NM_004100.5(EYA4):c.749C>A (p.Thr250Asn) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 30, 2021
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:: RCV003224289.1

Allele description [Variation Report for NM_004100.5(EYA4):c.749C>A (p.Thr250Asn)]

NM_004100.5(EYA4):c.749C>A (p.Thr250Asn)

Gene:

EYA4:EYA transcriptional coactivator and phosphatase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q23.2

Genomic location:

Preferred name:

NM_004100.5(EYA4):c.749C>A (p.Thr250Asn)

HGVS:

NC_000006.12:g.133464803C>A
NG_011596.2:g.228447C>A
NM_001301012.2:c.587C>A
NM_001301013.2:c.749C>A
NM_001370458.1:c.680C>A
NM_001370459.1:c.587C>A
NM_004100.5:c.749C>AMANE SELECT
NM_172103.4:c.680C>A
NM_172105.4:c.749C>A
NP_001287941.1:p.Thr196Asn
NP_001287942.1:p.Thr250Asn
NP_001357387.1:p.Thr227Asn
NP_001357388.1:p.Thr196Asn
NP_004091.3:p.Thr250Asn
NP_742101.2:p.Thr227Asn
NP_742103.1:p.Thr250Asn
LRG_418t1:c.749C>A
LRG_418:g.228447C>A
LRG_418p1:p.Thr250Asn
NC_000006.11:g.133785941C>A
NM_004100.4:c.749C>A

Protein change:

T196N

Links:

dbSNP: rs143757415

NCBI 1000 Genomes Browser:

rs143757415

Molecular consequence:

NM_001301012.2:c.587C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001301013.2:c.749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370458.1:c.680C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001370459.1:c.587C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004100.5:c.749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_172103.4:c.680C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_172105.4:c.749C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Dilated cardiomyopathy 1J (CMD1J)
Synonyms:: CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL DOMINANT
Identifiers:: MONDO: MONDO:0011541; MedGen: C1854368; Orphanet: 217622; OMIM: 605362

Name:: Autosomal dominant nonsyndromic hearing loss 10
Synonyms:: Deafness, autosomal dominant 10
Identifiers:: MONDO: MONDO:0011031; MedGen: C1832476; Orphanet: 90635; OMIM: 601316

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003919927	Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 30, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003919927

Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 30, 2021)

germline

clinical testing

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

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

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 Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV003919927.1

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

Description

EYA4 NM_004100.4 exon 10 p.Thr250Asn (c.749C>A): This variant has not been reported in the literature and is present in 0.1% (27/24882) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/6-133785941-C-A). This variant is present in ClinVar (Variation ID:410661). Evolutionary conservation suggests that this variant may impact the protein, but computational predictive tools do not predict an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

#	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 24, 2024

ClinVar

Relating variation to medicine