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NM_004183.3(BEST1):c.-121C>T AND Autosomal dominant vitreoretinochoroidopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000275933.14

Allele description [Variation Report for NM_004183.3(BEST1):c.-121C>T]

NM_004183.3(BEST1):c.-121C>T

Gene:
BEST1:bestrophin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q12.3
Genomic location:
Preferred name:
NM_004183.3(BEST1):c.-121C>T
HGVS:
  • NC_000011.10:g.61950343C>T
  • NG_009033.1:g.5460C>T
  • NM_001139443.1:c.-113C>T
  • NM_001300786.1:c.-113C>T
  • NM_001300787.1:c.-113C>T
  • NM_001363592.1:c.-121C>T
  • NM_004183.3:c.-121C>T
  • NC_000011.9:g.61717815C>T
  • NR_134580.1:n.460C>T
Links:
dbSNP: rs562849665
NCBI 1000 Genomes Browser:
rs562849665
Molecular consequence:
  • NM_001363592.1:c.-121C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000372700Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000372700.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024