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NM_001114753.3(ENG):c.1272+1G>A AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 12, 2015
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:
RCV000196088.3

Allele description [Variation Report for NM_001114753.3(ENG):c.1272+1G>A]

NM_001114753.3(ENG):c.1272+1G>A

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+1G>A
HGVS:
  • NC_000009.12:g.127819899C>T
  • NG_009551.1:g.39870G>A
  • NM_000118.4:c.1272+1G>A
  • NM_001114753.3:c.1272+1G>AMANE SELECT
  • NM_001278138.2:c.726+1G>A
  • LRG_589:g.39870G>A
  • NC_000009.11:g.130582178C>T
  • NM_000118.2:c.1272+1G>A
Links:
dbSNP: rs773073663
NCBI 1000 Genomes Browser:
rs773073663
Molecular consequence:
  • NM_000118.4:c.1272+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001114753.3:c.1272+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001278138.2:c.726+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000250082GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(May 12, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000250082.14

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

Description

c.1272+1 G>A: IVS9+1 G>A in intron 9 of the ENG gene (NM_000118.2) Although the c.1272+1 G>A mutation has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge, this mutation destroys the canonical splice donor site in intron 9 and is predicted to cause abnormal gene splicing. The mutation is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Other splice site mutations in the ENG gene, including several involving the splice acceptor site in intron 9, have been reported in association with HHT. Further, the c.1272+1 G>A variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In summary, c.1272+1 G>A in the ENG gene is interpreted as a disease-causing mutation. This variant was found in HHT-PANCARD

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

Last Updated: Jun 10, 2023