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NM_004183.4(BEST1):c.1067G>A (p.Arg356Gln) AND Cone-rod dystrophy 6

Germline classification:
Uncertain significance (1 submission)
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:
RCV000850038.1

Allele description [Variation Report for NM_004183.4(BEST1):c.1067G>A (p.Arg356Gln)]

NM_004183.4(BEST1):c.1067G>A (p.Arg356Gln)

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.1067G>A (p.Arg356Gln)
HGVS:
  • NC_000011.10:g.61960010G>A
  • NG_009033.1:g.15127G>A
  • NM_001139443.2:c.887G>A
  • NM_001300786.2:c.806G>A
  • NM_001300787.2:c.887G>A
  • NM_001363591.2:c.749G>A
  • NM_001363592.1:c.1270G>A
  • NM_001363593.2:c.95G>A
  • NM_004183.4:c.1067G>AMANE SELECT
  • NP_001132915.1:p.Arg296Gln
  • NP_001287715.1:p.Arg269Gln
  • NP_001287716.1:p.Arg296Gln
  • NP_001350520.1:p.Arg250Gln
  • NP_001350521.1:p.Glu424Lys
  • NP_001350522.1:p.Arg32Gln
  • NP_004174.1:p.Arg356Gln
  • NC_000011.9:g.61727482G>A
  • NM_001139443.1:c.887G>A
  • NM_004183.3:c.1067G>A
  • NR_134580.2:n.1383G>A
  • g.61727482G>A
Protein change:
E424K
Links:
dbSNP: rs751707411
NCBI 1000 Genomes Browser:
rs751707411
Molecular consequence:
  • NM_001139443.2:c.887G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001300786.2:c.806G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001300787.2:c.887G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363591.2:c.749G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363592.1:c.1270G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363593.2:c.95G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004183.4:c.1067G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134580.2:n.1383G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Cone-rod dystrophy 6 (CORD6)
Synonyms:
Retinal cone dystrophy 2; Cone dystrophy progressive
Identifiers:
MONDO: MONDO:0011143; MedGen: C1866293; Orphanet: 1872; OMIM: 601777

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000965598Noruzinia Laboratory, Tarbiat Modares University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significanceinheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Persianinheritedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Noruzinia Laboratory, Tarbiat Modares University, SCV000965598.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Persian1not providednot providedclinical testingnot provided

Description

This variant possibly associates with a pathogenic mutation in GUCY2D to develop Cone-rod dystrophy-6 disease. It is possible to hypothesize a double heterozygosity scenario to explain the condition. The c.887G>A variant is present in heterozygote state in healthy participants.

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

Last Updated: Feb 20, 2024