NM_004247.3(EFTUD2):c.271+3A>G AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Apr 2, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000487160.1

Allele description

NM_004247.3(EFTUD2):c.271+3A>G

Gene:
EFTUD2:elongation factor Tu GTP binding domain containing 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_004247.3(EFTUD2):c.271+3A>G
HGVS:
  • NC_000017.11:g.44886582T>C
  • NG_032674.1:g.18044A>G
  • NM_004247.3:c.271+3A>G
  • NC_000017.10:g.42963950T>C
Links:
dbSNP: rs1064793395
NCBI 1000 Genomes Browser:
rs1064793395
Molecular consequence:
  • NM_004247.3:c.271+3A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000566013GeneDxcriteria provided, single submitter
Likely pathogenic
(Apr 2, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000566013.3

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

Description

The c.271+3A>G variant in the EFTUD2 gene has not been reported previously as a disease-causing variant nor as a benign polymorphism, to our knowledge. This variant is predicted to reduce the quality of the splice donor site in intron 3, and is expected to cause abnormal gene splicing. The c.271+3A>G variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.271+3A>G variant is a strong candidate for a disease-causing variant however the possibility it may be a rare benign variant cannot be excluded.

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

Last Updated: Mar 30, 2019

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