GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1 AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 27, 2017
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:: RCV000513510.3

Allele description [Variation Report for GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1]

GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1

Genes:

ABI3:ABI family member 3 [Gene - OMIM - HGNC]
ABCC3:ATP binding cassette subfamily C member 3 [Gene - OMIM - HGNC]
ATP5MC1:ATP synthase membrane subunit c locus 1 [Gene - OMIM - HGNC]
GNGT2:G protein subunit gamma transducin 2 [Gene - OMIM - HGNC]
LUC7L3:LUC7 like 3 pre-mRNA splicing factor [Gene - OMIM - HGNC]
MYCBPAP:MYCBP associated protein [Gene - OMIM - HGNC]
NME1:NME/NM23 nucleoside diphosphate kinase 1 [Gene - OMIM - HGNC]
NME2:NME/NM23 nucleoside diphosphate kinase 2 [Gene - OMIM - HGNC]
NME1-NME2:NME1-NME2 readthrough [Gene - HGNC]
PRAC1:PRAC1 small nuclear protein [Gene - OMIM - HGNC]
PRAC2:PRAC2 small nuclear protein [Gene - OMIM - HGNC]
SNF8:SNF8 subunit of ESCRT-II [Gene - OMIM - HGNC]
UTP18:UTP18 small subunit processome component [Gene - OMIM - HGNC]
WFIKKN2:WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 [Gene - OMIM - HGNC]
ACSF2:acyl-CoA synthetase family member 2 [Gene - OMIM - HGNC]
ANKRD40:ankyrin repeat domain 40 [Gene - HGNC]
B4GALNT2:beta-1,4-N-acetyl-galactosaminyltransferase 2 [Gene - OMIM - HGNC]
CALCOCO2:calcium binding and coiled-coil domain 2 [Gene - OMIM - HGNC]
CACNA1G:calcium voltage-gated channel subunit alpha1 G [Gene - OMIM - HGNC]
CA10:carbonic anhydrase 10 [Gene - OMIM - HGNC]
CHAD:chondroadherin [Gene - OMIM - HGNC]
COL1A1:collagen type I alpha 1 chain [Gene - OMIM - HGNC]
DLX3:distal-less homeobox 3 [Gene - OMIM - HGNC]
DLX4:distal-less homeobox 4 [Gene - OMIM - HGNC]
EPN3:epsin 3 [Gene - OMIM - HGNC]
EME1:essential meiotic structure-specific endonuclease 1 [Gene - OMIM - HGNC]
FAM117A:family with sequence similarity 117 member A [Gene - HGNC]
GIP:gastric inhibitory polypeptide [Gene - OMIM - HGNC]
HOXB13:homeobox B13 [Gene - OMIM - HGNC]
HOXB1:homeobox B1 [Gene - OMIM - HGNC]
HOXB2:homeobox B2 [Gene - OMIM - HGNC]
HOXB3:homeobox B3 [Gene - OMIM - HGNC]
HOXB4:homeobox B4 [Gene - OMIM - HGNC]
HOXB5:homeobox B5 [Gene - OMIM - HGNC]
HOXB6:homeobox B6 [Gene - OMIM - HGNC]
HOXB7:homeobox B7 [Gene - OMIM - HGNC]
HOXB8:homeobox B8 [Gene - OMIM - HGNC]
HOXB9:homeobox B9 [Gene - OMIM - HGNC]
IGF2BP1:insulin like growth factor 2 mRNA binding protein 1 [Gene - OMIM - HGNC]
ITGA3:integrin subunit alpha 3 [Gene - OMIM - HGNC]
LRRC59:leucine rich repeat containing 59 [Gene - OMIM - HGNC]
LINC02876:long intergenic non-protein coding RNA 2876 [Gene - HGNC]
KAT7:lysine acetyltransferase 7 [Gene - OMIM - HGNC]
MBTD1:mbt domain containing 1 [Gene - OMIM - HGNC]
MIR10A:microRNA 10a [Gene - OMIM - HGNC]
MIR196A1:microRNA 196a-1 [Gene - OMIM - HGNC]
MRPL27:mitochondrial ribosomal protein L27 [Gene - OMIM - HGNC]
NGFR:nerve growth factor receptor [Gene - OMIM - HGNC]
NXPH3:neurexophilin 3 [Gene - OMIM - HGNC]
PHOSPHO1:phosphoethanolamine/phosphocholine phosphatase 1 [Gene - HGNC]
PHB1:prohibitin 1 [Gene - OMIM - HGNC]
PPP1R9B:protein phosphatase 1 regulatory subunit 9B [Gene - OMIM - HGNC]
PDK2:pyruvate dehydrogenase kinase 2 [Gene - OMIM - HGNC]
RSAD1:radical S-adenosyl methionine domain containing 1 [Gene - HGNC]
SGCA:sarcoglycan alpha [Gene - OMIM - HGNC]
SLC35B1:solute carrier family 35 member B1 [Gene - OMIM - HGNC]
SPOP:speckle type BTB/POZ protein [Gene - OMIM - HGNC]
SPAG9:sperm associated antigen 9 [Gene - OMIM - HGNC]
SPATA20:spermatogenesis associated 20 [Gene - OMIM - HGNC]
SKAP1:src kinase associated phosphoprotein 1 [Gene - OMIM - HGNC]
SAMD14:sterile alpha motif domain containing 14 [Gene - OMIM - HGNC]
TRQ-TTG1-1:tRNA-Gln (anticodon TTG) 1-1 [Gene - OMIM - HGNC]
TAC4:tachykinin precursor 4 [Gene - OMIM - HGNC]
TOB1:transducer of ERBB2, 1 [Gene - OMIM - HGNC]
TMEM92:transmembrane protein 92 [Gene - OMIM - HGNC]
TTLL6:tubulin tyrosine ligase like 6 [Gene - OMIM - HGNC]
UBE2Z:ubiquitin conjugating enzyme E2 Z [Gene - OMIM - HGNC]
XYLT2:xylosyltransferase 2 [Gene - OMIM - HGNC]
ZNF652:zinc finger protein 652 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

17q21.32-22

Genomic location:

Chr17: 46481089 - 51396368 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1

HGVS:

NC_000017.10:g.(?_46481089)_(51396368_?)del

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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Nuclear Hormone Receptor family [Caenorhabditis elegans]
Nuclear Hormone Receptor family [Caenorhabditis elegans]
gi|17566798|ref|NP_507334.1|

Protein
thialysine N-epsilon-acetyltransferase isoform X1 [Homo sapiens]
thialysine N-epsilon-acetyltransferase isoform X1 [Homo sapiens]
gi|2462552700|ref|XP_054170837.1|

Protein
PREDICTED: Rattus norvegicus pyruvate carboxylase (Pc), transcript variant X1, m...
PREDICTED: Rattus norvegicus pyruvate carboxylase (Pc), transcript variant X1, mRNA
gi|2678863455|ref|XM_063281274.1|

Nucleotide
Nutrition Disorders
Nutrition Disorders
Disorders caused by nutritional imbalance, either overnutrition or undernutrition.<br/>Year introduced: MALNUTRITION was see under DEFICIENCY DISEASES 1963-1966

MeSH
Skin Diseases, Genetic
Skin Diseases, Genetic
Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.<br/>Year introduced: 1998

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000609441	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)	Likely pathogenic (Mar 27, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000609441

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)

Likely pathogenic
(Mar 27, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000609441.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 24, 2022

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