NM_001170629.2(CHD8):c.1690C>T (p.Arg564Ter) AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Apr 1, 2017)

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:
RCV000440969.4

Allele description [Variation Report for NM_001170629.2(CHD8):c.1690C>T (p.Arg564Ter)]

NM_001170629.2(CHD8):c.1690C>T (p.Arg564Ter)

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.1690C>T (p.Arg564Ter)
HGVS:
  • NC_000014.9:g.21426154G>A
  • NG_021249.1:g.16145C>T
  • NM_001170629.2:c.1690C>TMANE SELECT
  • NM_020920.4:c.853C>T
  • NP_001164100.1:p.Arg564Ter
  • NP_001164100.1:p.Arg564Ter
  • NP_065971.2:p.Arg285Ter
  • NC_000014.8:g.21894313G>A
  • NM_001170629.1:c.1690C>T
Protein change:
R285*
Links:
dbSNP: rs1057524677
NCBI 1000 Genomes Browser:
rs1057524677
Molecular consequence:
  • NM_001170629.2:c.1690C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_020920.4:c.853C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000536219GeneDxcriteria provided, single submitter
Pathogenic
(Jan 23, 2017)
germlineclinical testing

Citation Link,

SCV000608692CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely pathogenic
(Apr 1, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000536219.4

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

Description

The R564X variant in the CHD8 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R564X variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R564X as a pathogenic variant.

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV000608692.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 10, 2021

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