NM_001114753.3(ENG):c.1272+2T>C AND Hereditary hemorrhagic telangiectasia type 1

Clinical significance:Pathogenic (Last evaluated: Jan 4, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001286024.1

Allele description [Variation Report for NM_001114753.3(ENG):c.1272+2T>C]

NM_001114753.3(ENG):c.1272+2T>C

Genes:
ENG:endoglin [Gene - OMIM - HGNC]
LOC102723566:uncharacterized LOC102723566 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.1272+2T>C
HGVS:
  • NC_000009.12:g.127819898A>G
  • NG_009551.1:g.39871T>C
  • NM_000118.3:c.1272+2T>C
  • NM_001114753.3:c.1272+2T>CMANE SELECT
  • NM_001278138.2:c.726+2T>C
  • LRG_589t1:c.1272+2T>C
  • LRG_589:g.39871T>C
  • NC_000009.11:g.130582177A>G
Links:
Molecular consequence:
  • NM_000118.3:c.1272+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001114753.3:c.1272+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001278138.2:c.726+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Hereditary hemorrhagic telangiectasia type 1 (HHT1)
Synonyms:
Osler Weber Rendu syndrome type 1
Identifiers:
MONDO: MONDO:0008535; MedGen: C4551861; Orphanet: 774; OMIM: 187300

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001472542ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Pathogenic
(Jan 4, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001472542.1

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

Description

The ENG c.1272+2T>C variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant disrupts the canonical splice donor site of intron 9, which is likely to negatively impact gene function. Based on available information, this variant is considered to be pathogenic.

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

Last Updated: Apr 12, 2021

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