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NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser) AND Branchiootic syndrome 1

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 28, 2017
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:
RCV000367199.5

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)

Name:
Branchiootic syndrome 1 (BOS1)
Synonyms:
BO syndrome 1; Branchiootic dysplasia
Identifiers:
MONDO: MONDO:0011258; MedGen: C1865143; OMIM: 602588

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000474832Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Apr 28, 2017) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome.

Buller C, Xu X, Marquis V, Schwanke R, Xu PX.

Hum Mol Genet. 2001 Nov 15;10(24):2775-81.

PubMed [citation]
PMID:
11734542

EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis.

Li Y, Manaligod JM, Weeks DL.

Biol Cell. 2010 Feb 17;102(5):277-92. doi: 10.1042/BC20090098.

PubMed [citation]
PMID:
19951260
PMCID:
PMC2825735
See all PubMed Citations (4)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000474832.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Oct 8, 2024