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NM_000503.6(EYA1):c.1459T>C (p.Ser487Pro) AND Branchiootorenal syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 1997
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000008402.4

Allele description [Variation Report for NM_000503.6(EYA1):c.1459T>C (p.Ser487Pro)]

NM_000503.6(EYA1):c.1459T>C (p.Ser487Pro)

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.1459T>C (p.Ser487Pro)
Other names:
S454P
HGVS:
  • NC_000008.11:g.71215630A>G
  • NG_011735.3:g.337501T>C
  • NM_000503.6:c.1459T>CMANE SELECT
  • NM_001288574.2:c.1441T>C
  • NM_001288575.2:c.1093T>C
  • NM_001370333.1:c.1546T>C
  • NM_001370334.1:c.1459T>C
  • NM_001370335.1:c.1459T>C
  • NM_001370336.1:c.1438T>C
  • NM_172058.3:c.1459T>C
  • NM_172058.4:c.1459T>C
  • NM_172059.5:c.1441T>C
  • NP_000494.2:p.Ser487Pro
  • NP_001275503.1:p.Ser481Pro
  • NP_001275504.1:p.Ser365Pro
  • NP_001357262.1:p.Ser516Pro
  • NP_001357263.1:p.Ser487Pro
  • NP_001357264.1:p.Ser487Pro
  • NP_001357265.1:p.Ser480Pro
  • NP_742055.1:p.Ser487Pro
  • NP_742056.2:p.Ser481Pro
  • NC_000008.10:g.72127865A>G
  • NG_011735.2:g.151603T>C
  • Q99502:p.Ser487Pro
Protein change:
S365P; SER454PRO
Links:
UniProtKB: Q99502#VAR_005203; OMIM: 601653.0012; dbSNP: rs121909200
NCBI 1000 Genomes Browser:
rs121909200
Molecular consequence:
  • NM_000503.6:c.1459T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288574.2:c.1441T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288575.2:c.1093T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370333.1:c.1546T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370334.1:c.1459T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370335.1:c.1459T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370336.1:c.1438T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172058.4:c.1459T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172059.5:c.1441T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Branchiootorenal syndrome 1
Identifiers:
MONDO: MONDO:0007236; MedGen: C4551702; Orphanet: 107; OMIM: 113650

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028610OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 1997) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.

Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Levi-Acobas F, Cruaud C, Le Merrer M, Mathieu M, König R, Vigneron J, Weissenbach J, Petit C, Weil D.

Hum Mol Genet. 1997 Dec;6(13):2247-55.

PubMed [citation]
PMID:
9361030

Details of each submission

From OMIM, SCV000028610.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a family with BOR syndrome (BOR1; 113650), Abdelhak et al. (1997) identified a ser454-to-pro (S454P) mutation in exon 13 of the EYA1 gene.

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

Last Updated: Oct 13, 2024