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NM_004183.4(BEST1):c.256G>A (p.Val86Met) AND Autosomal dominant vitreoretinochoroidopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2004
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:
RCV000002867.3

Allele description [Variation Report for NM_004183.4(BEST1):c.256G>A (p.Val86Met)]

NM_004183.4(BEST1):c.256G>A (p.Val86Met)

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.256G>A (p.Val86Met)
HGVS:
  • NC_000011.10:g.61955726G>A
  • NG_009033.1:g.10843G>A
  • NM_001139443.2:c.76G>A
  • NM_001300786.2:c.76G>A
  • NM_001300787.2:c.76G>A
  • NM_001363591.2:c.-63G>A
  • NM_001363592.1:c.256G>A
  • NM_001363593.2:c.-920G>A
  • NM_004183.4:c.256G>AMANE SELECT
  • NP_001132915.1:p.Val26Met
  • NP_001287715.1:p.Val26Met
  • NP_001287716.1:p.Val26Met
  • NP_001350521.1:p.Val86Met
  • NP_004174.1:p.Val86Met
  • NC_000011.9:g.61723198G>A
  • NM_004183.3:c.256G>A
  • NR_134580.2:n.369G>A
  • O76090:p.Val86Met
Protein change:
V26M; VAL86MET
Links:
UniProtKB: O76090#VAR_058274; OMIM: 607854.0019; dbSNP: rs121918289
NCBI 1000 Genomes Browser:
rs121918289
Molecular consequence:
  • NM_001363591.2:c.-63G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001363593.2:c.-920G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001139443.2:c.76G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001300786.2:c.76G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001300787.2:c.76G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363592.1:c.256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004183.4:c.256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134580.2:n.369G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Autosomal dominant vitreoretinochoroidopathy
Synonyms:
VITREORETINOCHOROIDOPATHY WITH MICROCORNEA, GLAUCOMA, AND CATARACT; Vitreoretinochoroidopathy dominant; VRCP autosomal dominant; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008662; MedGen: C3888099; Orphanet: 263347; Orphanet: 3086; OMIM: 193220

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000023025OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2004) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.

Lafaut BA, Loeys B, Leroy BP, Spileers W, De Laey JJ, Kestelyn P.

Graefes Arch Clin Exp Ophthalmol. 2001 Aug;239(8):575-82.

PubMed [citation]
PMID:
11585313

[The microphthalmia-retinitis pigmentosa-glaucoma syndrome].

HERMANN P.

Arch Ophtalmol Rev Gen Ophtalmol. 1958 Jan-Feb;18(1):17-24. French. No abstract available.

PubMed [citation]
PMID:
13534955
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000023025.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

In affected members of 3 families segregating autosomal dominant vitreoretinochoroidopathy, microcornea, glaucoma, and cataract (VRCP; 193220), including the 4-generation Belgian family previously reported by Lafaut et al. (2001), a 6-generation French family originally reported by Hermann (1958), and another Belgian family, Yardley et al. (2004) identified heterozygosity for a 256G-A transition in exon 4 of the BEST1 gene, resulting in a val86-to-met (V86M) substitution at a conserved residue. In vitro functional assays demonstrated that V86M disrupts splicing and causes exon skipping. The mutation was not found in 400 control chromosomes.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024