GRCh37/hg19 7q33(chr7:133064191-134008520)x3 AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 2, 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:: RCV000682877.1

Allele description [Variation Report for GRCh37/hg19 7q33(chr7:133064191-134008520)x3]

GRCh37/hg19 7q33(chr7:133064191-134008520)x3

Genes:

EXOC4:exocyst complex component 4 [Gene - OMIM - HGNC]
LRGUK:leucine rich repeats and guanylate kinase domain containing [Gene - OMIM - HGNC]
SLC35B4:solute carrier family 35 member B4 [Gene - OMIM - HGNC]
LOC101928861:uncharacterized LOC101928861 [Gene]

Variant type:

copy number gain

Cytogenetic location:

7q33

Genomic location:

Chr7: 133064191 - 134008520 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 7q33(chr7:133064191-134008520)x3

HGVS:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

PREDICTED: multifunctional methyltransferase subunit TRM112-like protein isoform...
PREDICTED: multifunctional methyltransferase subunit TRM112-like protein isoform X2 [Branchiostoma belcheri]
gi|1126189154|ref|XP_019627428.1|

Protein
Loss of Chromosome 1q
Loss of Chromosome 1q

MedGen
t(1;2)(q25;p23)
t(1;2)(q25;p23)

MedGen
t(1;14)(p22;q32)
t(1;14)(p22;q32)

MedGen
t(1;3)(p36;q23-25)
t(1;3)(p36;q23-25)

MedGen

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000810384	Quest Diagnostics Nichols Institute San Juan Capistrano	no assertion criteria provided	Likely benign (Feb 2, 2018)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000810384

Quest Diagnostics Nichols Institute San Juan Capistrano

no assertion criteria provided

Likely benign
(Feb 2, 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, SCV000810384.1

#	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

ClinVar

Relating variation to medicine