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NM_001170629.2(CHD8):c.1076C>T (p.Ser359Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 18, 2023
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:
RCV004439075.1

Allele description [Variation Report for NM_001170629.2(CHD8):c.1076C>T (p.Ser359Leu)]

NM_001170629.2(CHD8):c.1076C>T (p.Ser359Leu)

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.1076C>T (p.Ser359Leu)
HGVS:
  • NC_000014.9:g.21429103G>A
  • NG_021249.1:g.13196C>T
  • NG_021249.2:g.32020C>T
  • NM_001170629.2:c.1076C>TMANE SELECT
  • NM_020920.4:c.239C>T
  • NP_001164100.1:p.Ser359Leu
  • NP_065971.2:p.Ser80Leu
  • NC_000014.8:g.21897262G>A
  • NM_001170629.1:c.1076C>T
Protein change:
S359L
Molecular consequence:
  • NM_001170629.2:c.1076C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020920.4:c.239C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004923886Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 18, 2023) 		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, SCV004923886.1

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

Description

The c.1076C>T (p.S359L) alteration is located in exon 2 (coding exon 2) of the CHD8 gene. This alteration results from a C to T substitution at nucleotide position 1076, causing the serine (S) at amino acid position 359 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024