NM_001379270.1(CNGA1):c.253del (p.Leu85fs) AND Retinal dystrophy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 13, 2017
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:: RCV001073700.9

Allele description [Variation Report for NM_001379270.1(CNGA1):c.253del (p.Leu85fs)]

NM_001379270.1(CNGA1):c.253del (p.Leu85fs)

Genes:

CNGA1:cyclic nucleotide gated channel subunit alpha 1 [Gene - OMIM - HGNC]
LOC101927157:uncharacterized LOC101927157 [Gene]

Variant type:

Deletion

Cytogenetic location:

4p12

Genomic location:

Preferred name:

NM_001379270.1(CNGA1):c.253del (p.Leu85fs)

HGVS:

NC_000004.12:g.47949867del
NG_009193.1:g.68078del
NM_000087.5:c.253del
NM_001142564.2:c.253del
NM_001375386.1:c.265delC
NM_001379270.1:c.253delMANE SELECT
NP_000078.3:p.Leu85fs
NP_001136036.2:p.Leu85fs
NP_001362315.1:p.Leu89Phefs
NP_001366199.1:p.Leu85fs
NC_000004.11:g.47951884del
NM_000087.3:c.265del
NM_000087.3:c.265delC
NM_001142564.1:c.472del
NM_001142564.1:c.472delG

Protein change:

L85fs

Links:

OMIM: 123825.0006; OMIM: 123825.0009; dbSNP: rs749012133

NCBI 1000 Genomes Browser:

rs749012133

Molecular consequence:

NM_000087.5:c.253del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001142564.2:c.253del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001375386.1:c.265delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001379270.1:c.253del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001239259	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Pathogenic (Apr 13, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001239259

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Pathogenic
(Apr 13, 2017)

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 Blueprint Genetics, SCV001239259.1

#	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 10, 2024

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