NM_014141.6(CNTNAP2):c.1263T>C (p.Asn421=) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 29, 2019
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:: RCV001639855.3

Allele description [Variation Report for NM_014141.6(CNTNAP2):c.1263T>C (p.Asn421=)]

NM_014141.6(CNTNAP2):c.1263T>C (p.Asn421=)

Gene:

CNTNAP2:contactin associated protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q35

Genomic location:

Preferred name:

NM_014141.6(CNTNAP2):c.1263T>C (p.Asn421=)

HGVS:

NC_000007.14:g.147132424T>C
NG_007092.3:g.1021424T>C
NM_014141.6:c.1263T>CMANE SELECT
NP_054860.1:p.Asn421=
NC_000007.13:g.146829516T>C
NM_014141.5:c.1263T>C

Links:

dbSNP: rs369718091

NCBI 1000 Genomes Browser:

rs369718091

Molecular consequence:

NM_014141.6:c.1263T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Atrioventricular canal defect
Atrioventricular canal defect

MedGen
C1389016[conceptid] (1)
MedGen
Chain G, Major prion protein
Chain G, Major prion protein
gi|2724755332|pdb|8WZX|G

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001849501	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Aug 29, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001849501

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Aug 29, 2019)

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

Details of each submission

From GeneDx, SCV001849501.1

#	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: Sep 29, 2024

ClinVar

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