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NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu) AND History of neurodevelopmental disorder

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 6, 2019
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:
RCV000719883.1

Allele description

NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu)

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.1325G>A (p.Gly442Glu)
HGVS:
  • NC_000014.9:g.21428145C>T
  • NG_021249.1:g.14154G>A
  • NM_001170629.2:c.1325G>AMANE SELECT
  • NM_020920.4:c.488G>A
  • NP_001164100.1:p.Gly442Glu
  • NP_001164100.1:p.Gly442Glu
  • NP_065971.2:p.Gly163Glu
  • NC_000014.8:g.21896304C>T
  • NM_001170629.1:c.1325G>A
Protein change:
G163E
Links:
dbSNP: rs553367989
NCBI 1000 Genomes Browser:
rs553367989
Molecular consequence:
  • NM_001170629.2:c.1325G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020920.4:c.488G>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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000850754Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))		Likely benign
(May 6, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000850754.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

In silico models in agreement (benign);Other data supporting benign classification

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

Last Updated: Oct 29, 2022