NM_004183.4(BEST1):c.172_173dup (p.Gln58fs) AND Vitelliform macular dystrophy 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 18, 2010
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:: RCV000149459.1

Allele description [Variation Report for NM_004183.4(BEST1):c.172_173dup (p.Gln58fs)]

NM_004183.4(BEST1):c.172_173dup (p.Gln58fs)

Gene:

BEST1:bestrophin 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

11q12.3

Genomic location:

Preferred name:

NM_004183.4(BEST1):c.172_173dup (p.Gln58fs)

HGVS:

NC_000011.10:g.61955126_61955127dup
NG_009033.1:g.10243_10244dup
NM_001139443.2:c.-9_-8dup
NM_001300786.2:c.-9_-8dup
NM_001300787.2:c.-9_-8dup
NM_001363592.1:c.172_173dup
NM_004183.4:c.172_173dupMANE SELECT
NP_001350521.1:p.Gln58fs
NP_004174.1:p.Gln58fs
NC_000011.9:g.61722596_61722597insAC
NC_000011.9:g.61722598_61722599dup
NM_004183.3:c.172_173dupCA
NR_134580.2:n.285_286dup

Protein change:

Q58fs

Links:

dbSNP: rs672601356

NCBI 1000 Genomes Browser:

rs672601356

Molecular consequence:

NM_001139443.2:c.-9_-8dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001300786.2:c.-9_-8dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001300787.2:c.-9_-8dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001363592.1:c.172_173dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004183.4:c.172_173dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_134580.2:n.285_286dup - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000196103	Center for Medical Genetics Ghent, University of Ghent	no assertion criteria provided	Pathogenic (Feb 18, 2010)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000196103

Center for Medical Genetics Ghent, University of Ghent

no assertion criteria provided

Pathogenic
(Feb 18, 2010)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Center for Medical Genetics Ghent, University of Ghent, SCV000196103.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 20, 2024

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