NM_001379270.1(CNGA1):c.1743_1746del (p.Thr582fs) AND Retinal dystrophy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 19, 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:: RCV001073711.2

Allele description [Variation Report for NM_001379270.1(CNGA1):c.1743_1746del (p.Thr582fs)]

NM_001379270.1(CNGA1):c.1743_1746del (p.Thr582fs)

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.1743_1746del (p.Thr582fs)

HGVS:

NC_000004.12:g.47936738_47936741del
NG_009193.1:g.81206_81209del
NM_000087.5:c.1743_1746del
NM_001142564.2:c.1743_1746del
NM_001379270.1:c.1743_1746delMANE SELECT
NP_000078.3:p.Thr582fs
NP_001136036.2:p.Thr582fs
NP_001366199.1:p.Thr582fs
NC_000004.11:g.47938753_47938756del
NC_000004.11:g.47938755_47938758del
NM_000087.3:c.1755_1758del
NM_000087.3:c.1755_1758delAACT
NM_001142564.1:c.1962_1965del

Protein change:

T582fs

Links:

dbSNP: rs768694789

NCBI 1000 Genomes Browser:

rs768694789

Molecular consequence:

NM_000087.5:c.1743_1746del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001142564.2:c.1743_1746del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001379270.1:c.1743_1746del - 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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gi|28974938|gb|AY192718.1|

Nucleotide
BioAssays, RNAi Target, Active for Gene (Select 23043) (1)
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001239270	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Likely pathogenic (Jul 19, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001239270

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Likely pathogenic
(Jul 19, 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, SCV001239270.1

#	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: Sep 29, 2024

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