GRCh37/hg19 20q13.33(chr20:62766314-62915555)x1 AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 22, 2018
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:: RCV000684102.1

Allele description [Variation Report for GRCh37/hg19 20q13.33(chr20:62766314-62915555)x1]

GRCh37/hg19 20q13.33(chr20:62766314-62915555)x1

Genes:: MYT1:myelin transcription factor 1 [Gene - OMIM - HGNC]
PCMTD2:protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 [Gene - HGNC]
Variant type:: copy number loss
Cytogenetic location:: 20q13.33
Genomic location:: Chr20: 62766314 - 62915555 (on Assembly GRCh37)
Preferred name:: GRCh37/hg19 20q13.33(chr20:62766314-62915555)x1
HGVS:: NC_000020.10:g.(?_62766314)_(62915555_?)del
This HGVS expression did not pass validation

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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Arthrobacter sp. B6 Scaffold1_5, whole genome shotgun sequence
Arthrobacter sp. B6 Scaffold1_5, whole genome shotgun sequence
gi|1036671769|gb|LQAP01000005.1||gn :LQAP01|Scaffold1_5

Nucleotide
N-acetylglucosamine-6-phosphate deacetylase isoform X3 [Homo sapiens]
N-acetylglucosamine-6-phosphate deacetylase isoform X3 [Homo sapiens]
gi|1034594729|ref|XP_016878756.1|

Protein
N-acetylglucosamine-6-phosphate deacetylase isoform X2 [Homo sapiens]
N-acetylglucosamine-6-phosphate deacetylase isoform X2 [Homo sapiens]
gi|2462549222|ref|XP_054236404.1|

Protein
AP-1 complex subunit gamma-like 2 isoform X4 [Homo sapiens]
AP-1 complex subunit gamma-like 2 isoform X4 [Homo sapiens]
gi|2462541927|ref|XP_054232860.1|

Protein
LOC107986455 [Homo sapiens]
LOC107986455 [Homo sapiens]
Gene ID:107986455

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000811611	Quest Diagnostics Nichols Institute San Juan Capistrano	no assertion criteria provided	Uncertain significance (Mar 22, 2018)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000811611

Quest Diagnostics Nichols Institute San Juan Capistrano

no assertion criteria provided

Uncertain significance
(Mar 22, 2018)

germline

clinical testing

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

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000811611.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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