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NC_000002.11:g.(?_201943606)_(204824322_?)dup AND Autoimmune lymphoproliferative syndrome type 2B

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 19, 2022
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:
RCV003105677.2

Allele description

NC_000002.11:g.(?_201943606)_(204824322_?)dup

Genes:
  • C2CD6:C2 calcium dependent domain containing 6 [Gene - OMIM - HGNC]
  • CFLAR:CASP8 and FADD like apoptosis regulator [Gene - OMIM - HGNC]
  • CD28:CD28 molecule [Gene - OMIM - HGNC]
  • MPP4:MAGUK p55 scaffold protein 4 [Gene - OMIM - HGNC]
  • NDUFB3:NADH:ubiquinone oxidoreductase subunit B3 [Gene - OMIM - HGNC]
  • NOP58:NOP58 ribonucleoprotein [Gene - OMIM - HGNC]
  • RAPH1:Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 [Gene - OMIM - HGNC]
  • STRADB:STE20 related adaptor beta [Gene - OMIM - HGNC]
  • WDR12:WD repeat domain 12 [Gene - OMIM - HGNC]
  • ABI2:abl interactor 2 [Gene - OMIM - HGNC]
  • ALS2:alsin Rho guanine nucleotide exchange factor ALS2 [Gene - OMIM - HGNC]
  • BMPR2:bone morphogenetic protein receptor type 2 [Gene - OMIM - HGNC]
  • CARF:calcium responsive transcription factor [Gene - OMIM - HGNC]
  • CASP10:caspase 10 [Gene - OMIM - HGNC]
  • CASP8:caspase 8 [Gene - OMIM - HGNC]
  • CDK15:cyclin dependent kinase 15 [Gene - OMIM - HGNC]
  • CYP20A1:cytochrome P450 family 20 subfamily A member 1 [Gene - HGNC]
  • CTLA4:cytotoxic T-lymphocyte associated protein 4 [Gene - OMIM - HGNC]
  • FAM117B:family with sequence similarity 117 member B [Gene - HGNC]
  • FLACC1:flagellum associated containing coiled-coil domains 1 [Gene - OMIM - HGNC]
  • FZD7:frizzled class receptor 7 [Gene - OMIM - HGNC]
  • ICOS:inducible T cell costimulator [Gene - OMIM - HGNC]
  • ICA1L:islet cell autoantigen 1 like [Gene - HGNC]
  • NBEAL1:neurobeachin like 1 [Gene - OMIM - HGNC]
  • SUMO1:small ubiquitin like modifier 1 [Gene - OMIM - HGNC]
  • TRAK2:trafficking kinesin protein 2 [Gene - OMIM - HGNC]
  • TMEM237:transmembrane protein 237 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q33.1-33.2
Genomic location:
Chr2: 201943606 - 204824322 (on Assembly GRCh37)
Preferred name:
NC_000002.11:g.(?_201943606)_(204824322_?)dup
HGVS:
NC_000002.11:g.(?_201943606)_(204824322_?)dup

Condition(s)

Name:
Autoimmune lymphoproliferative syndrome type 2B
Synonyms:
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB; Caspase-8 deficiency
Identifiers:
MONDO: MONDO:0011804; MedGen: C1846545; Orphanet: 275517; OMIM: 607271

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003793389Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Aug 19, 2022) 		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 Invitae, SCV003793389.1

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

Description

A copy number gain of the genomic region encompassing the full coding sequence of the CASP8 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. 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 affected with CASP8-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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: Oct 14, 2023