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GRCh37/hg19 2p25.3(chr2:15672-657652)x1 AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 19, 2012
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:
RCV000752803.2

Allele description

GRCh37/hg19 2p25.3(chr2:15672-657652)x1

Genes:
ALKAL2:ALK and LTK ligand 2 [Gene - OMIM - HGNC]
SH3YL1:SH3 and SYLF domain containing 1 [Gene - OMIM - HGNC]
ACP1:acid phosphatase 1 [Gene - OMIM - HGNC]
FAM110C:family with sequence similarity 110 member C [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
2p25.3
Genomic location:
Chr2: 15672 - 657652 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 2p25.3(chr2:15672-657652)x1
HGVS:
NC_000002.11:g.(?_15672)_(657652_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000881139Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
no assertion criteria provided
Likely benign
(Dec 19, 2012) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center, SCV000881139.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing
(GTR000295241.2)		not provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providedbloodnot provided
(GTR000295241.2)		not providednot providednot providednot provided

Last Updated: Mar 4, 2023