NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys) AND Vitelliform macular dystrophy type 2

Clinical significance:Likely pathogenic (Last evaluated: Jan 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001262506.1

Allele description [Variation Report for NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys)]

NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys)

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.851A>G (p.Tyr284Cys)
HGVS:
  • NC_000011.10:g.61958282A>G
  • NG_009033.1:g.13399A>G
  • NM_001139443.2:c.671A>G
  • NM_001300786.2:c.671A>G
  • NM_001300787.2:c.671A>G
  • NM_001363591.2:c.533A>G
  • NM_001363592.1:c.851A>G
  • NM_001363593.2:c.-325A>G
  • NM_004183.4:c.851A>GMANE SELECT
  • NP_001132915.1:p.Tyr224Cys
  • NP_001287715.1:p.Tyr224Cys
  • NP_001287716.1:p.Tyr224Cys
  • NP_001350520.1:p.Tyr178Cys
  • NP_001350521.1:p.Tyr284Cys
  • NP_004174.1:p.Tyr284Cys
  • NP_004174.1:p.Tyr284Cys
  • NC_000011.9:g.61725754A>G
  • NM_001139443.1:c.671A>G
  • NM_004183.3:c.851A>G
  • NR_134580.2:n.964A>G
Protein change:
Y178C
Links:
dbSNP: rs727503824
NCBI 1000 Genomes Browser:
rs727503824
Molecular consequence:
  • NM_001363593.2:c.-325A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001139443.2:c.671A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001300786.2:c.671A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001300787.2:c.671A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363591.2:c.533A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363592.1:c.851A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004183.4:c.851A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134580.2:n.964A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Vitelliform macular dystrophy type 2 (VMD2)
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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001440413Institute of Human Genetics, University of Leipzig Medical Centercriteria provided, single submitter
Likely pathogenic
(Jan 1, 2019)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001440413.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 16, 2021

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