U.S. flag

An official website of the United States government

GRCh37/hg19 2p25.2-25.1(chr2:4500550-7378329)x1 AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000509127.1

Allele description [Variation Report for GRCh37/hg19 2p25.2-25.1(chr2:4500550-7378329)x1]

GRCh37/hg19 2p25.2-25.1(chr2:4500550-7378329)x1

Genes:
SOX11:SRY-box transcription factor 11 [Gene - OMIM - HGNC]
CMPK2:cytidine/uridine monophosphate kinase 2 [Gene - OMIM - HGNC]
RSAD2:radical S-adenosyl methionine domain containing 2 [Gene - OMIM - HGNC]
RNF144A:ring finger protein 144A [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
2p25.2-25.1
Genomic location:
Chr2: 4500550 - 7378329 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 2p25.2-25.1(chr2:4500550-7378329)x1
HGVS:
NC_000002.11:g.(?_4500550)_(7378329_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000607247GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000607247.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022