NM_000330.4(RS1):c.375_378del (p.Ile125_Asp126insTer) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 7, 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:: RCV000085288.11

Allele description [Variation Report for NM_000330.4(RS1):c.375_378del (p.Ile125_Asp126insTer)]

NM_000330.4(RS1):c.375_378del (p.Ile125_Asp126insTer)

Genes:

CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
RS1:retinoschisin 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

Xp22.13

Genomic location:

Preferred name:

NM_000330.4(RS1):c.375_378del (p.Ile125_Asp126insTer)

HGVS:

NC_000023.11:g.18644574ATCT[1]
NG_008475.1:g.223970ATCT[1]
NG_008659.3:g.37868AGAT[1]
NM_000330.4:c.375_378delMANE SELECT
NM_001037343.2:c.2714-1429_2714-1426del
NM_003159.3:c.2714-1429_2714-1426del
NP_000321.1:p.Asp126Terfs
NP_000321.1:p.Ile125_Asp126insTer
LRG_702t1:c.371_374AGAT[1]
LRG_702:g.37868AGAT[1]
LRG_702p1:p.Asp126Terfs
NC_000023.10:g.18662694ATCT[1]
NM_000330.3:c.371_374AGAT[1]
NM_000330.3:c.375_378delAGAT

Links:

dbSNP: rs61752148

NCBI 1000 Genomes Browser:

rs61752148

Molecular consequence:

NM_000330.4:c.375_378del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001037343.2:c.2714-1429_2714-1426del - intron variant - [Sequence Ontology: SO:0001627]
NM_003159.3:c.2714-1429_2714-1426del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000117425	Retina International	no classification provided	not provided	unknown	not provided
SCV000565499	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Mar 7, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000117425

Retina International

no classification provided

not provided

unknown

not provided

SCV000565499

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Mar 7, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Details of each submission

From Retina International, SCV000117425.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From GeneDx, SCV000565499.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.375_378delAGAT pathogenic variant in the RS1 gene has been reported previously in association with X-linked juvenile retinoschisis (Retinoschisis Consortium 1998; Hiriyanna et al., 1999; Tantri et al., 2003). It changes codon Aspartic acid 126 to a premature Stop codon, denoted p.Asp126Ter. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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