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NM_004183.4(BEST1):c.122T>C (p.Leu41Pro) AND Autosomal recessive bestrophinopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2008
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:
RCV000002866.3

Allele description [Variation Report for NM_004183.4(BEST1):c.122T>C (p.Leu41Pro)]

NM_004183.4(BEST1):c.122T>C (p.Leu41Pro)

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.122T>C (p.Leu41Pro)
HGVS:
  • NC_000011.10:g.61951928T>C
  • NG_009033.1:g.7045T>C
  • NM_001139443.2:c.-29+1501T>C
  • NM_001300786.2:c.-29+1501T>C
  • NM_001300787.2:c.-29+1501T>C
  • NM_001363592.1:c.122T>C
  • NM_004183.4:c.122T>CMANE SELECT
  • NP_001350521.1:p.Leu41Pro
  • NP_004174.1:p.Leu41Pro
  • NC_000011.9:g.61719400T>C
  • NM_004183.3:c.122T>C
  • NR_134580.2:n.235T>C
  • O76090:p.Leu41Pro
Protein change:
L41P; LEU41PRO
Links:
UniProtKB: O76090#VAR_017371; OMIM: 607854.0018; dbSNP: rs121918288
NCBI 1000 Genomes Browser:
rs121918288
Molecular consequence:
  • NM_001139443.2:c.-29+1501T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001300786.2:c.-29+1501T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001300787.2:c.-29+1501T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363592.1:c.122T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004183.4:c.122T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134580.2:n.235T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Autosomal recessive bestrophinopathy
Identifiers:
MONDO: MONDO:0012733; MedGen: C3888198; Orphanet: 139455; OMIM: 611809

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000023024OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2008) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearon IM, De Baere E, Brown PD, Robson AG, Wright GA, Kestelyn P, Holder GE, Webster AR, Manson FD, Black GC.

Am J Hum Genet. 2008 Jan;82(1):19-31. doi: 10.1016/j.ajhg.2007.08.004.

PubMed [citation]
PMID:
18179881
PMCID:
PMC2253971

Details of each submission

From OMIM, SCV000023024.2

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

Description

In a patient reported by Burgess et al. (2008) with autosomal recessive bestrophinopathy (ARB; 611809), a leu41-to-pro (L41P) mutation in the BEST1 gene occurred in compound heterozygosity with R141H (607854.0013). Visual deterioration began at age 4 years.

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

Last Updated: Feb 20, 2024