NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) AND Hearing impairment

Clinical significance:Uncertain significance (Last evaluated: Apr 12, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001375139.1

Allele description [Variation Report for NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr)]

NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr)

Gene:
EYA1:EYA transcriptional coactivator and phosphatase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q13.3
Genomic location:
Preferred name:
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr)
HGVS:
  • NC_000008.11:g.71271859C>A
  • NG_011735.2:g.95374G>T
  • NG_011735.3:g.281272G>T
  • NM_000503.6:c.865G>TMANE SELECT
  • NM_001288574.2:c.847G>T
  • NM_001288575.2:c.499G>T
  • NM_001370333.1:c.952G>T
  • NM_001370334.1:c.865G>T
  • NM_001370335.1:c.865G>T
  • NM_001370336.1:c.934G>T
  • NM_172058.4:c.865G>T
  • NM_172059.5:c.937G>T
  • NP_000494.2:p.Asp289Tyr
  • NP_001275503.1:p.Asp283Tyr
  • NP_001275504.1:p.Asp167Tyr
  • NP_001357262.1:p.Asp318Tyr
  • NP_001357263.1:p.Asp289Tyr
  • NP_001357264.1:p.Asp289Tyr
  • NP_001357265.1:p.Asp312Tyr
  • NP_742055.1:p.Asp289Tyr
  • NP_742056.2:p.Asp313Tyr
  • NC_000008.10:g.72184094C>A
  • NM_000503.4:c.865G>T
  • NM_000503.5:c.865G>T
  • NM_172058.2:c.865G>T
  • p.Asp289Tyr
Protein change:
D167Y
Links:
dbSNP: rs201504674
NCBI 1000 Genomes Browser:
rs201504674
Molecular consequence:
  • NM_000503.6:c.865G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288574.2:c.847G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288575.2:c.499G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370333.1:c.952G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370334.1:c.865G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370335.1:c.865G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370336.1:c.934G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172058.4:c.865G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172059.5:c.937G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hearing impairment
Synonyms:
Congenital hearing loss; Hearing defect; Hypoacusis
Identifiers:
MONDO: MONDO:0005365; MedGen: C1384666; Human Phenotype Ontology: HP:0000365

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001572100Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Centercriteria provided, single submitter
Uncertain significance
(Apr 12, 2021)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; et al.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PubMed [citation]
PMID:
30311386
PMCID:
PMC6188673

Details of each submission

From Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center, SCV001572100.2

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

Description

PP3_Supporting, BS2_Strong

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

Last Updated: Aug 27, 2021

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