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NM_004183.4(BEST1):c.974T>C (p.Met325Thr) AND Vitelliform macular dystrophy 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 8, 2021
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:
RCV001376460.1

Allele description [Variation Report for NM_004183.4(BEST1):c.974T>C (p.Met325Thr)]

NM_004183.4(BEST1):c.974T>C (p.Met325Thr)

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.974T>C (p.Met325Thr)
HGVS:
  • NC_000011.10:g.61959917T>C
  • NG_009033.1:g.15034T>C
  • NM_001139443.2:c.794T>C
  • NM_001300786.2:c.713T>C
  • NM_001300787.2:c.794T>C
  • NM_001363591.2:c.656T>C
  • NM_001363592.1:c.1177T>C
  • NM_001363593.1:c.2T>C
  • NM_001363593.2:c.2T>C
  • NM_004183.4:c.974T>CMANE SELECT
  • NP_001132915.1:p.Met265Thr
  • NP_001287715.1:p.Met238Thr
  • NP_001287716.1:p.Met265Thr
  • NP_001350520.1:p.Met219Thr
  • NP_001350521.1:p.Cys393Arg
  • NP_001350522.1:p.Met1Thr
  • NP_004174.1:p.Met325Thr
  • NC_000011.9:g.61727389T>C
  • NM_004183.3:c.974T>C
  • NR_134580.2:n.1290T>C
Protein change:
C393R
Links:
dbSNP: rs368387447
NCBI 1000 Genomes Browser:
rs368387447
Molecular consequence:
  • NM_001363593.2:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001139443.2:c.794T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001300786.2:c.713T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001300787.2:c.794T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363591.2:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363592.1:c.1177T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363593.2:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004183.4:c.974T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134580.2:n.1290T>C - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001573608Ocular Genomics Institute, Massachusetts Eye and Ear
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 8, 2021) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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 Ocular Genomics Institute, Massachusetts Eye and Ear, SCV001573608.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

The BEST1 c.974T>C variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PP3. Based on this evidence we have classified this variant as Variant of Uncertain Significance.

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

Last Updated: Oct 13, 2024