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NM_001114753.3(ENG):c.2T>C (p.Met1Thr) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 25, 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:
RCV002433460.2

Allele description [Variation Report for NM_001114753.3(ENG):c.2T>C (p.Met1Thr)]

NM_001114753.3(ENG):c.2T>C (p.Met1Thr)

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.2T>C (p.Met1Thr)
HGVS:
  • NC_000009.12:g.127854354A>G
  • NG_009551.1:g.5415T>C
  • NM_000118.4:c.2T>C
  • NM_001114753.3:c.2T>CMANE SELECT
  • NM_001406715.1:c.2T>C
  • NP_000109.1:p.Met1Thr
  • NP_000109.1:p.Met1Thr
  • NP_001108225.1:p.Met1Thr
  • NP_001108225.1:p.Met1Thr
  • NP_001393644.1:p.Met1Thr
  • LRG_589t1:c.2T>C
  • LRG_589t2:c.2T>C
  • LRG_589:g.5415T>C
  • LRG_589p1:p.Met1Thr
  • LRG_589p2:p.Met1Thr
  • NC_000009.11:g.130616633A>G
  • NM_000118.3:c.2T>C
  • NM_001114753.1:c.2T>C
  • NM_001114753.2:c.2T>C
Protein change:
M1T; MET1THR
Links:
OMIM: 131195.0006; dbSNP: rs267606783
NCBI 1000 Genomes Browser:
rs267606783
Molecular consequence:
  • NM_001114753.3:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_000118.4:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114753.3:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406715.1:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002748825Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jul 25, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002748825.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.M1? pathogenic variant (also known as c.2T>C and p.M1T), located in coding exon 1 of the ENG gene, results from a T to C substitution at nucleotide position 2. This alters the methionine residue at the initiation codon. This alteration was identified in 2 unrelated individuals with hereditary hemorrhagic telangiectasia (HHT) (Gallione et al. J Hum Mutat. 1998;11(4):286-94). In addition to the clinical data presented in the literature, since sequence variations that modify the initiation codon (ATG) are expected to result in either loss of translation initiation, N-terminal truncation, or cause a shift in the mRNA reading frame, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024