NM_001170629.2(CHD8):c.4009C>T (p.Arg1337Ter) AND Autism, susceptibility to, 18

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000032830.6

Allele description [Variation Report for NM_001170629.2(CHD8):c.4009C>T (p.Arg1337Ter)]

NM_001170629.2(CHD8):c.4009C>T (p.Arg1337Ter)

Gene:
CHD8:chromodomain helicase DNA binding protein 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_001170629.2(CHD8):c.4009C>T (p.Arg1337Ter)
HGVS:
  • NC_000014.9:g.21402010G>A
  • NG_021249.1:g.40289C>T
  • NM_001170629.2:c.4009C>TMANE SELECT
  • NM_020920.4:c.3172C>T
  • NP_001164100.1:p.Arg1337Ter
  • NP_065971.2:p.Arg1058Ter
  • NC_000014.8:g.21870169G>A
  • NM_001170629.1:c.4009C>T
Protein change:
R1058*; ARG1337TER
Links:
OMIM: 610528.0005; dbSNP: rs397514552
NCBI 1000 Genomes Browser:
rs397514552
Molecular consequence:
  • NM_001170629.2:c.4009C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_020920.4:c.3172C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Autism, susceptibility to, 18 (AUTS18)
Identifiers:
MONDO: MONDO:0014017; MedGen: C3554373; OMIM: 615032

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000056599OMIMno assertion criteria providedrisk factor
(Dec 21, 2012)
germlineliterature only

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

SCV001367769Centre for Mendelian Genomics,University Medical Centre Ljubljanacriteria provided, single submitter
Pathogenic
(Jan 1, 2016)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, et al.

Science. 2012 Dec 21;338(6114):1619-22. doi: 10.1126/science.1227764. Epub 2012 Nov 15.

PubMed [citation]
PMID:
23160955
PMCID:
PMC3528801

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 OMIM, SCV000056599.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 63-month-old non-Hispanic white male diagnosed with autism (AUTS18; 615032), O'Roak et al. (2012) detected a heterozygous de novo substitution at codon 1337 of the CHD8 gene (arg1337 to ter, R1337X). The patient was 1 of 4 children born to the same parents and the third of 6 pregnancies (the mother's first and fourth pregnancies resulted in miscarriage within 13 weeks). Verbal IQ was low (79), nonverbal IQ average (92), and adaptive score low (58). His head circumference was 55.4 cm (z score = 2.5).

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

From Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV001367769.2

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

Description

This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3.

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

Last Updated: Jul 10, 2021

Support Center