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NM_001114753.3(ENG):c.1742-15G>A AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 29, 2017
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:
RCV000616653.5

Allele description [Variation Report for NM_001114753.3(ENG):c.1742-15G>A]

NM_001114753.3(ENG):c.1742-15G>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.1742-15G>A
HGVS:
  • NC_000009.12:g.127816068C>T
  • NG_009551.1:g.43701G>A
  • NG_023245.1:g.18194C>T
  • NM_000118.4:c.1742-15G>A
  • NM_001114753.3:c.1742-15G>AMANE SELECT
  • NM_001278138.2:c.1196-15G>A
  • LRG_589:g.43701G>A
  • NC_000009.11:g.130578347C>T
  • NM_000118.2:c.1742-15G>A
  • NR_136302.1:n.3C>T
Links:
dbSNP: rs201678228
NCBI 1000 Genomes Browser:
rs201678228
Molecular consequence:
  • NM_000118.4:c.1742-15G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001114753.3:c.1742-15G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001278138.2:c.1196-15G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NR_136302.1:n.3C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000711317Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Sep 29, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000711317.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Benign. The c.1742-15G>A va riant in ENG has not been previously reported in individuals with pulmonary hype rtension, but has been identified in 8/18138 East Asian chromosomes by the Genom e Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs201678 228). This variant is located in the 3' splice region. Computational tools do no t suggest an impact to splicing. However, this information is not predictive eno ugh to rule out pathogenicity. In summary, while the clinical significance of th e c.1742-15G>A variant is uncertain, these data suggest that it is more likely t o be benign. ACMG/AMP Criteria applied: BP4 (Richards 2015).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Jan 13, 2025