NM_001170629.2(CHD8):c.1791AGA[3] (p.Glu601del) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(2);Uncertain significance(1) (Last evaluated: Oct 18, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000761866.4

Allele description [Variation Report for NM_001170629.2(CHD8):c.1791AGA[3] (p.Glu601del)]

NM_001170629.2(CHD8):c.1791AGA[3] (p.Glu601del)

Gene:
CHD8:chromodomain helicase DNA binding protein 8 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_001170629.2(CHD8):c.1791AGA[3] (p.Glu601del)
HGVS:
  • NC_000014.9:g.21415824TTC[3]
  • NG_021249.1:g.26466AGA[3]
  • NM_001170629.2:c.1791AGA[3]MANE SELECT
  • NM_020920.4:c.954AGA[3]
  • NP_001164100.1:p.Glu601del
  • NP_065971.2:p.Glu322del
  • NC_000014.8:g.21883983TTC[3]
  • NM_001170629.1:c.1800_1802delAGA
Protein change:
E322del
Links:
dbSNP: rs757502536
NCBI 1000 Genomes Browser:
rs757502536
Molecular consequence:
  • NM_001170629.2:c.1791AGA[3] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_020920.4:c.954AGA[3] - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000892080CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Sep 30, 2018)
germlineclinical testing

Citation Link,

SCV001044560Invitaecriteria provided, single submitter
Likely benign
(Feb 9, 2018)
germlineclinical testing

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

SCV001787217GeneDxcriteria provided, single submitter
Likely benign
(Oct 18, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV000892080.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Invitae, SCV001044560.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001787217.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 24, 2021

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