NC_000023.10:g.(?_117629935)_(119761021_?)dup AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 27, 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:: RCV003109599.3

Allele description [Variation Report for NC_000023.10:g.(?_117629935)_(119761021_?)dup]

NC_000023.10:g.(?_117629935)_(119761021_?)dup

Genes:

AKAP14:A-kinase anchoring protein 14 [Gene - OMIM - HGNC]
ATP1B4:ATPase Na+/K+ transporting family member beta 4 [Gene - OMIM - HGNC]
C1GALT1C1:C1GALT1 specific chaperone 1 [Gene - OMIM - HGNC]
KIAA1210:KIAA1210 [Gene - OMIM - HGNC]
LONRF3:LON peptidase N-terminal domain and ring finger 3 [Gene - HGNC]
MCTS1:MCTS1 re-initiation and release factor [Gene - OMIM - HGNC]
NDUFA1:NADH:ubiquinone oxidoreductase subunit A1 [Gene - OMIM - HGNC]
NKAP:NFKB activating protein [Gene - OMIM - HGNC]
NKRF:NFKB repressing factor [Gene - OMIM - HGNC]
RHOXF1:Rhox homeobox family member 1 [Gene - OMIM - HGNC]
RHOXF2:Rhox homeobox family member 2 [Gene - OMIM - HGNC]
RHOXF2B:Rhox homeobox family member 2B [Gene - HGNC]
STEEP1:STING1 ER exit protein 1 [Gene - OMIM - HGNC]
UPF3B:UPF3B regulator of nonsense mediated mRNA decay [Gene - OMIM - HGNC]
CUL4B:cullin 4B [Gene - OMIM - HGNC]
DOCK11:dedicator of cytokinesis 11 [Gene - OMIM - HGNC]
IL13RA1:interleukin 13 receptor subunit alpha 1 [Gene - OMIM - HGNC]
LAMP2:lysosomal associated membrane protein 2 [Gene - OMIM - HGNC]
PGRMC1:progesterone receptor membrane component 1 [Gene - OMIM - HGNC]
RPL39:ribosomal protein L39 [Gene - OMIM - HGNC]
RNF113A:ring finger protein 113A [Gene - OMIM - HGNC]
SEPTIN6:septin 6 [Gene - OMIM - HGNC]
SLC25A43:solute carrier family 25 member 43 [Gene - OMIM - HGNC]
SLC25A5:solute carrier family 25 member 5 [Gene - OMIM - HGNC]
SOWAHD:sosondowah ankyrin repeat domain family member D [Gene - HGNC]
TMEM255A:transmembrane protein 255A [Gene - HGNC]
UBE2A:ubiquitin conjugating enzyme E2 A [Gene - OMIM - HGNC]
ZCCHC12:zinc finger CCHC-type containing 12 [Gene - OMIM - HGNC]
ZBTB33:zinc finger and BTB domain containing 33 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xq24

Genomic location:

ChrX: 117629935 - 119761021 (on Assembly GRCh37)

Preferred name:

NC_000023.10:g.(?_117629935)_(119761021_?)dup

HGVS:

NC_000023.10:g.(?_117629935)_(119761021_?)dup

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
SCV003791586	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 27, 2022)	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

SCV003791586

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 27, 2022)

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	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):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV003791586.2

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

Description

A copy number gain of the genomic region encompassing the full coding sequence of the RNF113A 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 RNF113A-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.

#	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: Nov 11, 2023

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