NM_004183.4(BEST1):c.72G>A (p.Trp24Ter) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 4, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001381873.6

Allele description

NM_004183.4(BEST1):c.72G>A (p.Trp24Ter)

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.72G>A (p.Trp24Ter)

HGVS:

NC_000011.10:g.61951878G>A
NG_009033.1:g.6995G>A
NM_001139443.2:c.-29+1451G>A
NM_001300786.2:c.-29+1451G>A
NM_001300787.2:c.-29+1451G>A
NM_001363592.1:c.72G>A
NM_004183.4:c.72G>AMANE SELECT
NP_001350521.1:p.Trp24Ter
NP_004174.1:p.Trp24Ter
NC_000011.9:g.61719350G>A
NR_134580.2:n.185G>A

Protein change:

W24*

Links:

dbSNP: rs281865213

NCBI 1000 Genomes Browser:

rs281865213

Molecular consequence:

NM_001139443.2:c.-29+1451G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001300786.2:c.-29+1451G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001300787.2:c.-29+1451G>A - intron variant - [Sequence Ontology: SO:0001627]
NR_134580.2:n.185G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001363592.1:c.72G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_004183.4:c.72G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001580440	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 4, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25412400, 21825197, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001580440

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 4, 2023)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

Consugar MB, Navarro-Gomez D, Place EM, Bujakowska KM, Sousa ME, Fonseca-Kelly ZD, Taub DG, Janessian M, Wang DY, Au ED, Sims KB, Sweetser DA, Fulton AB, Liu Q, Wiggs JL, Gai X, Pierce EA.

Genet Med. 2015 Apr;17(4):253-261. doi: 10.1038/gim.2014.172. Epub 2014 Nov 20.

PubMed [citation]

PMID:: 25412400
PMCID:: PMC4572572

Childhood-onset autosomal recessive bestrophinopathy.

Borman AD, Davidson AE, O'Sullivan J, Thompson DA, Robson AG, De Baere E, Black GC, Webster AR, Holder GE, Leroy BP, Manson FD, Moore AT.

Arch Ophthalmol. 2011 Aug;129(8):1088-93. doi: 10.1001/archophthalmol.2011.197. No abstract available.

PubMed [citation]

PMID:: 21825197

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001580440.4

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

Description

This variant is present in population databases (no rsID available, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1069894). This premature translational stop signal has been observed in individual(s) with macular dystrophy (PMID: 25412400). This sequence change creates a premature translational stop signal (p.Trp24*) in the BEST1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BEST1 are known to be pathogenic (PMID: 21825197).

#	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: Sep 16, 2024

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