Met1Val)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001114753.3(ENG):c.1A>G (p.Met1Val)

HGVS:

NC_000009.12:g.127854355T>C
NG_009551.1:g.5414A>G
NM_000118.4:c.1A>G
NM_001114753.3:c.1A>GMANE SELECT
NM_001406715.1:c.1A>G
NP_000109.1:p.Met1Val
NP_000109.1:p.Met1Val
NP_001108225.1:p.Met1Val
NP_001108225.1:p.Met1Val
NP_001393644.1:p.Met1Val
LRG_589t1:c.1A>G
LRG_589t2:c.1A>G
LRG_589:g.5414A>G
LRG_589p1:p.Met1Val
LRG_589p2:p.Met1Val
NC_000009.11:g.130616634T>C
NM_000118.3:c.1A>G
NM_001114753.1:c.1A>G
NM_001114753.2:c.1A>G
p.Met1?

Protein change:

M1V

Links:

dbSNP: rs1060501418

NCBI 1000 Genomes Browser:

rs1060501418

Molecular consequence:

NM_001114753.3:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_000118.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001114753.3:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406715.1:c.1A>G - 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
SCV001439441	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
SCV002583734	Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 29, 2022)	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

SCV001439441

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]

SCV002583734

Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 29, 2022)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	yes	2	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, SCV001439441.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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		2	not provided	not provided	not provided

From Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center, SCV002583734.2

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

Description

PVS1, PM2, PS4_moderate

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

Last Updated: Sep 29, 2024

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