NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr) AND Retinal dystrophy

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 30, 2018
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:: RCV000225533.3

Allele description [Variation Report for NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr)]

NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr)

Gene:

PDE6A:phosphodiesterase 6A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q32

Genomic location:

Preferred name:

NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr)

HGVS:

NC_000005.10:g.149944307C>A
NG_009102.1:g.5487G>T
NM_000440.3:c.367G>TMANE SELECT
NP_000431.2:p.Asp123Tyr
NC_000005.9:g.149323870C>A
NM_000440.2:c.367G>T

Protein change:

D123Y

Links:

dbSNP: rs147010346

NCBI 1000 Genomes Browser:

rs147010346

Molecular consequence:

NM_000440.3:c.367G>T - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000282556	Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	no assertion criteria provided	Uncertain significance	germline	clinical testing
SCV001239459	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Uncertain significance (Apr 30, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000282556

Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

no assertion criteria provided

Uncertain significance

germline

clinical testing

SCV001239459

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Uncertain significance
(Apr 30, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals, SCV000282556.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Blueprint Genetics, SCV001239459.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 30, 2024

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