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NM_001142800.1(EYS):c.6528C>A (p.Tyr2176Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Oct 23, 2018)
Last evaluated:
Jul 31, 2016
Accession:
VCV000208578.1
Variation ID:
208578
Description:
single nucleotide variant
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NM_001142800.1(EYS):c.6528C>A (p.Tyr2176Ter)

Allele ID
205152
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6q12
Genomic location
6: 64081899 (GRCh38) GRCh38 UCSC
6: 64791792 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.64791792G>T
NC_000006.12:g.64081899G>T
NM_001142800.1:c.6528C>A NP_001136272.1:p.Tyr2176Ter nonsense
NG_023443.2:g.1630327C>A
Protein change
Y2176*
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs797045089
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Aug 1, 2014 RCV000190583.1
Likely pathogenic 1 criteria provided, single submitter Jul 31, 2016 RCV000415866.1
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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
350 368

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 01, 2014)
criteria provided, single submitter
Method: clinical testing
Retinitis pigmentosa 25
(Autosomal recessive inheritance)
Allele origin: germline
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
Study: CSER-MedSeq
Accession: SCV000245607.1
Submitted: (Aug 18, 2015)
Evidence details
Comment:
The Tyr2176X variant in EYS has not been previously reported in individuals with retinitis pigmentosa or in large population studies. This nonsense variant leads to ... (more)
Likely pathogenic
(Jul 31, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000493662.6
Submitted: (Oct 23, 2018)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jun 17, 2019