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NM_004183.4(BEST1):c.16A>C (p.Thr6Pro) AND Vitelliform macular dystrophy 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2007
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:
RCV000002851.3

Allele description [Variation Report for NM_004183.4(BEST1):c.16A>C (p.Thr6Pro)]

NM_004183.4(BEST1):c.16A>C (p.Thr6Pro)

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.16A>C (p.Thr6Pro)
HGVS:
  • NC_000011.10:g.61951822A>C
  • NG_009033.1:g.6939A>C
  • NM_001139443.2:c.-29+1395A>C
  • NM_001300786.2:c.-29+1395A>C
  • NM_001300787.2:c.-29+1395A>C
  • NM_001363592.1:c.16A>C
  • NM_004183.4:c.16A>CMANE SELECT
  • NP_001350521.1:p.Thr6Pro
  • NP_004174.1:p.Thr6Pro
  • NC_000011.9:g.61719294A>C
  • NM_004183.3:c.16A>C
  • NR_134580.2:n.129A>C
  • O76090:p.Thr6Pro
Protein change:
T6P; THR6PRO
Links:
UniProtKB: O76090#VAR_000830; OMIM: 607854.0005; dbSNP: rs28940275
NCBI 1000 Genomes Browser:
rs28940275
Molecular consequence:
  • NM_001139443.2:c.-29+1395A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001300786.2:c.-29+1395A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001300787.2:c.-29+1395A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363592.1:c.16A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004183.4:c.16A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134580.2:n.129A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Vitelliform macular dystrophy 2
Synonyms:
VITELLIFORM MACULAR DYSTROPHY, EARLY-ONSET; VITELLIFORM MACULAR DYSTROPHY, JUVENILE-ONSET; Best disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007931; MedGen: C2745945; Orphanet: 1243; OMIM: 153700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000023009OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 2007) 		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

Identification of the gene responsible for Best macular dystrophy.

Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AA, McGarty-Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT, Wadelius C.

Nat Genet. 1998 Jul;19(3):241-7.

PubMed [citation]
PMID:
9662395

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.

Krämer F, White K, Pauleikhoff D, Gehrig A, Passmore L, Rivera A, Rudolph G, Kellner U, Andrassi M, Lorenz B, Rohrschneider K, Blankenagel A, Jurklies B, Schilling H, Schütt F, Holz FG, Weber BH.

Eur J Hum Genet. 2000 Apr;8(4):286-92.

PubMed [citation]
PMID:
10854112
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000023009.2

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

Description

In affected members from 2 unrelated Dutch families with Best macular dystrophy (VMD2; 153700), Petrukhin et al. (1998) identified heterozygosity for a 120A-C transversion in the VMD2 gene, resulting in a thr6-to-pro (T6P) substitution. Analysis of this residue among 14 C. elegans proteins had not shown this threonine to be conserved. However, the authors classified the 120A-C change as a disease mutation because thr6 is located next to the evolutionarily conserved tyrosine at amino acid position 5, and a Chou-Fasman algorithm predicted a dramatic change in the secondary structure as a result of the threonine to proline substitution.

In a German patient with adult-onset vitelliform macular dystrophy, Kramer et al. (2000) identified heterozygosity for the T6P mutation in exon 2 of the VMD2 gene. There was no family history of the disorder.

In 2 patients with Best dystrophy who exhibited multifocal lesions, Boon et al. (2007) identified heterozygosity for the T6P mutation in the VMD2 gene.

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

Last Updated: Aug 4, 2024