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NM_025114.4(CEP290):c.366del (p.Lys122fs) AND Senior-Loken syndrome 6

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 31, 2023
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:
RCV003324630.3

Allele description [Variation Report for NM_025114.4(CEP290):c.366del (p.Lys122fs)]

NM_025114.4(CEP290):c.366del (p.Lys122fs)

Gene:
CEP290:centrosomal protein 290 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q21.32
Genomic location:
Preferred name:
NM_025114.4(CEP290):c.366del (p.Lys122fs)
HGVS:
  • NC_000012.12:g.88136722del
  • NG_008417.2:g.10499del
  • NM_025114.4:c.366delMANE SELECT
  • NP_079390.3:p.Lys122fs
  • LRG_694t1:c.366del
  • LRG_694:g.10499del
  • LRG_694p1:p.Lys122fs
  • NC_000012.11:g.88530499del
Protein change:
K122fs
Molecular consequence:
  • NM_025114.4:c.366del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Senior-Loken syndrome 6 (SLSN6)
Identifiers:
MONDO: MONDO:0012433; MedGen: C1857779; Orphanet: 3156; OMIM: 610189

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004030207MVZ Medizinische Genetik Mainz
no assertion criteria provided
Pathogenic
(May 31, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV004030207.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 2, 2024