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NM_004100.5(EYA4):c.723A>G (p.Pro241=) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 19, 2015
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:
RCV000222597.4

Allele description [Variation Report for NM_004100.5(EYA4):c.723A>G (p.Pro241=)]

NM_004100.5(EYA4):c.723A>G (p.Pro241=)

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.723A>G (p.Pro241=)
HGVS:
  • NC_000006.12:g.133462763A>G
  • NG_011596.2:g.226407A>G
  • NM_001301012.2:c.561A>G
  • NM_001301013.2:c.723A>G
  • NM_001370458.1:c.654A>G
  • NM_001370459.1:c.561A>G
  • NM_004100.5:c.723A>GMANE SELECT
  • NM_172103.4:c.654A>G
  • NM_172105.4:c.723A>G
  • NP_001287941.1:p.Pro187=
  • NP_001287942.1:p.Pro241=
  • NP_001357387.1:p.Pro218=
  • NP_001357388.1:p.Pro187=
  • NP_004091.3:p.Pro241=
  • NP_742101.2:p.Pro218=
  • NP_742103.1:p.Pro241=
  • LRG_418t1:c.723A>G
  • LRG_418:g.226407A>G
  • LRG_418p1:p.Pro241=
  • NC_000006.11:g.133783901A>G
  • NM_004100.4:c.723A>G
  • p.Pro241Pro
Links:
dbSNP: rs556550485
NCBI 1000 Genomes Browser:
rs556550485
Molecular consequence:
  • NM_001301012.2:c.561A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001301013.2:c.723A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370458.1:c.654A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001370459.1:c.561A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004100.5:c.723A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_172103.4:c.654A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_172105.4:c.723A>G - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000271778Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Nov 19, 2015) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000271778.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Benign. The c.723A>G (p.Pro 241Pro) variant in EYA4 has not been previously reported in individuals with hea ring loss and was absent from large population studies. This variant is located in the last two bases of the exon, which is part of the 3? splice region. Comput ational tools do not predict altered splicing, and four species (rhesus, crab-ea ting macaque, baboon, green monkey) have guanine (G) at this nucleotide position . However, this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the c.723A>G variant is uncertai n, the computational and conservation data suggests it is more likely to be beni gn.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: May 1, 2024