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NM_004100.5(EYA4):c.1844A>G (p.Asn615Ser) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 8, 2023
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:
RCV004516460.1

Allele description [Variation Report for NM_004100.5(EYA4):c.1844A>G (p.Asn615Ser)]

NM_004100.5(EYA4):c.1844A>G (p.Asn615Ser)

Genes:
EYA4:EYA transcriptional coactivator and phosphatase 4 [Gene - OMIM - HGNC]
TARID:TCF21 antisense RNA inducing promoter demethylation [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q23.2
Genomic location:
Preferred name:
NM_004100.5(EYA4):c.1844A>G (p.Asn615Ser)
HGVS:
  • NC_000006.12:g.133528729A>G
  • NG_011596.2:g.292373A>G
  • NM_001301012.2:c.1682A>G
  • NM_001301013.2:c.1862A>G
  • NM_001370458.1:c.1775A>G
  • NM_001370459.1:c.1700A>G
  • NM_004100.5:c.1844A>GMANE SELECT
  • NM_172103.4:c.1775A>G
  • NM_172105.4:c.1844A>G
  • NP_001287941.1:p.Asn561Ser
  • NP_001287942.1:p.Asn621Ser
  • NP_001357387.1:p.Asn592Ser
  • NP_001357388.1:p.Asn567Ser
  • NP_004091.3:p.Asn615Ser
  • NP_742101.2:p.Asn592Ser
  • NP_742103.1:p.Asn615Ser
  • LRG_418t1:c.1844A>G
  • LRG_418:g.292373A>G
  • LRG_418p1:p.Asn615Ser
  • NC_000006.11:g.133849867A>G
  • NM_004100.4:c.1844A>G
Protein change:
N561S
Molecular consequence:
  • NM_001301012.2:c.1682A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301013.2:c.1862A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370458.1:c.1775A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370459.1:c.1700A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004100.5:c.1844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172103.4:c.1775A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172105.4:c.1844A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005021783Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 8, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005021783.1

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

Description

The p.N615S variant (also known as c.1844A>G), located in coding exon 19 of the EYA4 gene, results from an A to G substitution at nucleotide position 1844. The asparagine at codon 615 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024