NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys) AND BEST1-related disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 22, 2024
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV004732711.1

Allele description [Variation Report for NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys)]

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

Gene:

BEST1:bestrophin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q12.3

Genomic location:

Preferred name:

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

HGVS:

NC_000011.10:g.61958282A>G
NG_009033.1:g.13399A>G
NM_001139443.2:c.671A>G
NM_001300786.2:c.671A>G
NM_001300787.2:c.671A>G
NM_001363591.2:c.533A>G
NM_001363592.1:c.851A>G
NM_001363593.2:c.-325A>G
NM_004183.4:c.851A>GMANE SELECT
NP_001132915.1:p.Tyr224Cys
NP_001287715.1:p.Tyr224Cys
NP_001287716.1:p.Tyr224Cys
NP_001350520.1:p.Tyr178Cys
NP_001350521.1:p.Tyr284Cys
NP_004174.1:p.Tyr284Cys
NC_000011.9:g.61725754A>G
NM_001139443.1:c.671A>G
NM_004183.3:c.851A>G
NR_134580.2:n.964A>G

Protein change:

Y178C

Links:

dbSNP: rs727503824

NCBI 1000 Genomes Browser:

rs727503824

Molecular consequence:

NM_001363593.2:c.-325A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001139443.2:c.671A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001300786.2:c.671A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001300787.2:c.671A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001363591.2:c.533A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001363592.1:c.851A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004183.4:c.851A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_134580.2:n.964A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: BEST1-related disorder
Synonyms:: BEST1-Related Disorders; BEST1-related condition
Identifiers:: MedGen: CN239200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005361479	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely pathogenic (Aug 22, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005361479

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely pathogenic
(Aug 22, 2024)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005361479.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The BEST1 c.851A>G variant is predicted to result in the amino acid substitution p.Tyr284Cys. This variant has been reported in the heterozygous state in individuals with BEST1-related disease (Table S4, Liu et al. 2020. PubMed ID: 33090715; Garza-Garza et al. 2020. PubMed ID: 32207364; Hoyek et al. 2022. PubMed ID: 35754583; Supplementary Table 1 Wang et al. 2022. PubMed ID: 35973442; zygosity unknown in Cohn et al. 2010. PubMed ID: 21109774). In two families, this variant was inherited from affected or mildly affected parents, suggesting variable expressivity and/or incomplete penetrance, and also identified in an affected sibling (Garza-Garza et al. 2020. PubMed ID: 32207364; Hoyek et al. 2022. PubMed ID: 35754583). This variant is interpreted as likely pathogenic or pathogenic by multiple submitters in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/166746/). This variant has not been reported in a large population database, indicating it is rare. This variant is interpreted as likely pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 30, 2024

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