NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 26, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000595354.2

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]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000708067EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Apr 26, 2017)
germlineclinical testing

Citation Link,

SCV000920746Gharavi Laboratory,Columbia Universityno assertion criteria provided
Uncertain significance
(Sep 16, 2018)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedresearch
not providedgermlineunknown1not 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 EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000708067.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Gharavi Laboratory,Columbia University, SCV000920746.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 27, 2021

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