U.S. flag

An official website of the United States government

NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn) AND Cone dystrophy 4

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Apr 27, 2017
Review status:
criteria provided, conflicting classifications
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:
RCV000625372.8

Allele description [Variation Report for NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn)]

NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn)

Gene:
PDE6C:phosphodiesterase 6C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.33
Genomic location:
Preferred name:
NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn)
HGVS:
  • NC_000010.11:g.93640937G>T
  • NG_016752.1:g.33350G>T
  • NM_006204.4:c.1755G>TMANE SELECT
  • NP_006195.3:p.Lys585Asn
  • NC_000010.10:g.95400694G>T
  • NM_006204.3:c.1755G>T
Protein change:
K585N
Links:
dbSNP: rs45522236
NCBI 1000 Genomes Browser:
rs45522236
Molecular consequence:
  • NM_006204.4:c.1755G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cone dystrophy 4 (COD4)
Identifiers:
MONDO: MONDO:0013129; MedGen: C2751308; Orphanet: 49382; OMIM: 613093

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
SCV000745116Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus
criteria provided, single submitter

(ACGS Guidelines, 2013)
Likely benign
(Apr 29, 2015)
germlineclinical testing

Citation Link,

SCV001260010Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000745116.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Illumina Laboratory Services, Illumina, SCV001260010.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Sep 29, 2024