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NM_014141.6(CNTNAP2):c.1778-1G>C

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 3, 2018)
Last evaluated:
Aug 1, 2018
Accession:
VCV000562153.2
Variation ID:
562153
Description:
single nucleotide variant
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NM_014141.6(CNTNAP2):c.1778-1G>C

Allele ID
553317
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q35
Genomic location
7: 147562137 (GRCh38) GRCh38 UCSC
7: 147259229 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.147259229G>C
NC_000007.14:g.147562137G>C
NG_007092.2:g.1450777G>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:147562136:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1396313317
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Aug 1, 2018 RCV000754684.1
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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
1230 1300

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 01, 2018)
criteria provided, single submitter
Method: research
Autism spectrum disorder
Allele origin: de novo
Liping Wei Laboratory,Peking University
Accession: SCV000804776.2
Submitted: (Aug 03, 2018)
Evidence details
Publications
PubMed (1)

Functional evidence

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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

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Title Author Journal Year Link
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. Zhou WZ Human mutation 2019 PMID: 30763456

Text-mined citations for rs1396313317...

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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 Oct 02, 2021