NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 23, 2024
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:: RCV000766789.4

Allele description [Variation Report for NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr)]

NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr)

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.515T>C (p.Ile172Thr)

Other names:

p.I172T:ATT>ACT

HGVS:

NC_000007.14:g.147044019T>C
NG_007092.3:g.933019T>C
NM_014141.6:c.515T>CMANE SELECT
NP_054860.1:p.Ile172Thr
NC_000007.13:g.146741111T>C
NG_007092.2:g.932659T>C
NM_014141.5:c.515T>C

Protein change:

I172T

Links:

dbSNP: rs201326295

NCBI 1000 Genomes Browser:

rs201326295

Molecular consequence:

NM_014141.6:c.515T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000240840	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 23, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000240840

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 23, 2024)

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, SCV000240840.13

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

Description

Observed in an individual with complex partial seizures in published literature (PMID: 31875159); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28719003, 26740555, 24807215, 36975488, 31875159)

#	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 16, 2025

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