Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 11, 2020
Accession:
VCV000205233.8
Variation ID:
205233
Description:
single nucleotide variant
Help

NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn)

Allele ID
202047
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q35
Genomic location
7: 147132306 (GRCh38) GRCh38 UCSC
7: 146829398 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.146829398G>A
NC_000007.14:g.147132306G>A
NG_007092.2:g.1020946G>A
... more HGVS
Protein change
S382N
Other names
p.S382N:AGT>AAT
Canonical SPDI
NC_000007.14:147132305:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00031
Exome Aggregation Consortium (ExAC) 0.00078
The Genome Aggregation Database (gnomAD) 0.00030
The Genome Aggregation Database (gnomAD) 0.00013
Trans-Omics for Precision Medicine (TOPMed) 0.00059
The Genome Aggregation Database (gnomAD), exomes 0.00094
Links
ClinGen: CA314100
UniProtKB: Q9UHC6#VAR_046231
dbSNP: rs371839994
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Jan 11, 2018 RCV000515191.2
Likely benign 1 criteria provided, single submitter Nov 11, 2020 RCV000227817.7
Uncertain significance 1 criteria provided, single submitter Jan 29, 2018 RCV000718421.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Mar 12, 2018 RCV000187174.8
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CNTNAP2 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37
1266 1336

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 03, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000247051.1
Submitted: (Sep 15, 2015)
Evidence details
Uncertain significance
(May 23, 2017)
criteria provided, single submitter
Method: clinical testing
Pitt-Hopkins-like syndrome 1
Autism 15
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000611461.1
Submitted: (May 23, 2017)
Evidence details
Likely benign
(Mar 12, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000240754.13
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Sep 28, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000856758.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jan 11, 2018)
criteria provided, single submitter
Method: clinical testing
Pitt-Hopkins-like syndrome 1
Pitt-Hopkins-like syndrome 1
Autism 15
Allele origin: germline
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
Accession: SCV000898622.1
Submitted: (Dec 12, 2018)
Evidence details
Comment:
CNTNAP2 NM_014141.5 exon 8 p.Ser382Asn (c.1145G>A): This variant has not been reported in the literature but is is present in 0.7% (220/34350) of Latino alleles … (more)
Uncertain significance
(Jan 29, 2018)
criteria provided, single submitter
Method: clinical testing
History of neurodevelopmental disorder
Allele origin: germline
Ambry Genetics
Accession: SCV000849284.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (2)
Comment:
The p.S382N variant (also known as c.1145G>A), located in coding exon 8 of the CNTNAP2 gene, results from a G to A substitution at nucleotide … (more)
Likely benign
(Nov 11, 2020)
criteria provided, single submitter
Method: clinical testing
Pitt-Hopkins-like syndrome 1
Allele origin: germline
Invitae
Accession: SCV000289924.7
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering. Han TU Neurobiology of disease 2014 PMID: 24807205
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Bakkaloglu B American journal of human genetics 2008 PMID: 18179895
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CNTNAP2 - - - -

Text-mined citations for rs371839994...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021