NM_000503.6(EYA1):c.840C>A (p.Ile280=) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Aug 30, 2016
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000150676.11

Allele description [Variation Report for NM_000503.6(EYA1):c.840C>A (p.Ile280=)]

NM_000503.6(EYA1):c.840C>A (p.Ile280=)

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.840C>A (p.Ile280=)

HGVS:

NC_000008.11:g.71271884G>T
NG_011735.3:g.281247C>A
NM_000503.6:c.840C>AMANE SELECT
NM_001288574.2:c.822C>A
NM_001288575.2:c.474C>A
NM_001370333.1:c.927C>A
NM_001370334.1:c.840C>A
NM_001370335.1:c.840C>A
NM_001370336.1:c.909C>A
NM_172058.4:c.840C>A
NM_172059.5:c.912C>A
NP_000494.2:p.Ile280=
NP_001275503.1:p.Ile274=
NP_001275504.1:p.Ile158=
NP_001357262.1:p.Ile309=
NP_001357263.1:p.Ile280=
NP_001357264.1:p.Ile280=
NP_001357265.1:p.Ile303=
NP_742055.1:p.Ile280=
NP_742056.2:p.Ile304=
NC_000008.10:g.72184119G>T
NG_011735.2:g.95349C>A
NM_000503.4:c.840C>A
NM_000503.5:c.840C>A
NM_172058.2:c.840C>A
NM_172058.3:c.840C>A
p.Ile280Ile

Links:

dbSNP: rs55972891

NCBI 1000 Genomes Browser:

rs55972891

Molecular consequence:

NM_000503.6:c.840C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001288574.2:c.822C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001288575.2:c.474C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001370333.1:c.927C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001370334.1:c.840C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001370335.1:c.840C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001370336.1:c.909C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_172058.4:c.840C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_172059.5:c.912C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000198032	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (May 7, 2012)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000344372	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Aug 30, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000198032

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(May 7, 2012)

germline

clinical testing

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

SCV000344372

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Aug 30, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	13	13	not provided	not provided	not provided	clinical 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, SCV000198032.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	13	not provided	not provided	clinical testing	PubMed (1)

Description

"Ile280Ile in Exon 09 of EYA1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.5% (32/7020) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs55972891)."

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		13	not provided	13	not provided

From Eurofins Ntd Llc (ga), SCV000344372.4

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

Last Updated: May 12, 2024

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