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NM_004100.5(EYA4):c.578dup (p.Tyr193Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2019
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:
RCV000598820.3

Allele description [Variation Report for NM_004100.5(EYA4):c.578dup (p.Tyr193Ter)]

NM_004100.5(EYA4):c.578dup (p.Tyr193Ter)

Gene:
EYA4:EYA transcriptional coactivator and phosphatase 4 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6q23.2
Genomic location:
Preferred name:
NM_004100.5(EYA4):c.578dup (p.Tyr193Ter)
HGVS:
  • NC_000006.12:g.133462475dup
  • NG_011596.2:g.226119dup
  • NM_001301012.2:c.416dup
  • NM_001301013.2:c.578dup
  • NM_001370458.1:c.509dup
  • NM_001370459.1:c.416dup
  • NM_004100.5:c.578dupMANE SELECT
  • NM_172103.4:c.509dup
  • NM_172105.4:c.578dup
  • NP_001287941.1:p.Tyr139Ter
  • NP_001287942.1:p.Tyr193Ter
  • NP_001357387.1:p.Tyr170Ter
  • NP_001357388.1:p.Tyr139Ter
  • NP_004091.3:p.Tyr193Ter
  • NP_742101.2:p.Tyr170Ter
  • NP_742103.1:p.Tyr193Ter
  • LRG_418t1:c.578dup
  • LRG_418:g.226119dup
  • LRG_418p1:p.Tyr193Ter
  • NC_000006.11:g.133783613dup
  • NM_004100.4:c.578dup
  • NM_004100.4:c.578dupA
Protein change:
Y139*
Links:
dbSNP: rs1554261974
NCBI 1000 Genomes Browser:
rs1554261974
Molecular consequence:
  • NM_001301012.2:c.416dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001301013.2:c.578dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370458.1:c.509dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001370459.1:c.416dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004100.5:c.578dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_172103.4:c.509dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_172105.4:c.578dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000710311GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(May 1, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000710311.3

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

Description

Nonsense variant predicted to result in nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Apr 23, 2022