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NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 16, 2021
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:
RCV002505632.1

Allele description [Variation Report for NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs)]

NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs)

Genes:
RLIG1:RNA 5'-phosphate and 3'-OH ligase 1 [Gene - HGNC]
CEP290:centrosomal protein 290 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
12q21.32
Genomic location:
Preferred name:
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs)
HGVS:
  • NC_000012.12:g.88049292CTTCT[1]
  • NC_000012.12:g.88049292_88049296CTTCT[1]
  • NG_008417.2:g.97916AGAAG[1]
  • NM_001009894.3:c.*870CTTCT[1]MANE SELECT
  • NM_025114.4:c.7328_7332delMANE SELECT
  • NP_079390.3:p.Glu2443fs
  • LRG_694t1:c.7328_7332del
  • LRG_694:g.97916AGAAG[1]
  • LRG_694p1:p.Glu2443fs
  • NC_000012.11:g.88443069CTTCT[1]
  • NC_000012.11:g.88443069_88443073del
  • NM_025114.3:c.7328_7332del
  • NM_025114.3:c.7328_7332del5
  • NM_025114.3:c.7328_7332delAGAAG
Protein change:
E2443fs
Links:
dbSNP: rs747138345
NCBI 1000 Genomes Browser:
rs747138345
Molecular consequence:
  • NM_001009894.3:c.*870CTTCT[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_025114.4:c.7328_7332del - 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
SCV002816237Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 16, 2021) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002816237.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024