NM_145200.5(CABP4):c.370C>T (p.Arg124Cys) AND Cone-rod synaptic disorder, congenital nonprogressive

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 27, 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:: RCV000002030.7

Allele description [Variation Report for NM_145200.5(CABP4):c.370C>T (p.Arg124Cys)]

NM_145200.5(CABP4):c.370C>T (p.Arg124Cys)

Gene:

CABP4:calcium binding protein 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

Preferred name:

NM_145200.5(CABP4):c.370C>T (p.Arg124Cys)

HGVS:

NC_000011.10:g.67456191C>T
NG_021211.1:g.5845C>T
NM_001300895.3:c.55C>T
NM_001300896.3:c.55C>T
NM_001379183.1:c.55C>T
NM_145200.5:c.370C>TMANE SELECT
NP_001287824.1:p.Arg19Cys
NP_001287825.1:p.Arg19Cys
NP_001366112.1:p.Arg19Cys
NP_660201.1:p.Arg124Cys
NC_000011.9:g.67223662C>T
NM_145200.3:c.370C>T
P57796:p.Arg124Cys

Protein change:

R124C; ARG124CYS

Links:

UniProtKB: P57796#VAR_029375; OMIM: 608965.0002; dbSNP: rs121917828

NCBI 1000 Genomes Browser:

rs121917828

Molecular consequence:

NM_001300895.3:c.55C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001300896.3:c.55C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001379183.1:c.55C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_145200.5:c.370C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cone-rod synaptic disorder, congenital nonprogressive
Synonyms:: NIGHT BLINDNESS, CONGENITAL STATIONARY, INCOMPLETE, AUTOSOMAL RECESSIVE; Congenital stationary night blindness, type 2B
Identifiers:: MONDO: MONDO:0012490; MedGen: C4041558; Orphanet: 215; OMIM: 610427

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000022188	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 2006)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV001260991	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 27, 2017)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 16960802, 25258313, 19074807, 23099293, 20157620 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000022188

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 2006)

germline

literature only

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

SCV001260991

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 27, 2017)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.

Zeitz C, Kloeckener-Gruissem B, Forster U, Kohl S, Magyar I, Wissinger B, Mátyás G, Borruat FX, Schorderet DF, Zrenner E, Munier FL, Berger W.

Am J Hum Genet. 2006 Oct;79(4):657-67. Epub 2006 Aug 23.

PubMed [citation]

PMID:: 16960802
PMCID:: PMC1592568

Structural insights into activation of the retinal L-type Ca²⁺ channel (Cav1.4) by Ca²⁺-binding protein 4 (CaBP4).

Park S, Li C, Haeseleer F, Palczewski K, Ames JB.

J Biol Chem. 2014 Nov 7;289(45):31262-73. doi: 10.1074/jbc.M114.604439. Epub 2014 Sep 25.

PubMed [citation]

PMID:: 25258313
PMCID:: PMC4223327

See all PubMed Citations (5)

Details of each submission

From OMIM, SCV000022188.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 15-year-old boy of Swiss ancestry with congenital nonprogressive cone-rod synaptic disorder (CRSD; 610427), Zeitz et al. (2006) identified compound heterozygosity for a 2-bp deletion in the CABP4 gene (608965.0001) and a c.370C-T transition in exon 2, predicted to introduce a binding site for SRp55 (SRSF6; 601944) and influence splicing, or to result in an arg124-to-cys (R124C) substitution. His unaffected parents were each heterozygous for 1 of the mutations, which were not found in 216 or 228 control alleles, respectively. The patient exhibited CABP4 transcript levels 30 to 40% of those found in controls.

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

From Illumina Laboratory Services, Illumina, SCV001260991.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Feb 28, 2024

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