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NM_000440.3(PDE6A):c.1689C>A (p.His563Gln) AND Retinal dystrophy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 13, 2019
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:
RCV001074263.2

Allele description [Variation Report for NM_000440.3(PDE6A):c.1689C>A (p.His563Gln)]

NM_000440.3(PDE6A):c.1689C>A (p.His563Gln)

Gene:
PDE6A:phosphodiesterase 6A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q32
Genomic location:
Preferred name:
NM_000440.3(PDE6A):c.1689C>A (p.His563Gln)
HGVS:
  • NC_000005.10:g.149895222G>T
  • NG_009102.1:g.54572C>A
  • NM_000440.3:c.1689C>AMANE SELECT
  • NP_000431.2:p.His563Gln
  • NC_000005.9:g.149274785G>T
  • NM_000440.2:c.1689C>A
Protein change:
H563Q
Links:
dbSNP: rs776918069
NCBI 1000 Genomes Browser:
rs776918069
Molecular consequence:
  • NM_000440.3:c.1689C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinal dystrophy
Synonyms:
Inherited retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001239836Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)		Uncertain significance
(May 13, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001239836.1

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

Last Updated: Oct 13, 2024