GRCh37/hg19 4q28.2(chr4:129938155-130059879)x1 AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 1, 2021
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:: RCV001827594.1

Allele description [Variation Report for GRCh37/hg19 4q28.2(chr4:129938155-130059879)x1]

GRCh37/hg19 4q28.2(chr4:129938155-130059879)x1

Genes:: C4orf33:chromosome 4 open reading frame 33 [Gene - HGNC]
SCLT1:sodium channel and clathrin linker 1 [Gene - OMIM - HGNC]
Variant type:: copy number loss
Cytogenetic location:: 4q28.2
Genomic location:: Chr4: 129938155 - 130059879 (on Assembly GRCh37)
Preferred name:: GRCh37/hg19 4q28.2(chr4:129938155-130059879)x1
HGVS:: NC_000004.11:g.(?_129938155)_(130059879_?)del
This HGVS expression did not pass validation

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

LINC01629 long intergenic non-protein coding RNA 1629 [Homo sapiens]
LINC01629 long intergenic non-protein coding RNA 1629 [Homo sapiens]
Gene ID:105370578

Gene
LINC01629 AND (alive[prop]) (1)
Gene
OR2AK1P (0)
OMIM
4-hydroxyphenylpyruvate dioxygenase-like protein [Mus musculus]
4-hydroxyphenylpyruvate dioxygenase-like protein [Mus musculus]
gi|22122847|ref|NP_666368.1|

Protein
RGS Proteins
RGS Proteins
A large family of evolutionarily conserved proteins that function as negative regulators of HETEROTRIMERIC GTP-BINDING PROTEINS. RGS PROTEINS act by increasing the GTPase acti...<br/>Year introduced: 2000

MeSH

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
SCV002095897	Quest Diagnostics Nichols Institute San Juan Capistrano	no assertion criteria provided	Uncertain significance (May 1, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002095897

Quest Diagnostics Nichols Institute San Juan Capistrano

no assertion criteria provided

Uncertain significance
(May 1, 2021)

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, SCV002095897.1

#	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: May 11, 2022

ClinVar

Relating variation to medicine