NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) AND History of neurodevelopmental disorder

Clinical significance:Uncertain significance (Last evaluated: Jan 29, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000718421.1

Allele description [Variation Report for NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn)]

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

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.1145G>A (p.Ser382Asn)
Other names:
p.S382N:AGT>AAT
HGVS:
  • NC_000007.14:g.147132306G>A
  • NG_007092.2:g.1020946G>A
  • NG_007092.3:g.1021306G>A
  • NM_014141.6:c.1145G>AMANE SELECT
  • NP_054860.1:p.Ser382Asn
  • NC_000007.13:g.146829398G>A
  • NM_014141.5:c.1145G>A
  • Q9UHC6:p.Ser382Asn
Protein change:
S382N
Links:
UniProtKB: Q9UHC6#VAR_046231; dbSNP: rs371839994
NCBI 1000 Genomes Browser:
rs371839994
Molecular consequence:
  • NM_014141.6:c.1145G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000849284Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Jan 29, 2018)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.

Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW.

Am J Hum Genet. 2008 Jan;82(1):165-73. doi: 10.1016/j.ajhg.2007.09.017.

PubMed [citation]
PMID:
18179895
PMCID:
PMC2253974

A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering.

Han TU, Park J, Domingues CF, Moretti-Ferreira D, Paris E, Sainz E, Gutierrez J, Drayna D.

Neurobiol Dis. 2014 Sep;69:23-31. doi: 10.1016/j.nbd.2014.04.019. Epub 2014 May 5.

PubMed [citation]
PMID:
24807205
PMCID:
PMC4099264

Details of each submission

From Ambry Genetics, SCV000849284.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

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 position 1145. The serine at codon 382 is replaced by asparagine, an amino acid with highly similar properties. This alteration was detected in one White-Hispanic control subject in a case-control study of 635 patients with autism spectrum disorder and 942 controls (Bakkaloglu B et al. Am. J. Hum. Genet., 2008 Jan;82:165-73) and one Brazilian patient in a case-control study of 602 unrelated cases with familial persistent developmental stuttering compared to a matched group of 487 well characterized neurologically normal controls (Han TU et al. Neurobiol. Dis., 2014 Sep;69:23-31). 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 variant remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 30, 2021

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