NM_004183.4(BEST1):c.535A>G (p.Asn179Asp) AND Vitelliform macular dystrophy type 2

Clinical significance:Likely pathogenic (Last evaluated: Sep 11, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000664326.1

Allele description [Variation Report for NM_004183.4(BEST1):c.535A>G (p.Asn179Asp)]

NM_004183.4(BEST1):c.535A>G (p.Asn179Asp)

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.535A>G (p.Asn179Asp)
HGVS:
  • NC_000011.10:g.61956897A>G
  • NG_009033.1:g.12014A>G
  • NM_001139443.2:c.355A>G
  • NM_001300786.2:c.355A>G
  • NM_001300787.2:c.355A>G
  • NM_001363591.2:c.217A>G
  • NM_001363592.1:c.535A>G
  • NM_001363593.2:c.-641A>G
  • NM_004183.4:c.535A>GMANE SELECT
  • NP_001132915.1:p.Asn119Asp
  • NP_001287715.1:p.Asn119Asp
  • NP_001287716.1:p.Asn119Asp
  • NP_001350520.1:p.Asn73Asp
  • NP_001350521.1:p.Asn179Asp
  • NP_004174.1:p.Asn179Asp
  • NC_000011.9:g.61724369A>G
  • NM_004183.3:c.535A>G
  • NR_134580.2:n.648A>G
Protein change:
N119D
Links:
dbSNP: rs1555099968
NCBI 1000 Genomes Browser:
rs1555099968
Molecular consequence:
  • NM_001363593.2:c.-641A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001139443.2:c.355A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001300786.2:c.355A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001300787.2:c.355A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363591.2:c.217A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363592.1:c.535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004183.4:c.535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134580.2:n.648A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000599453MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUPcriteria provided, single submitter
Likely pathogenic
(Sep 11, 2017)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not 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 MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP, SCV000599453.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

Assessment via ACMG Guidelines: PM1 Located in a mutational hot spot and/or critical and well-established functional domain (e.g., active site of an enzyme) without benign variation PM2 Absent from controls (or at extremely low frequency if recessive) (table 6) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium PP2 Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease PP4 Patient’s phenotype or family history is highly specific for a disease with a single genetic etiology Likely pathogenic 2 Moderate (PM1-PM6) AND >=2 supporting (PP1-PP5)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 11, 2020

Support Center