GRCh37/hg19 8q22.1(chr8:94810526-95397957)x4 AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 15, 2019
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:: RCV001006121.1

Allele description [Variation Report for GRCh37/hg19 8q22.1(chr8:94810526-95397957)x4]

GRCh37/hg19 8q22.1(chr8:94810526-95397957)x4

Genes:

GEM:GTP binding protein overexpressed in skeletal muscle [Gene - OMIM - HGNC]
RAD54B:RAD54 homolog B [Gene - OMIM - HGNC]
CDH17:cadherin 17 [Gene - OMIM - HGNC]
PDP1:pyruvate dehydrogenase phosphatase catalytic subunit 1 [Gene - OMIM - HGNC]
TMEM67:transmembrane protein 67 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

8q22.1

Genomic location:

Chr8: 94810526 - 95397957 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 8q22.1(chr8:94810526-95397957)x4

HGVS:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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kinesin-like protein KIF3A isoform X3 [Bos indicus x Bos taurus]
kinesin-like protein KIF3A isoform X3 [Bos indicus x Bos taurus]
gi|1542961364|ref|XP_027402891.1|

Protein
PREDICTED: Ipomoea nil serine/threonine-protein phosphatase BSL3 (LOC109160101),...
PREDICTED: Ipomoea nil serine/threonine-protein phosphatase BSL3 (LOC109160101), transcript variant X2, mRNA
gi|1109279081|ref|XM_019308258.1|

Nucleotide
PREDICTED: Danio rerio DEAD-box helicase 3 X-linked a (ddx3xa), transcript varia...
PREDICTED: Danio rerio DEAD-box helicase 3 X-linked a (ddx3xa), transcript variant X4, mRNA
gi|2800598373|ref|XM_021478729.2|

Nucleotide
Alprostadil
Alprostadil
A potent vasodilator agent that increases peripheral blood flow.<br/>Year introduced: 1986

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001165679	Quest Diagnostics Nichols Institute San Juan Capistrano	no assertion criteria provided	Uncertain significance (Jan 15, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001165679

Quest Diagnostics Nichols Institute San Juan Capistrano

no assertion criteria provided

Uncertain significance
(Jan 15, 2019)

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, SCV001165679.1

#	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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Relating variation to medicine