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NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 2, 2022
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:
RCV000657911.3

Allele description [Variation Report for NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser)]

NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser)

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.1276G>A (p.Gly426Ser)
Other names:
G393S
HGVS:
  • NC_000008.11:g.71216776C>T
  • NG_011735.3:g.336355G>A
  • NM_000503.6:c.1276G>AMANE SELECT
  • NM_001288574.2:c.1258G>A
  • NM_001288575.2:c.910G>A
  • NM_001370333.1:c.1363G>A
  • NM_001370334.1:c.1276G>A
  • NM_001370335.1:c.1276G>A
  • NM_001370336.1:c.1255G>A
  • NM_172058.4:c.1276G>A
  • NM_172059.5:c.1258G>A
  • NP_000494.2:p.Gly426Ser
  • NP_001275503.1:p.Gly420Ser
  • NP_001275504.1:p.Gly304Ser
  • NP_001357262.1:p.Gly455Ser
  • NP_001357263.1:p.Gly426Ser
  • NP_001357264.1:p.Gly426Ser
  • NP_001357265.1:p.Gly419Ser
  • NP_742055.1:p.Gly426Ser
  • NP_742056.2:p.Gly420Ser
  • NC_000008.10:g.72129011C>T
  • NG_011735.2:g.150457G>A
  • NM_000503.4:c.1276G>A
  • NM_000503.5:c.1276G>A
  • NM_172058.2:c.1276G>A
  • Q99502:p.Gly426Ser
Protein change:
G304S; GLY393SER
Links:
UniProtKB: Q99502#VAR_016865; OMIM: 601653.0010; dbSNP: rs121909199
NCBI 1000 Genomes Browser:
rs121909199
Molecular consequence:
  • NM_000503.6:c.1276G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288574.2:c.1258G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288575.2:c.910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370333.1:c.1363G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370334.1:c.1276G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370335.1:c.1276G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370336.1:c.1255G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172058.4:c.1276G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172059.5:c.1258G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
unknown functional consequence

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000779677GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Dec 2, 2022) 		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, SCV000779677.3

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

Description

Functional studies for this variant disagree on its effect; some indicate G426S or equivalent homologs reduce transcription level, affect optic development, and reduce interaction with Sox2 (Mutsuddi et al., 2005; Li et al., 2010; Zou et al., 2008), while others indicate G426S does not differ from wild-type (Ozaki et al., 2002; Musharraf et al., 2014); This variant is associated with the following publications: (PMID: 30221713, 29043394, 16797546, 11734542, 23435380, 10655545, 22340499, 24752894, 18678597, 19951260, 11950062, 24489909, 15802522, 35114279, 34868248)

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

Last Updated: Feb 14, 2024