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NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(2);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 14, 2020
Accession:
VCV000166746.6
Variation ID:
166746
Description:
single nucleotide variant
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NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys)

Allele ID
177398
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q12.3
Genomic location
11: 61958282 (GRCh38) GRCh38 UCSC
11: 61725754 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.61958282A>G
NC_000011.9:g.61725754A>G
NG_009033.1:g.13399A>G
... more HGVS
Protein change
Y284C, Y178C, Y224C
Other names
-
Canonical SPDI
NC_000011.10:61958281:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA233532
dbSNP: rs727503824
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 3 criteria provided, multiple submitters, no conflicts Aug 14, 2020 RCV000723944.4
Likely pathogenic 1 criteria provided, single submitter Jan 1, 2019 RCV001262506.1
Likely pathogenic 1 criteria provided, single submitter - RCV001270355.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BEST1 - - GRCh38
GRCh37
454 492

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 16, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000202249.7
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (1)
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jun 23, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000616654.1
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The Y284C variant in the BEST1 gene has been reported previously in an individual with Best macular dystrophy (Cohn et al., 2011). This variant has … (more)
Likely pathogenic
(Jan 01, 2019)
criteria provided, single submitter
Method: clinical testing
Vitelliform macular dystrophy type 2
Allele origin: unknown
Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001440413.1
Submitted: (Oct 12, 2020)
Evidence details
Likely pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Stargardt disease
Allele origin: unknown
Department of Genetics,Fundacion Jimenez Diaz University Hospital
Accession: SCV001450582.1
Submitted: (Dec 14, 2020)
Evidence details
Comment:
Variant not found in gnomAD. Same amino acid change previously reported pathogenic (ClinVar: VCV000813024.1, predicted deleterious by in-silico pathogenicity predictors. (ACMG: PS2 Strong; PM2 Moderate; … (more)
Uncertain significance
(Aug 14, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001206721.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces tyrosine with cysteine at codon 284 of the BEST1 protein (p.Tyr284Cys). The tyrosine residue is highly conserved and there is a … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations. Cohn AC Eye (London, England) 2011 PMID: 21109774
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BEST1 - - - -

Text-mined citations for rs727503824...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 09, 2021