Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_004183.4(BEST1):c.26T>G (p.Val9Gly)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 14, 2017)
Last evaluated:
Sep 11, 2017
Accession:
VCV000438579.1
Variation ID:
438579
Description:
single nucleotide variant
Help

NM_004183.4(BEST1):c.26T>G (p.Val9Gly)

Allele ID
432200
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q12.3
Genomic location
11: 61951832 (GRCh38) GRCh38 UCSC
11: 61719304 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.61951832T>G
NC_000011.9:g.61719304T>G
NM_004183.4:c.26T>G MANE Select NP_004174.1:p.Val9Gly missense
... more HGVS
Protein change
V9G
Other names
-
Canonical SPDI
NC_000011.10:61951831:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs281865205
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Sep 11, 2017 RCV000664327.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 11, 2017)
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: SCV000599452.1
Submitted: (Sep 14, 2017)
Evidence details
Comment:
The variation c.26T>G, p.(Val9Gly) found in a patient affected by Best vitelliform macular dystrophy (BVMD) is located in a mutational hot spot, i.e. is a … (more)

Functional evidence

Help
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

Help
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 rs281865205...

Help
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