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NM_014141.6(CNTNAP2):c.1273G>A (p.Asp425Asn) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 17, 2014
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:
RCV000187180.1

Allele description [Variation Report for NM_014141.6(CNTNAP2):c.1273G>A (p.Asp425Asn)]

NM_014141.6(CNTNAP2):c.1273G>A (p.Asp425Asn)

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.1273G>A (p.Asp425Asn)
HGVS:
  • NC_000007.14:g.147132434G>A
  • NG_007092.3:g.1021434G>A
  • NM_014141.6:c.1273G>AMANE SELECT
  • NP_054860.1:p.Asp425Asn
  • NC_000007.13:g.146829526G>A
  • NG_007092.2:g.1021074G>A
  • NM_014141.5:c.1273G>A
  • p.D425N
Protein change:
D425N
Links:
dbSNP: rs796052373
NCBI 1000 Genomes Browser:
rs796052373
Molecular consequence:
  • NM_014141.6:c.1273G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000240760GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 17, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000240760.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Asp425Asn (GAC>AAC): c.1273 G>A in exon 8 of the CNTNAP2 gene (NM_014141.5). The D425N variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D425N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals, and a missense mutation in a nearby residue (L426I) has been reported. However, in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).

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

Last Updated: May 7, 2024