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NM_145200.5(CABP4):c.61_62delinsA (p.Pro21fs) AND Cone-rod synaptic disorder, congenital nonprogressive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 25, 2019
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:
RCV000786935.2

Allele description [Variation Report for NM_145200.5(CABP4):c.61_62delinsA (p.Pro21fs)]

NM_145200.5(CABP4):c.61_62delinsA (p.Pro21fs)

Gene:
CABP4:calcium binding protein 4 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_145200.5(CABP4):c.61_62delinsA (p.Pro21fs)
HGVS:
  • NC_000011.10:g.67455484_67455485delinsA
  • NG_021211.1:g.5138_5139delinsA
  • NM_001300895.3:c.-323_-322delinsA
  • NM_001300896.3:c.-112-225_-112-224delinsA
  • NM_001379183.1:c.-337_-336delinsA
  • NM_145200.5:c.61_62delinsAMANE SELECT
  • NP_660201.1:p.Pro21fs
  • NC_000011.9:g.67222955_67222956delinsA
  • NR_166529.1:n.131_132delinsA
Protein change:
P21fs
Links:
dbSNP: rs1590998813
NCBI 1000 Genomes Browser:
rs1590998813
Molecular consequence:
  • NM_001300895.3:c.-323_-322delinsA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001379183.1:c.-337_-336delinsA - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_145200.5:c.61_62delinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001300896.3:c.-112-225_-112-224delinsA - intron variant - [Sequence Ontology: SO:0001627]
  • NR_166529.1:n.131_132delinsA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000925839Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
no assertion criteria provided
Pathogenic
(Jan 25, 2019) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV000925839.1

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

Last Updated: Mar 4, 2023