BEST1 Chromosome 11
Bestrophin 1
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What This Gene Does
This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008]
Gene Info
Gene Group
Bestrophins
Locus Type
gene with protein product
Location
11q12.3
Ensembl
ENSG00000167995
Associated Conditions (27)
Retinitis pigmentosa
BEST1-related disorder
Retinal dystrophy
Vitelliform macular dystrophy 2
Autosomal dominant vitreoretinochoroidopathy
Autosomal recessive bestrophinopathy
BEST1-related dominant retinopathy
Familial cancer of breast
Uterine carcinosarcoma
Thyroid cancer
nonmedullary
1
Malignant tumor of esophagus
Lung cancer
Retinitis pigmentosa 50
Inborn genetic diseases
Microcornea
rod-cone dystrophy
cataract
and posterior staphyloma 2
+7 more conditions
Key Variants
RS1064796849
Conflicting classifications of pathogenicity
Health Risk
RS112199774
Conflicting classifications of pathogenicity
Retinitis pigmentosa, BEST1-related disorder, Retinitis pigmentosa
Health Risk
RS1190983296
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS1249897117
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS138932379
Conflicting classifications of pathogenicity
Health Risk
RS141071579
Conflicting classifications of pathogenicity
Retinitis pigmentosa, BEST1-related disorder, Retinitis pigmentosa
Health Risk
RS142482048
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS144231113
Conflicting classifications of pathogenicity
Vitelliform macular dystrophy 2, Retinitis pigmentosa, Autosomal dominant vitreoretinochoroidopathy
Health Risk
RS145209035
Conflicting classifications of pathogenicity
BEST1-related disorder, BEST1-related disorder
Health Risk
RS147192139
Conflicting classifications of pathogenicity
Retinitis pigmentosa, BEST1-related disorder, Retinitis pigmentosa
Health Risk
RS147409760
Conflicting classifications of pathogenicity
Autosomal dominant vitreoretinochoroidopathy, Retinitis pigmentosa, Vitelliform macular dystrophy 2
Health Risk
RS150247275
Conflicting classifications of pathogenicity
Retinal dystrophy, BEST1-related disorder, Retinal dystrophy
Health Risk
All Variants (274)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1420999724 | Health Risk | Likely pathogenic | — |
| RS1431752515 | Health Risk | Likely pathogenic | Autosomal recessive bestrophinopathy, Retinal dystrophy, Autosomal dominant vitreoretinochoroidopathy |
| RS1484152128 | Health Risk | Likely pathogenic | — |
| RS1555096248 | Health Risk | Likely pathogenic | Retinal dystrophy, Autosomal recessive bestrophinopathy, Retinal dystrophy |
| RS1555099048 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinal dystrophy, Vitelliform macular dystrophy 2 |
| RS1565382549 | Health Risk | Likely pathogenic | Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2 |
| RS1565392261 | Health Risk | Likely pathogenic | Autosomal recessive bestrophinopathy, Autosomal recessive bestrophinopathy |
| RS1591280478 | Health Risk | Likely pathogenic | Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2 |
| RS1940696088 | Health Risk | Likely pathogenic | — |
| RS1941153466 | Health Risk | Likely pathogenic | — |
| RS1941247515 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1941501578 | Health Risk | Likely pathogenic | — |
| RS1941618522 | Health Risk | Likely pathogenic | — |
| RS1941816094 | Health Risk | Likely pathogenic | Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2 |
| RS1941817289 | Health Risk | Likely pathogenic | — |
| RS1942208203 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2134409637 | Health Risk | Likely pathogenic | — |
| RS2134429776 | Health Risk | Likely pathogenic | — |
| RS2134429825 | Health Risk | Likely pathogenic | — |
| RS2134430043 | Health Risk | Likely pathogenic | — |
| RS2134430116 | Health Risk | Likely pathogenic | Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2 |
| RS2134440476 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2134453407 | Health Risk | Likely pathogenic | — |
| RS2134453733 | Health Risk | Likely pathogenic | — |
| RS2134470006 | Health Risk | Likely pathogenic | — |
| RS2541332053 | Health Risk | Likely pathogenic | — |
| RS2541332164 | Health Risk | Likely pathogenic | — |
| RS2541332491 | Health Risk | Likely pathogenic | — |
| RS2541362236 | Health Risk | Likely pathogenic | Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2 |
| RS2541363547 | Health Risk | Likely pathogenic | — |
| RS2541363953 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2541384120 | Health Risk | Likely pathogenic | — |
| RS2541400072 | Health Risk | Likely pathogenic | Autosomal recessive bestrophinopathy, Autosomal recessive bestrophinopathy |
| RS2541412514 | Health Risk | Likely pathogenic | — |
| RS267606676 | Health Risk | Likely pathogenic | Retinitis pigmentosa 50, Retinal dystrophy, Retinitis pigmentosa |
| RS281865205 | Health Risk | Likely pathogenic | Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2 |
| RS281865208 | Health Risk | Likely pathogenic | — |
| RS281865209 | Health Risk | Likely pathogenic | Retinal dystrophy, Autosomal recessive bestrophinopathy, Retinal dystrophy |
| RS281865211 | Health Risk | Likely pathogenic | — |
| RS281865225 | Health Risk | Likely pathogenic | Autosomal recessive bestrophinopathy, Autosomal recessive bestrophinopathy |
| RS281865228 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS281865234 | Health Risk | Likely pathogenic | — |
| RS281865239 | Health Risk | Likely pathogenic | Macular dystrophy, Vitelliform macular dystrophy 2, Retinal dystrophy |
| RS281865242 | Health Risk | Likely pathogenic | — |
| RS281865244 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS281865251 | Health Risk | Likely pathogenic | Retinal disorder, Retinal disorder |
| RS281865259 | Health Risk | Likely pathogenic | Retinal dystrophy, Vitelliform macular dystrophy 2, Retinal dystrophy |
| RS281865260 | Health Risk | Likely pathogenic | — |
| RS281865268 | Health Risk | Likely pathogenic | — |
| RS281865529 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |