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NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) AND Leber congenital amaurosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 3, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001835671.4

Allele description [Variation Report for NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)]

NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)

Gene:
CEP290:centrosomal protein 290 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
12q21.32
Genomic location:
Preferred name:
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)
HGVS:
  • NC_000012.12:g.88121136AT[1]
  • NG_008417.2:g.26078AT[1]
  • NM_025114.4:c.1219_1220delMANE SELECT
  • NP_079390.3:p.Met407fs
  • LRG_694t1:c.1219_1220del
  • LRG_694:g.26078AT[1]
  • LRG_694p1:p.Met407fs
  • NC_000012.11:g.88514913AT[1]
  • NC_000012.11:g.88514913_88514914del
  • NG_008417.1:g.26078AT[1]
  • NM_025114.3:c.1219_1220delAT
  • NM_025114.4:c.1219_1220del
Protein change:
M407fs
Links:
dbSNP: rs386834148
NCBI 1000 Genomes Browser:
rs386834148
Molecular consequence:
  • NM_025114.4:c.1219_1220del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Leber congenital amaurosis (LCA)
Synonyms:
Congenital retinal blindness; Leber's amaurosis
Identifiers:
MONDO: MONDO:0018998; MeSH: D057130; MedGen: C0339527; OMIM: PS204000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002094336Natera, Inc.
no assertion criteria provided
Pathogenic
(Jan 3, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002094336.1

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

Last Updated: May 7, 2024