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NM_014141.6(CNTNAP2):c.1105G>T (p.Val369Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 19, 2016
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:
RCV002313248.9

Allele description [Variation Report for NM_014141.6(CNTNAP2):c.1105G>T (p.Val369Leu)]

NM_014141.6(CNTNAP2):c.1105G>T (p.Val369Leu)

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.1105G>T (p.Val369Leu)
HGVS:
  • NC_000007.14:g.147132266G>T
  • NG_007092.3:g.1021266G>T
  • NM_014141.6:c.1105G>TMANE SELECT
  • NP_054860.1:p.Val369Leu
  • NC_000007.13:g.146829358G>T
  • NG_007092.2:g.1020906G>T
  • NM_014141.5:c.1105G>T
Protein change:
V369L
Links:
dbSNP: rs368057493
NCBI 1000 Genomes Browser:
rs368057493
Molecular consequence:
  • NM_014141.6:c.1105G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000847611Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 19, 2016) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

[Prevention of orthopedic complications].

Lemaire.

Rev Infirm. 1984 May;34(9):39-44. French. No abstract available.

PubMed [citation]
PMID:
6564677

Details of each submission

From Ambry Genetics, SCV000847611.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.V369L variant (also known as c.1105G>T), located in coding exon 8 of the CNTNAP2 gene, results from a G to T substitution at nucleotide position 1105. The valine at codon 369 is replaced by leucine, an amino acid with highly similar properties. This alteration was detected in an individual with significant language impairment (SLI) and normal nonverbal cognition. Of note, this individual also carried the c.701T>C alteration in the ROBO1 gene; the phase of these two alterations was not determined (Chen, et al. bioRxiv 2016 June) This variant was previously reported in the SNPDatabase as rs368057493. Based on data from the NHLBI Exome Sequencing Project (ESP), the T allele has an overall frequency of approximately 0.01% (1/13006) total alleles studied and 0.01% (1/8600) European American alleles. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 8, 2024