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NM_001170629.2(CHD8):c.6243T>A (p.Ser2081=) AND Inborn genetic diseases

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 24, 2018
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:
RCV002363401.2

Allele description [Variation Report for NM_001170629.2(CHD8):c.6243T>A (p.Ser2081=)]

NM_001170629.2(CHD8):c.6243T>A (p.Ser2081=)

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.6243T>A (p.Ser2081=)
HGVS:
  • NC_000014.9:g.21393552A>T
  • NG_021249.1:g.48747T>A
  • NM_001170629.2:c.6243T>AMANE SELECT
  • NM_020920.4:c.5406T>A
  • NP_001164100.1:p.Ser2081=
  • NP_065971.2:p.Ser1802=
  • NC_000014.8:g.21861711A>T
  • NC_000014.8:g.21861711A>T
  • NM_001170629.1:c.6243T>A
Links:
dbSNP: rs201856289
NCBI 1000 Genomes Browser:
rs201856289
Molecular consequence:
  • NM_001170629.2:c.6243T>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_020920.4:c.5406T>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002658668Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Dec 24, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002658668.2

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

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024