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

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV002508920.3

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 10 (LCA10)
Synonyms:
Amaurosis congenita of Leber, type 10
Identifiers:
MONDO: MONDO:0012723; MedGen: C1857821; Orphanet: 65; OMIM: 611755
Name:
Meckel syndrome, type 4 (MKS4)
Synonyms:
MECKEL-GRUBER SYNDROME, TYPE 4
Identifiers:
MONDO: MONDO:0012626; MedGen: C1970161; Orphanet: 564; OMIM: 611134
Name:
Senior-Loken syndrome 6 (SLSN6)
Identifiers:
MONDO: MONDO:0012433; MedGen: C1857779; Orphanet: 3156; OMIM: 610189
Name:
Joubert syndrome 5 (JBTS5)
Identifiers:
MONDO: MONDO:0012432; MedGen: C1857780; Orphanet: 2318; OMIM: 610188
Name:
Bardet-Biedl syndrome 14 (BBS14)
Identifiers:
MONDO: MONDO:0014442; MedGen: C2673874; Orphanet: 110; OMIM: 615991

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002818318GenomeConnect, ClinGen
no classification provided
not providedmaternalphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV002818318.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant classified as Pathogenic and reported on 10-22-2021 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024