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NC_000011.9:g.(?_123504851)_(126163012_?)del AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 8, 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:
RCV003119756.2

Allele description [Variation Report for NC_000011.9:g.(?_123504851)_(126163012_?)del]

NC_000011.9:g.(?_123504851)_(126163012_?)del

Genes:
  • DDX25:DEAD-box helicase 25 [Gene - OMIM - HGNC]
  • EI24:EI24 autophagy associated transmembrane protein [Gene - OMIM - HGNC]
  • FOXRED1:FAD dependent oxidoreductase domain containing 1 [Gene - OMIM - HGNC]
  • HYLS1:HYLS1 centriolar and ciliogenesis associated [Gene - OMIM - HGNC]
  • MSANTD2:Myb/SANT DNA binding domain containing 2 [Gene - HGNC]
  • PKNOX2:PBX/knotted 1 homeobox 2 [Gene - OMIM - HGNC]
  • RPUSD4:RNA pseudouridine synthase D4 [Gene - OMIM - HGNC]
  • SRPRA:SRP receptor subunit alpha [Gene - OMIM - HGNC]
  • STT3A:STT3 oligosaccharyltransferase complex catalytic subunit A [Gene - OMIM - HGNC]
  • TIRAP:TIR domain containing adaptor protein [Gene - OMIM - HGNC]
  • VSIG2:V-set and immunoglobulin domain containing 2 [Gene - OMIM - HGNC]
  • ACRV1:acrosomal vesicle protein 1 [Gene - OMIM - HGNC]
  • CDON:cell adhesion associated, oncogene regulated [Gene - OMIM - HGNC]
  • CHEK1:checkpoint kinase 1 [Gene - OMIM - HGNC]
  • CCDC15:coiled-coil domain containing 15 [Gene - HGNC]
  • ESAM:endothelial cell adhesion molecule [Gene - OMIM - HGNC]
  • FAM118B:family with sequence similarity 118 member B [Gene - OMIM - HGNC]
  • FEZ1:fasciculation and elongation protein zeta 1 [Gene - OMIM - HGNC]
  • HEPACAM:hepatic and glial cell adhesion molecule [Gene - OMIM - HGNC]
  • HEPN1:hepatocellular carcinoma, down-regulated 1 [Gene - OMIM - HGNC]
  • NRGN:neurogranin [Gene - OMIM - HGNC]
  • OR10G4:olfactory receptor family 10 subfamily G member 4 [Gene - HGNC]
  • OR10G7:olfactory receptor family 10 subfamily G member 7 [Gene - HGNC]
  • OR10G8:olfactory receptor family 10 subfamily G member 8 [Gene - HGNC]
  • OR10G9:olfactory receptor family 10 subfamily G member 9 [Gene - HGNC]
  • OR10S1:olfactory receptor family 10 subfamily S member 1 [Gene - HGNC]
  • OR4D5:olfactory receptor family 4 subfamily D member 5 [Gene - HGNC]
  • OR6M1:olfactory receptor family 6 subfamily M member 1 [Gene - HGNC]
  • OR6T1:olfactory receptor family 6 subfamily T member 1 [Gene - HGNC]
  • OR6X1:olfactory receptor family 6 subfamily X member 1 [Gene - HGNC]
  • OR8A1:olfactory receptor family 8 subfamily A member 1 [Gene - HGNC]
  • OR8B12:olfactory receptor family 8 subfamily B member 12 [Gene - HGNC]
  • OR8B2:olfactory receptor family 8 subfamily B member 2 [Gene - HGNC]
  • OR8B3:olfactory receptor family 8 subfamily B member 3 [Gene - HGNC]
  • OR8B4:olfactory receptor family 8 subfamily B member 4 [Gene - HGNC]
  • OR8B8:olfactory receptor family 8 subfamily B member 8 [Gene - HGNC]
  • OR8D1:olfactory receptor family 8 subfamily D member 1 [Gene - HGNC]
  • OR8D2:olfactory receptor family 8 subfamily D member 2 [Gene - HGNC]
  • OR8D4:olfactory receptor family 8 subfamily D member 4 [Gene - HGNC]
  • OR8G1:olfactory receptor family 8 subfamily G member 1 [Gene - HGNC]
  • OR8G5:olfactory receptor family 8 subfamily G member 5 [Gene - HGNC]
  • PANX3:pannexin 3 [Gene - OMIM - HGNC]
  • PATE1:prostate and testis expressed 1 [Gene - OMIM - HGNC]
  • PATE2:prostate and testis expressed 2 [Gene - HGNC]
  • PATE3:prostate and testis expressed 3 [Gene - HGNC]
  • PATE4:prostate and testis expressed 4 [Gene - HGNC]
  • PUS3:pseudouridine synthase 3 [Gene - OMIM - HGNC]
  • ROBO3:roundabout guidance receptor 3 [Gene - OMIM - HGNC]
  • ROBO4:roundabout guidance receptor 4 [Gene - OMIM - HGNC]
  • SIAE:sialic acid acetylesterase [Gene - OMIM - HGNC]
  • SCN3B:sodium voltage-gated channel beta subunit 3 [Gene - OMIM - HGNC]
  • SLC37A2:solute carrier family 37 member 2 [Gene - OMIM - HGNC]
  • SPA17:sperm autoantigenic protein 17 [Gene - OMIM - HGNC]
  • TBRG1:transforming growth factor beta regulator 1 [Gene - OMIM - HGNC]
  • TMEM218:transmembrane protein 218 [Gene - OMIM - HGNC]
  • TMEM225:transmembrane protein 225 [Gene - HGNC]
  • VWA5A:von Willebrand factor A domain containing 5A [Gene - OMIM - HGNC]
  • ZNF202:zinc finger protein 202 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q24.1-24.2
Genomic location:
Chr11: 123504851 - 126163012 (on Assembly GRCh37)
Preferred name:
NC_000011.9:g.(?_123504851)_(126163012_?)del
HGVS:
NC_000011.9:g.(?_123504851)_(126163012_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003796866Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Aug 8, 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, SCV003796866.1

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

Description

A gross deletion of the genomic region encompassing the full coding sequence of the SIAE gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SIAE cause disease. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with SIAE-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: Dec 9, 2023