NM_003632.3(CNTNAP1):c.1_1629-1del AND CNTNAP1-related disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 26, 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:: RCV000985145.1

Allele description [Variation Report for NM_003632.3(CNTNAP1):c.1_1629-1del]

NM_003632.3(CNTNAP1):c.1_1629-1del

Genes:

LOC130060922:ATAC-STARR-seq lymphoblastoid active region 12221 [Gene]
LOC125177481:Sharpr-MPRA regulatory region 245 [Gene]
CNTNAP1:contactin associated protein 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_003632.3(CNTNAP1):c.1_1629-1del

HGVS:

NC_000017.11:g.42682830_42689520del
NG_042091.1:g.5217_11907del
NM_003632.3:c.1_1629-1delMANE SELECT
NC_000017.10:g.40834848_40841538del
NM_003632.2:c.1_1629-1del

Molecular consequence:

NM_003632.3:c.1_1629-1del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_003632.3:c.1_1629-1del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_003632.3:c.1_1629-1del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: CNTNAP1-related disorder
Synonyms:: CNTNAP1-related disease; CNTNAP1-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001133134	Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	no assertion criteria provided	Likely pathogenic (Sep 26, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001133134

Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

no assertion criteria provided

Likely pathogenic
(Sep 26, 2019)

germline

clinical testing

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

Details of each submission

From Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV001133134.2

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

#	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: May 12, 2024

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