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NM_001114753.3(ENG):c.1273-5C>T AND not specified

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Nov 22, 2021
Review status:
criteria provided, conflicting classifications
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:
RCV000506008.12

Allele description [Variation Report for NM_001114753.3(ENG):c.1273-5C>T]

NM_001114753.3(ENG):c.1273-5C>T

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.1273-5C>T
HGVS:
  • NC_000009.12:g.127819665G>A
  • NG_009551.1:g.40104C>T
  • NM_000118.4:c.1273-5C>T
  • NM_001114753.3:c.1273-5C>TMANE SELECT
  • NM_001278138.2:c.727-5C>T
  • LRG_589t1:c.1273-5C>T
  • LRG_589:g.40104C>T
  • NC_000009.11:g.130581944G>A
  • NM_000118.3:c.1273-5C>T
Links:
dbSNP: rs779103881
NCBI 1000 Genomes Browser:
rs779103881
Molecular consequence:
  • NM_000118.4:c.1273-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001114753.3:c.1273-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001278138.2:c.727-5C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000603452ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)
Benign
(Sep 19, 2016)
germlineclinical testing

Citation Link,

SCV002065740Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Nov 22, 2021)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000603452.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Genetic Services Laboratory, University of Chicago, SCV002065740.1

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

Description

DNA sequence analysis of the ENG gene demonstrated a sequence change in intron 9, c.1273-5C>T. This sequence change has been described in the gnomAD database in one individual which corresponds to a population frequency of 0.00042% (dbSNP rs779103881). This sequence change is not predicted to have a deleterious effect on splicing based on in-silico splice prediction programs. This change does not appear to have been previously described in individuals with ENG-related disorders. It is possible that this sequence change represents a benign sequence change in the ENG gene that has not been identified to date. The functional significance of this sequence change is not known at present and its contribution to this individual's disease phenotype cannot definitively be determined.

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

Last Updated: Feb 28, 2024