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NM_004183.4(BEST1):c.874G>C (p.Glu292Gln)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 21, 2018)
Last evaluated:
May 8, 2018
Accession:
VCV000544678.1
Variation ID:
544678
Description:
single nucleotide variant
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NM_004183.4(BEST1):c.874G>C (p.Glu292Gln)

Allele ID
535223
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q12.3
Genomic location
11: 61959504 (GRCh38) GRCh38 UCSC
11: 61726976 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.61959504G>C
NC_000011.9:g.61726976G>C
NM_004183.4:c.874G>C MANE Select NP_004174.1:p.Glu292Gln missense
... more HGVS
Protein change
E292Q, E232Q, E186Q, Q359H
Other names
-
Canonical SPDI
NC_000011.10:61959503:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA380843621
dbSNP: rs886039311
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 8, 2018 RCV000655874.1
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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
Likely pathogenic
(May 08, 2018)
criteria provided, single submitter
Method: clinical testing
Vitelliform macular dystrophy type 2
(Autosomal dominant inheritance)
Allele origin: paternal
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP
Accession: SCV000747140.1
Submitted: (May 21, 2018)
Evidence details
Comment:
The p.(Glu292Gln) variant in BEST1 has been identified in a proband and his father both affected by Best vitelliform macular dystrophy (BVMD). Application of ACMG … (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
Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology. Frecer V Journal of translational medicine 2019 PMID: 31570112

Text-mined citations for rs886039311...

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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 May 11, 2020