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NM_004247.4(EFTUD2):c.1542C>A (p.Tyr514Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 30, 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:
RCV000494392.1

Allele description [Variation Report for NM_004247.4(EFTUD2):c.1542C>A (p.Tyr514Ter)]

NM_004247.4(EFTUD2):c.1542C>A (p.Tyr514Ter)

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_004247.4(EFTUD2):c.1542C>A (p.Tyr514Ter)
HGVS:
  • NC_000017.11:g.44862778G>T
  • NG_032674.1:g.41848C>A
  • NM_001142605.2:c.1437C>A
  • NM_001258353.2:c.1542C>A
  • NM_001258354.2:c.1512C>A
  • NM_004247.4:c.1542C>AMANE SELECT
  • NP_001136077.1:p.Tyr479Ter
  • NP_001245282.1:p.Tyr514Ter
  • NP_001245283.1:p.Tyr504Ter
  • NP_004238.3:p.Tyr514Ter
  • NC_000017.10:g.42940146G>T
  • NM_004247.3:c.1542C>A
Protein change:
Y479*
Links:
dbSNP: rs749855263
NCBI 1000 Genomes Browser:
rs749855263
Molecular consequence:
  • NM_001142605.2:c.1437C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258353.2:c.1542C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258354.2:c.1512C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004247.4:c.1542C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000582566GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Sep 30, 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, SCV000582566.4

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

Description

The Y514X pathogenic variant in the EFTUD2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y514X 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. We interpret Y514X as a pathogenic variant.

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

Last Updated: Mar 16, 2024