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NC_000021.8:g.(?_44838130)_(45196150_?)dup AND Developmental and epileptic encephalopathy, 30

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 29, 2020
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:
RCV001365199.2

Allele description [Variation Report for NC_000021.8:g.(?_44838130)_(45196150_?)dup]

NC_000021.8:g.(?_44838130)_(45196150_?)dup

Genes:
CSTB:cystatin B [Gene - OMIM - HGNC]
HSF2BP:heat shock transcription factor 2 binding protein [Gene - OMIM - HGNC]
PDXK:pyridoxal kinase [Gene - OMIM - HGNC]
RRP1B:ribosomal RNA processing 1B [Gene - OMIM - HGNC]
SIK1:salt inducible kinase 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
21q22.3
Genomic location:
Chr21: 44838130 - 45196150 (on Assembly GRCh37)
Preferred name:
NC_000021.8:g.(?_44838130)_(45196150_?)dup
HGVS:
NC_000021.8:g.(?_44838130)_(45196150_?)dup

Condition(s)

Name:
Developmental and epileptic encephalopathy, 30 (DEE30)
Synonyms:
Epileptic encephalopathy, early infantile, 30
Identifiers:
MONDO: MONDO:0014595; MedGen: C4225360; OMIM: 616341

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001561458Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Oct 29, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001561458.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant results in a copy number gain of the genomic region encompassing exons 1-12 of the SIK1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 12 of the SIK1 gene. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with SIK1-related conditions. 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.

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

Last Updated: Sep 29, 2024