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NM_001142800.2(EYS):c.6229G>A (p.Val2077Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 19, 2018)
Last evaluated:
Jun 14, 2018
Accession:
VCV000498880.1
Variation ID:
498880
Description:
single nucleotide variant
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NM_001142800.2(EYS):c.6229G>A (p.Val2077Ile)

Allele ID
490304
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q12
Genomic location
6: 64230787 (GRCh38) GRCh38 UCSC
6: 64940680 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.64940680C>T
NC_000006.12:g.64230787C>T
NM_001292009.1:c.6229G>A NP_001278938.1:p.Val2077Ile missense
... more HGVS
Protein change
V2077I
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
ClinGen: CA364391567
dbSNP: rs1214579712
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2018 RCV000595158.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EYS - - GRCh38
GRCh37
498 566

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000704110.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...

Citations for this variant

Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=EYS - - - -

Record last updated Dec 15, 2019