GRCh37/hg19 5q12.3(chr5:66028726-66169681)x1 AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 22, 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:: RCV000513374.3

Allele description [Variation Report for GRCh37/hg19 5q12.3(chr5:66028726-66169681)x1]

GRCh37/hg19 5q12.3(chr5:66028726-66169681)x1

Gene:: MAST4:microtubule associated serine/threonine kinase family member 4 [Gene - OMIM - HGNC]
Variant type:: copy number loss
Cytogenetic location:: 5q12.3
Genomic location:: Chr5: 66028726 - 66169681 (on Assembly GRCh37)
Preferred name:: GRCh37/hg19 5q12.3(chr5:66028726-66169681)x1
HGVS:: NC_000005.9:g.(?_66028726)_(66169681_?)del
This HGVS expression did not pass validation
Observations:: 1

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Homo sapiens phospholipid phosphatase related 5 (PLPPR5), transcript variant 1, ...
Homo sapiens phospholipid phosphatase related 5 (PLPPR5), transcript variant 1, mRNA
gi|1519242769|ref|NM_001037317.2|

Nucleotide
PREDICTED: Homo sapiens NEDD1 gamma-tubulin ring complex targeting factor (NEDD1...
PREDICTED: Homo sapiens NEDD1 gamma-tubulin ring complex targeting factor (NEDD1), transcript variant X6, mRNA
gi|2462529959|ref|XM_054371086.1|

Nucleotide
pho843 inorganic phosphate transporter [Schizosaccharomyces pombe]
pho843 inorganic phosphate transporter [Schizosaccharomyces pombe]
Gene ID:2538980

Gene
dbl1 protein Dbl1 [Schizosaccharomyces pombe]
dbl1 protein Dbl1 [Schizosaccharomyces pombe]
Gene ID:2539210

Gene

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
SCV000609438	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)	Likely benign (Jun 22, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000609438

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)

Likely benign
(Jun 22, 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, SCV000609438.5

#	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

ClinVar

Relating variation to medicine