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

Clinical significance:Uncertain significance (Last evaluated: Jan 11, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000515191.2

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]

Condition(s)

Name:
Autism 15 (AUTS15)
Synonyms:
AUTISM, SUSCEPTIBILITY TO, 15
Identifiers:
MONDO: MONDO:0012801; MedGen: C2677504; OMIM: 612100
Name:
Pitt-Hopkins-like syndrome 1 (PTHSL1)
Synonyms:
Cortical dysplasia-focal epilepsy syndrome
Identifiers:
MONDO: MONDO:0012400; MedGen: C2750246; Orphanet: 221150; OMIM: 610042

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000611461Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(May 23, 2017)
unknownclinical testing

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

SCV000898622Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicagocriteria provided, single submitter
Uncertain significance
(Jan 11, 2018)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics,Fulgent Genetics, SCV000611461.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV000898622.1

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

Description

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 in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs371839994). This variant is present in ClinVar (Variation ID:205233). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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

Last Updated: Oct 30, 2021

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