NM_004183.4(BEST1):c.28G>A (p.Ala10Thr) AND Retinal dystrophy

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Oct 2, 2018
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001073998.3

Allele description [Variation Report for NM_004183.4(BEST1):c.28G>A (p.Ala10Thr)]

NM_004183.4(BEST1):c.28G>A (p.Ala10Thr)

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.28G>A (p.Ala10Thr)

HGVS:

NC_000011.10:g.61951834G>A
NG_009033.1:g.6951G>A
NM_001139443.2:c.-29+1407G>A
NM_001300786.2:c.-29+1407G>A
NM_001300787.2:c.-29+1407G>A
NM_001363592.1:c.28G>A
NM_004183.4:c.28G>AMANE SELECT
NP_001350521.1:p.Ala10Thr
NP_004174.1:p.Ala10Thr
NC_000011.9:g.61719306G>A
NM_004183.3:c.28G>A
NR_134580.2:n.141G>A
O76090:p.Ala10Thr

Protein change:

A10T

Links:

UniProtKB: O76090#VAR_000833; dbSNP: rs281865206

NCBI 1000 Genomes Browser:

rs281865206

Molecular consequence:

NM_001139443.2:c.-29+1407G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001300786.2:c.-29+1407G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001300787.2:c.-29+1407G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001363592.1:c.28G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004183.4:c.28G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_134580.2:n.141G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Retinal dystrophy
Synonyms:: Inherited retinal dystrophy
Identifiers:: MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001239564	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Pathogenic (Oct 2, 2018)	germline	clinical testing	Citation Link,
SCV005072282	Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2018)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 9700209, 31836750, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001239564

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Pathogenic
(Oct 2, 2018)

germline

clinical testing

Citation Link,

SCV005072282

Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2018)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).

Marquardt A, Stöhr H, Passmore LA, Krämer F, Rivera A, Weber BH.

Hum Mol Genet. 1998 Sep;7(9):1517-25.

PubMed [citation]

PMID:: 9700209

Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations.

Ji C, Li Y, Kittredge A, Hopiavuori A, Ward N, Yao P, Fukuda Y, Zhang Y, Tsang SH, Yang T.

Sci Rep. 2019 Dec 13;9(1):19026. doi: 10.1038/s41598-019-54892-7.

PubMed [citation]

PMID:: 31836750
PMCID:: PMC6910965

See all PubMed Citations (3)

Details of each submission

From Blueprint Genetics, SCV001239564.1

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

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

From Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg, SCV005072282.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

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

Last Updated: Dec 28, 2024

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