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NM_001379270.1(CNGA1):c.1327dup (p.Thr443fs) AND Retinal dystrophy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 12, 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:
RCV001073750.2

Allele description [Variation Report for NM_001379270.1(CNGA1):c.1327dup (p.Thr443fs)]

NM_001379270.1(CNGA1):c.1327dup (p.Thr443fs)

Genes:
CNGA1:cyclic nucleotide gated channel subunit alpha 1 [Gene - OMIM - HGNC]
LOC101927157:uncharacterized LOC101927157 [Gene]
Variant type:
Duplication
Cytogenetic location:
4p12
Genomic location:
Preferred name:
NM_001379270.1(CNGA1):c.1327dup (p.Thr443fs)
HGVS:
  • NC_000004.12:g.47937161dup
  • NG_009193.1:g.80790dup
  • NM_000087.5:c.1327dup
  • NM_001142564.2:c.1327dup
  • NM_001379270.1:c.1327dupMANE SELECT
  • NP_000078.3:p.Thr443fs
  • NP_001136036.2:p.Thr443fs
  • NP_001366199.1:p.Thr443fs
  • NC_000004.11:g.47939171_47939172insT
  • NC_000004.11:g.47939178dup
  • NM_000087.3:c.1339dup
  • NM_000087.3:c.1339dupA
Protein change:
T443fs
Links:
dbSNP: rs772867912
NCBI 1000 Genomes Browser:
rs772867912
Molecular consequence:
  • NM_000087.5:c.1327dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001142564.2:c.1327dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001379270.1:c.1327dup - 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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001239310Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)		Likely pathogenic
(Oct 12, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001239310.1

#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 8, 2024