NM_001170629.2(CHD8):c.6265TCCAGC[4] (p.Ser2093_Ser2094dup) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jul 22, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002221794.5

Allele description [Variation Report for NM_001170629.2(CHD8):c.6265TCCAGC[4] (p.Ser2093_Ser2094dup)]

NM_001170629.2(CHD8):c.6265TCCAGC[4] (p.Ser2093_Ser2094dup)

Gene:

CHD8:chromodomain helicase DNA binding protein 8 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Preferred name:

NM_001170629.2(CHD8):c.6265TCCAGC[4] (p.Ser2093_Ser2094dup)

HGVS:

NC_000014.9:g.21393513GCTGGA[4]
NG_021249.1:g.48769TCCAGC[4]
NM_001170629.2:c.6265TCCAGC[4]MANE SELECT
NM_020920.4:c.5428TCCAGC[4]
NP_001164100.1:p.Ser2093_Ser2094dup
NP_065971.2:p.Ser1814_Ser1815dup
NC_000014.8:g.21861671_21861672insGCTGGA
NC_000014.8:g.21861672GCTGGA[4]
NM_001170629.1:c.6277_6282dup

Links:

dbSNP: rs749933003

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002498994	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Aug 15, 2022)	germline	clinical testing	Citation Link,
SCV004614686	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 22, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002498994

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Aug 15, 2022)

germline

clinical testing

Citation Link,

SCV004614686

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 22, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From GeneDx, SCV002498994.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

In-frame insertion of 2 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004614686.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1676412). This variant has not been reported in the literature in individuals affected with CHD8-related conditions. This variant is present in population databases (rs749933003, gnomAD 0.008%). This variant, c.6277_6282dup, results in the insertion of 2 amino acid(s) of the CHD8 protein (p.Ser2093_Ser2094dup), but otherwise preserves the integrity of the reading frame.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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