NM_000503.5(EYA1):c.-564_-563delAG AND Branchiootorenal Spectrum Disorders

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000292091.14

Allele description [Variation Report for NM_000503.5(EYA1):c.-564_-563delAG]

NM_000503.5(EYA1):c.-564_-563delAG

Gene:

EYA1:EYA transcriptional coactivator and phosphatase 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

8q13.3

Genomic location:

Preferred name:

NM_000503.5(EYA1):c.-564_-563delAG

HGVS:

NC_000008.11:g.71362155_71362156del
NG_011735.3:g.190976_190977del
NG_011735.4:g.190939_190940del
NM_000503.5:c.-564_-563delAG
NM_001288574.1:c.-564_-563delAG
NM_001288575.1:c.-848_-847delAG
NM_001370333.1:c.34-5644_34-5643del
NM_001370334.1:c.-54-5644_-54-5643del
NM_001370335.1:c.-54-5644_-54-5643del
NM_001370336.1:c.34-5644_34-5643del
NM_172059.5:c.34-5644_34-5643del
NC_000008.10:g.72274390_72274391del
NM_000503.4:c.-563_-562delGA

Links:

dbSNP: rs886063096

NCBI 1000 Genomes Browser:

rs886063096

Molecular consequence:

NM_001370333.1:c.34-5644_34-5643del - intron variant - [Sequence Ontology: SO:0001627]
NM_001370334.1:c.-54-5644_-54-5643del - intron variant - [Sequence Ontology: SO:0001627]
NM_001370335.1:c.-54-5644_-54-5643del - intron variant - [Sequence Ontology: SO:0001627]
NM_001370336.1:c.34-5644_34-5643del - intron variant - [Sequence Ontology: SO:0001627]
NM_172059.5:c.34-5644_34-5643del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Branchiootorenal Spectrum Disorders
Identifiers:: MedGen: CN043574

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000474908	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000474908

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000474908.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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