GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 AND Premature ovarian insufficiency

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000852349.2

Allele description [Variation Report for GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1]

GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1

Genes:

AFF2:ALF transcription elongation factor 2 [Gene - OMIM - HGNC]
ABCD1:ATP binding cassette subfamily D member 1 [Gene - OMIM - HGNC]
ATP6AP1:ATPase H+ transporting accessory protein 1 [Gene - OMIM - HGNC]
ATP11C:ATPase phospholipid transporting 11C [Gene - OMIM - HGNC]
ATP2B3:ATPase plasma membrane Ca2+ transporting 3 [Gene - OMIM - HGNC]
BCAP31:B cell receptor associated protein 31 [Gene - OMIM - HGNC]
BCORL1:BCL6 corepressor like 1 [Gene - OMIM - HGNC]
BRCC3:BRCA1/BRCA2-containing complex subunit 3 [Gene - OMIM - HGNC]
CMC4:C-X9-C motif containing 4 [Gene - OMIM - HGNC]
CD40LG:CD40 ligand [Gene - OMIM - HGNC]
CD99L2:CD99 molecule like 2 [Gene - OMIM - HGNC]
CSAG3:CSAG family member 3 [Gene - OMIM - HGNC]
DCAF12L1:DDB1 and CUL4 associated factor 12 like 1 [Gene - HGNC]
DCAF12L2:DDB1 and CUL4 associated factor 12 like 2 [Gene - HGNC]
ELF4:E74 like ETS transcription factor 4 [Gene - OMIM - HGNC]
FAM3A:FAM3 metabolism regulating signaling molecule A [Gene - OMIM - HGNC]
FRMD7:FERM domain containing 7 [Gene - OMIM - HGNC]
FMR1-AS1:FMR1 antisense RNA 1 [Gene - OMIM - HGNC]
FMR1NB:FMR1 neighbor [Gene - HGNC]
FUNDC2:FUN14 domain containing 2 [Gene - OMIM - HGNC]
GPR101:G protein-coupled receptor 101 [Gene - OMIM - HGNC]
GPR119:G protein-coupled receptor 119 [Gene - OMIM - HGNC]
GPR50:G protein-coupled receptor 50 [Gene - OMIM - HGNC]
GDI1:GDP dissociation inhibitor 1 [Gene - OMIM - HGNC]
GPR50-AS1:GPR50 antisense RNA 1 [Gene - HGNC]
GAB3:GRB2 associated binding protein 3 [Gene - OMIM - HGNC]
H2AB1:H2A.B variant histone 1 [Gene - OMIM - HGNC]
H2AB2:H2A.B variant histone 2 [Gene - OMIM - HGNC]
H2AB3:H2A.B variant histone 3 [Gene - OMIM - HGNC]
HAUS7:HAUS augmin like complex subunit 7 [Gene - OMIM - HGNC]
HTATSF1:HIV-1 Tat specific factor 1 [Gene - OMIM - HGNC]
LAGE3:L antigen family member 3 [Gene - OMIM - HGNC]
L1CAM:L1 cell adhesion molecule [Gene - OMIM - HGNC]
LDOC1:LDOC1 regulator of NFKB signaling [Gene - OMIM - HGNC]
MAGEA10:MAGE family member A10 [Gene - OMIM - HGNC]
MAGEA11:MAGE family member A11 [Gene - OMIM - HGNC]
MAGEA12:MAGE family member A12 [Gene - OMIM - HGNC]
MAGEA1:MAGE family member A1 [Gene - OMIM - HGNC]
MAGEA2:MAGE family member A2 [Gene - OMIM - HGNC]
MAGEA2B:MAGE family member A2B [Gene - OMIM - HGNC]
MAGEA3:MAGE family member A3 [Gene - OMIM - HGNC]
MAGEA4:MAGE family member A4 [Gene - OMIM - HGNC]
MAGEA6:MAGE family member A6 [Gene - OMIM - HGNC]
MAGEA8:MAGE family member A8 [Gene - OMIM - HGNC]
MAGEA9:MAGE family member A9 [Gene - OMIM - HGNC]
MAGEA9B:MAGE family member A9B [Gene - OMIM - HGNC]
MAGEC1:MAGE family member C1 [Gene - OMIM - HGNC]
MAGEC2:MAGE family member C2 [Gene - OMIM - HGNC]
MAGEC3:MAGE family member C3 [Gene - OMIM - HGNC]
MPP1:MAGUK p55 scaffold protein 1 [Gene - OMIM - HGNC]
MAP7D3:MAP7 domain containing 3 [Gene - OMIM - HGNC]
MCF2:MCF.2 cell line derived transforming sequence [Gene - OMIM - HGNC]
NAA10:N-alpha-acetyltransferase 10, NatA catalytic subunit [Gene - OMIM - HGNC]
NSDHL:NAD(P) dependent steroid dehydrogenase-like [Gene - OMIM - HGNC]
OCRL:OCRL inositol polyphosphate-5-phosphatase [Gene - OMIM - HGNC]
PABIR2:PABIR family member 2 [Gene - HGNC]
PABIR3:PABIR family member 3 [Gene - HGNC]
PASD1:PAS domain containing repressor 1 [Gene - OMIM - HGNC]
PDZD4:PDZ domain containing 4 [Gene - OMIM - HGNC]
PHF6:PHD finger protein 6 [Gene - OMIM - HGNC]
PNMA3:PNMA family member 3 [Gene - OMIM - HGNC]
PNMA5:PNMA family member 5 [Gene - OMIM - HGNC]
PNMA6A:PNMA family member 6A [Gene - OMIM - HGNC]
PNMA6E:PNMA family member 6E [Gene - HGNC]
RAB33A:RAB33A, member RAS oncogene family [Gene - OMIM - HGNC]
RAB39B:RAB39B, member RAS oncogene family [Gene - OMIM - HGNC]
RAP2C:RAP2C, member of RAS oncogene family [Gene - OMIM - HGNC]
RBMX2:RNA binding motif protein X-linked 2 [Gene - HGNC]
RBMX:RNA binding motif protein X-linked [Gene - OMIM - HGNC]
ARHGEF6:Rac/Cdc42 guanine nucleotide exchange factor 6 [Gene - OMIM - HGNC]
ARHGAP36:Rho GTPase activating protein 36 [Gene - OMIM - HGNC]
ARHGAP4:Rho GTPase activating protein 4 [Gene - OMIM - HGNC]
SASH3:SAM and SH3 domain containing 3 [Gene - OMIM - HGNC]
SH2D1A:SH2 domain containing 1A [Gene - OMIM - HGNC]
SLITRK2:SLIT and NTRK like family member 2 [Gene - OMIM - HGNC]
SLITRK4:SLIT and NTRK like family member 4 [Gene - OMIM - HGNC]
SPANXA2:SPANX family member A2 [Gene - OMIM - HGNC]
SPANXB1:SPANX family member B1 [Gene - OMIM - HGNC]
SPANXC:SPANX family member C [Gene - OMIM - HGNC]
SPANXD:SPANX family member D [Gene - OMIM - HGNC]
SPANXN1:SPANX family member N1 [Gene - OMIM - HGNC]
SPANXN2:SPANX family member N2 [Gene - OMIM - HGNC]
SPANXN3:SPANX family member N3 [Gene - OMIM - HGNC]
SPANXN4:SPANX family member N4 [Gene - OMIM - HGNC]
SRPK3:SRSF protein kinase 3 [Gene - OMIM - HGNC]
SOX3:SRY-box transcription factor 3 [Gene - OMIM - HGNC]
SMARCA1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 [Gene - OMIM - HGNC]
THOC2:THO complex subunit 2 [Gene - OMIM - HGNC]
UTP14A:UTP14A small subunit processome component [Gene - OMIM - HGNC]
VBP1:VHL binding protein 1 [Gene - OMIM - HGNC]
XIAP:X-linked inhibitor of apoptosis [Gene - OMIM - HGNC]
XPNPEP2:X-prolyl aminopeptidase 2 [Gene - OMIM - HGNC]
ZFP92:ZFP92 zinc finger protein [Gene - HGNC]
ZIC3:Zic family member 3 [Gene - OMIM - HGNC]
ACTRT1:actin related protein T1 [Gene - OMIM - HGNC]
ADGRG4:adhesion G protein-coupled receptor G4 [Gene - OMIM - HGNC]
APLN:apelin [Gene - OMIM - HGNC]
AIFM1:apoptosis inducing factor mitochondria associated 1 [Gene - OMIM - HGNC]
AVPR2:arginine vasopressin receptor 2 [Gene - OMIM - HGNC]
BGN:biglycan [Gene - OMIM - HGNC]
BRS3:bombesin receptor subtype 3 [Gene - OMIM - HGNC]
CTAG1A:cancer/testis antigen 1A [Gene - OMIM - HGNC]
CTAG1B:cancer/testis antigen 1B [Gene - OMIM - HGNC]
CTAG2:cancer/testis antigen 2 [Gene - OMIM - HGNC]
CT55:cancer/testis antigen 55 [Gene - HGNC]
CT45A1:cancer/testis antigen family 45 member A1 [Gene - OMIM - HGNC]
CT45A2:cancer/testis antigen family 45 member A2 [Gene - OMIM - HGNC]
CT45A3:cancer/testis antigen family 45 member A3 [Gene - OMIM - HGNC]
CT45A5:cancer/testis antigen family 45 member A5 [Gene - OMIM - HGNC]
CT45A6:cancer/testis antigen family 45 member A6 [Gene - OMIM - HGNC]
CETN2:centrin 2 [Gene - OMIM - HGNC]
CDR1:cerebellar degeneration related 1 [Gene - OMIM - HGNC]
CLIC2:chloride intracellular channel 2 [Gene - OMIM - HGNC]
CSAG1:chondrosarcoma associated gene 1 [Gene - OMIM - HGNC]
CXorf51A:chromosome X open reading frame 51A [Gene - HGNC]
CXorf51B:chromosome X open reading frame 51B [Gene - HGNC]
CXorf66:chromosome X open reading frame 66 [Gene - HGNC]
F9:coagulation factor IX [Gene - OMIM - HGNC]
F8A1:coagulation factor VIII associated 1 [Gene - OMIM - HGNC]
F8A2:coagulation factor VIII associated 2 [Gene - HGNC]
F8A3:coagulation factor VIII associated 3 [Gene - HGNC]
F8:coagulation factor VIII [Gene - OMIM - HGNC]
CCDC160:coiled-coil domain containing 160 [Gene - HGNC]
CNGA2:cyclic nucleotide gated channel subunit alpha 2 [Gene - OMIM - HGNC]
CCNQ:cyclin Q [Gene - OMIM - HGNC]
DNASE1L1:deoxyribonuclease 1 like 1 [Gene - OMIM - HGNC]
DUSP9:dual specificity phosphatase 9 [Gene - OMIM - HGNC]
DKC1:dyskerin pseudouridine synthase 1 [Gene - OMIM - HGNC]
ENOX2:ecto-NOX disulfide-thiol exchanger 2 [Gene - OMIM - HGNC]
EMD:emerin [Gene - OMIM - HGNC]
EOLA1:endothelium and lymphocyte associated ASCH domain 1 [Gene - OMIM - HGNC]
EOLA2:endothelium and lymphocyte associated ASCH domain 2 [Gene - HGNC]
LOC100509091:extracellular matrix protein 2-like [Gene]
FAM50A:family with sequence similarity 50 member A [Gene - OMIM - HGNC]
FATE1:fetal and adult testis expressed 1 [Gene - OMIM - HGNC]
FGF13:fibroblast growth factor 13 [Gene - OMIM - HGNC]
FLNA:filamin A [Gene - OMIM - HGNC]
FHL1:four and a half LIM domains 1 [Gene - OMIM - HGNC]
FMR1:fragile X messenger ribonucleoprotein 1 [Gene - OMIM - HGNC]
GABRA3:gamma-aminobutyric acid type A receptor subunit alpha3 [Gene - OMIM - HGNC]
GABRE:gamma-aminobutyric acid type A receptor subunit epsilon [Gene - OMIM - HGNC]
GABRQ:gamma-aminobutyric acid type A receptor subunit theta [Gene - OMIM - HGNC]
G6PD:glucose-6-phosphate dehydrogenase [Gene - OMIM - HGNC]
GPC3:glypican 3 [Gene - OMIM - HGNC]
GPC4:glypican 4 [Gene - OMIM - HGNC]
HSFX1:heat shock transcription factor family, X-linked 1 [Gene - HGNC]
HSFX2:heat shock transcription factor family, X-linked 2 [Gene - HGNC]
HS6ST2:heparan sulfate 6-O-sulfotransferase 2 [Gene - OMIM - HGNC]
HMGB3:high mobility group box 3 [Gene - OMIM - HGNC]
HCFC1:host cell factor C1 [Gene - OMIM - HGNC]
HPRT1:hypoxanthine phosphoribosyltransferase 1 [Gene - OMIM - HGNC]
IDS:iduronate 2-sulfatase [Gene - OMIM - HGNC]
IGSF1:immunoglobulin superfamily member 1 [Gene - OMIM - HGNC]
IKBKG:inhibitor of nuclear factor kappa B kinase regulatory subunit gamma [Gene - OMIM - HGNC]
INTS6L:integrator complex subunit 6 like [Gene - HGNC]
IRAK1:interleukin 1 receptor associated kinase 1 [Gene - OMIM - HGNC]
IDH3G:isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma [Gene - OMIM - HGNC]
MAMLD1:mastermind like domain containing 1 [Gene - OMIM - HGNC]
MTCP1:mature T cell proliferation 1 [Gene - OMIM - HGNC]
MMGT1:membrane magnesium transporter 1 [Gene - OMIM - HGNC]
MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]
MIR105-1:microRNA 105-1 [Gene - OMIM - HGNC]
MIR105-2:microRNA 105-2 [Gene - OMIM - HGNC]
MIR106A:microRNA 106a [Gene - OMIM - HGNC]
MIR19B2:microRNA 19b-2 [Gene - OMIM - HGNC]
MIR224:microRNA 224 [Gene - OMIM - HGNC]
MIR424:microRNA 424 [Gene - OMIM - HGNC]
MIR503:microRNA 503 [Gene - OMIM - HGNC]
MIR506:microRNA 506 [Gene - OMIM - HGNC]
MIR508:microRNA 508 [Gene - OMIM - HGNC]
MIR509-1:microRNA 509-1 [Gene - OMIM - HGNC]
MIR509-3:microRNA 509-3 [Gene - OMIM - HGNC]
MIR510:microRNA 510 [Gene - OMIM - HGNC]
MOSPD1:motile sperm domain containing 1 [Gene - OMIM - HGNC]
MBNL3:muscleblind like splicing regulator 3 [Gene - OMIM - HGNC]
MTM1:myotubularin 1 [Gene - OMIM - HGNC]
MTMR1:myotubularin related protein 1 [Gene - OMIM - HGNC]
OR13H1:olfactory receptor family 13 subfamily H member 1 [Gene - HGNC]
OPN1LW:opsin 1, long wave sensitive [Gene - OMIM - HGNC]
OPN1MW2:opsin 1, medium wave sensitive 2 [Gene - HGNC]
OPN1MW:opsin 1, medium wave sensitive [Gene - OMIM - HGNC]
PLAC1:placenta enriched 1 [Gene - OMIM - HGNC]
PLXNA3:plexin A3 [Gene - OMIM - HGNC]
PLXNB3:plexin B3 [Gene - OMIM - HGNC]
PNCK:pregnancy up-regulated nonubiquitous CaM kinase [Gene - OMIM - HGNC]
PRR32:proline rich 32 [Gene - HGNC]
PRRG3:proline rich and Gla domain 3 [Gene - OMIM - HGNC]
RENBP:renin binding protein [Gene - OMIM - HGNC]
RTL8A:retrotransposon Gag like 8A [Gene - HGNC]
RTL8B:retrotransposon Gag like 8B [Gene - HGNC]
RTL8C:retrotransposon Gag like 8C [Gene - OMIM - HGNC]
RPL10:ribosomal protein L10 [Gene - OMIM - HGNC]
SAGE1:sarcoma antigen 1 [Gene - OMIM - HGNC]
STK26:serine/threonine kinase 26 [Gene - OMIM - HGNC]
SSR4:signal sequence receptor subunit 4 [Gene - OMIM - HGNC]
SMIM10:small integral membrane protein 10 [Gene - HGNC]
SMIM9:small integral membrane protein 9 [Gene - HGNC]
SLC10A3:solute carrier family 10 member 3 [Gene - OMIM - HGNC]
SLC25A14:solute carrier family 25 member 14 [Gene - OMIM - HGNC]
SLC6A8:solute carrier family 6 member 8 [Gene - OMIM - HGNC]
SLC9A6:solute carrier family 9 member A6 [Gene - OMIM - HGNC]
SPANXA1:sperm protein associated with the nucleus, X-linked, family member A1 [Gene - OMIM - HGNC]
STAG2:stromal antigen 2 [Gene - OMIM - HGNC]
TAFAZZIN:tafazzin, phospholipid-lysophospholipid transacylase [Gene - OMIM - HGNC]
TENM1:teneurin transmembrane protein 1 [Gene - OMIM - HGNC]
TEX28:testis expressed 28 [Gene - OMIM - HGNC]
TREX2:three prime repair exonuclease 2 [Gene - OMIM - HGNC]
TFDP3:transcription factor Dp family member 3 [Gene - OMIM - HGNC]
TKTL1:transketolase like 1 [Gene - OMIM - HGNC]
TMEM185A:transmembrane protein 185A [Gene - OMIM - HGNC]
TMEM187:transmembrane protein 187 [Gene - OMIM - HGNC]
TMLHE:trimethyllysine hydroxylase, epsilon [Gene - OMIM - HGNC]
UBE2NL:ubiquitin conjugating enzyme E2 N like (gene/pseudogene) [Gene - HGNC]
UBL4A:ubiquitin like 4A [Gene - OMIM - HGNC]
USP26:ubiquitin specific peptidase 26 [Gene - OMIM - HGNC]
VMA21:vacuolar ATPase assembly factor VMA21 [Gene - OMIM - HGNC]
VGLL1:vestigial like family member 1 [Gene - OMIM - HGNC]
ZDHHC9:zinc finger DHHC-type palmitoyltransferase 9 [Gene - OMIM - HGNC]
ZNF185:zinc finger protein 185 with LIM domain [Gene - OMIM - HGNC]
ZNF275:zinc finger protein 275 [Gene - HGNC]
ZNF280C:zinc finger protein 280C [Gene - HGNC]
ZNF449:zinc finger protein 449 [Gene - OMIM - HGNC]
ZNF75D:zinc finger protein 75D [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

Xq25-28

Genomic location:

ChrX: 122757437 - 155208244 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1

HGVS:

Condition(s)

Name:: Premature ovarian insufficiency
Synonyms:: Premature menopause
Identifiers:: MONDO: MONDO:0001119; MedGen: C0025322; Human Phenotype Ontology: HP:0008209

Recent activity

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Dictyostelium discoideum AX4 hypothetical protein (pctA) mRNA, complete cds
Dictyostelium discoideum AX4 hypothetical protein (pctA) mRNA, complete cds
gi|66826664|ref|XM_641595.1|

Nucleotide
sentrin-specific protease 7 isoform X4 [Homo sapiens]
sentrin-specific protease 7 isoform X4 [Homo sapiens]
gi|767927292|ref|XP_011511344.1|

Protein
LOC127882493 [Homo sapiens]
LOC127882493 [Homo sapiens]
Gene ID:127882493

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000897650	Human Genetics Laboratory, State University of Rio de Janeiro	no assertion criteria provided	Likely pathogenic	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000897650

Human Genetics Laboratory, State University of Rio de Janeiro

no assertion criteria provided

Likely pathogenic

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Human Genetics Laboratory, State University of Rio de Janeiro, SCV000897650.1

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

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

Last Updated: Mar 26, 2023

ClinVar

Relating variation to medicine

GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 AND Premature ovarian insufficiency

Allele description [Variation Report for GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1]

GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From Human Genetics Laboratory, State University of Rio de Janeiro, SCV000897650.1