NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys) AND History of neurodevelopmental disorder

Clinical significance:Likely benign (Last evaluated: Mar 10, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000719345.1

Allele description [Variation Report for NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys)]

NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys)

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.6085G>A (p.Glu2029Lys)
HGVS:
  • NC_000014.9:g.21393710C>T
  • NG_021249.1:g.48589G>A
  • NM_001170629.2:c.6085G>AMANE SELECT
  • NM_020920.4:c.5248G>A
  • NP_001164100.1:p.Glu2029Lys
  • NP_001164100.1:p.Glu2029Lys
  • NP_065971.2:p.Glu1750Lys
  • NC_000014.8:g.21861869C>T
  • NM_001170629.1:c.6085G>A
Protein change:
E1750K
Links:
dbSNP: rs145300090
NCBI 1000 Genomes Browser:
rs145300090
Molecular consequence:
  • NM_001170629.2:c.6085G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020920.4:c.5248G>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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000850211Ambry Geneticscriteria provided, single submitter
Likely benign
(Mar 10, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000850211.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 18, 2021

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