GRCh37/hg19 Xp11.3-11.23(chrX:44663115-48237646)x3 AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 26, 2023
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:: RCV003485287.1

Allele description [Variation Report for GRCh37/hg19 Xp11.3-11.23(chrX:44663115-48237646)x3]

GRCh37/hg19 Xp11.3-11.23(chrX:44663115-48237646)x3

Genes:

ARAF:A-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
ELK1:ETS transcription factor ELK1 [Gene - OMIM - HGNC]
KRBOX4:KRAB box domain containing 4 [Gene - OMIM - HGNC]
NDUFB11:NADH:ubiquinone oxidoreductase subunit B11 [Gene - OMIM - HGNC]
RBM10:RNA binding motif protein 10 [Gene - OMIM - HGNC]
RP2:RP2 activator of ARL3 GTPase [Gene - OMIM - HGNC]
SSX1:SSX family member 1 [Gene - OMIM - HGNC]
SSX3:SSX family member 3 [Gene - OMIM - HGNC]
SSX5:SSX family member 5 [Gene - OMIM - HGNC]
TIMP1:TIMP metallopeptidase inhibitor 1 [Gene - OMIM - HGNC]
CHST7:carbohydrate sulfotransferase 7 [Gene - OMIM - HGNC]
CFP:complement factor properdin [Gene - OMIM - HGNC]
CDK16:cyclin dependent kinase 16 [Gene - OMIM - HGNC]
DIPK2B:divergent protein kinase domain 2B [Gene - OMIM - HGNC]
DUSP21:dual specificity phosphatase 21 [Gene - OMIM - HGNC]
INE1:inactivation escape 1 [Gene - OMIM - HGNC]
JADE3:jade family PHD finger 3 [Gene - OMIM - HGNC]
LINC01560:long intergenic non-protein coding RNA 1560 [Gene - HGNC]
KDM6A:lysine demethylase 6A [Gene - OMIM - HGNC]
MIR221:microRNA 221 [Gene - OMIM - HGNC]
MIR222:microRNA 222 [Gene - OMIM - HGNC]
RGN:regucalcin [Gene - OMIM - HGNC]
SLC9A7:solute carrier family 9 member A7 [Gene - OMIM - HGNC]
SPACA5:sperm acrosome associated 5 [Gene - OMIM - HGNC]
SPACA5B:sperm acrosome associated 5B [Gene - HGNC]
SYN1:synapsin I [Gene - OMIM - HGNC]
UBA1:ubiquitin like modifier activating enzyme 1 [Gene - OMIM - HGNC]
USP11:ubiquitin specific peptidase 11 [Gene - OMIM - HGNC]
UXT:ubiquitously expressed prefoldin like chaperone [Gene - OMIM - HGNC]
ZNF157:zinc finger protein 157 [Gene - OMIM - HGNC]
ZNF182:zinc finger protein 182 [Gene - OMIM - HGNC]
ZNF41:zinc finger protein 41 [Gene - OMIM - HGNC]
ZNF630:zinc finger protein 630 [Gene - OMIM - HGNC]
ZNF674:zinc finger protein 674 [Gene - OMIM - HGNC]
ZNF81:zinc finger protein 81 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

Xp11.3-11.23

Genomic location:

ChrX: 44663115 - 48237646 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 Xp11.3-11.23(chrX:44663115-48237646)x3

HGVS:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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chromatin modification-related protein MEAF6 isoform X1 [Homo sapiens]
chromatin modification-related protein MEAF6 isoform X1 [Homo sapiens]
gi|2217270172|ref|XP_047283998.1|

Protein
PREDICTED: Homo sapiens MYST/Esa1 associated factor 6 (MEAF6), transcript varian...
PREDICTED: Homo sapiens MYST/Esa1 associated factor 6 (MEAF6), transcript variant X1, mRNA
gi|2462512697|ref|XM_054338299.1|

Nucleotide
Homo sapiens MYST/Esa1 associated factor 6 (MEAF6), transcript variant 6, non-co...
Homo sapiens MYST/Esa1 associated factor 6 (MEAF6), transcript variant 6, non-coding RNA
gi|1890529781|ref|NR_073092.3|

Nucleotide
PREDICTED: Homo sapiens adaptor related protein complex 1 subunit gamma 2 (AP1G2...
PREDICTED: Homo sapiens adaptor related protein complex 1 subunit gamma 2 (AP1G2), transcript variant X20, mRNA
gi|2217298765|ref|XM_047431860.1|

Nucleotide
Bacillus sp. RMRC-SP-2-2 16S ribosomal RNA gene, partial sequence
Bacillus sp. RMRC-SP-2-2 16S ribosomal RNA gene, partial sequence
gi|635662320|gb|KJ560365.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004231213	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (ACMG/ClinGen CNV Guidelines, 2019)	Uncertain significance (Apr 26, 2023)	unknown	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

SCV004231213

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(ACMG/ClinGen CNV Guidelines, 2019)

Uncertain significance
(Apr 26, 2023)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

PubMed [citation]

PMID:: 31690835
PMCID:: PMC7313390

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004231213.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 4, 2024

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