GRCh37/hg19 4p14(chr4:39245868-39700010)x3 AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 1, 2023
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:: RCV003223174.2

Allele description

GRCh37/hg19 4p14(chr4:39245868-39700010)x3

Genes:

UGDH:UDP-glucose 6-dehydrogenase [Gene - OMIM - HGNC]
WDR19:WD repeat domain 19 [Gene - OMIM - HGNC]
KLB:klotho beta [Gene - OMIM - HGNC]
LIAS:lipoic acid synthetase [Gene - OMIM - HGNC]
RFC1:replication factor C subunit 1 [Gene - OMIM - HGNC]
RPL9:ribosomal protein L9 [Gene - OMIM - HGNC]
SMIM14:small integral membrane protein 14 [Gene - HGNC]
UBE2K:ubiquitin conjugating enzyme E2 K [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

4p14

Genomic location:

Chr4: 39245868 - 39700010 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 4p14(chr4:39245868-39700010)x3

HGVS:

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003916927	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)	Uncertain significance (Mar 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003916927

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)

Uncertain significance
(Mar 1, 2023)

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, SCV003916927.2

#	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: Sep 16, 2023

ClinVar

Relating variation to medicine

GRCh37/hg19 4p14(chr4:39245868-39700010)x3 AND not provided

Allele description

GRCh37/hg19 4p14(chr4:39245868-39700010)x3

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV003916927.2