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GRCh37/hg19 12p11.23(chr12:27285092-27796511)x1 AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 17, 2017
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:
RCV000683440.1

Allele description [Variation Report for GRCh37/hg19 12p11.23(chr12:27285092-27796511)x1]

GRCh37/hg19 12p11.23(chr12:27285092-27796511)x1

Genes:
PPFIBP1:PPFIA binding protein 1 [Gene - OMIM - HGNC]
ARNTL2:aryl hydrocarbon receptor nuclear translocator like 2 [Gene - OMIM - HGNC]
STK38L:serine/threonine kinase 38 like [Gene - OMIM - HGNC]
SMCO2:single-pass membrane protein with coiled-coil domains 2 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
12p11.23
Genomic location:
Chr12: 27285092 - 27796511 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 12p11.23(chr12:27285092-27796511)x1
HGVS:
NC_000012.11:g.(?_27285092)_(27796511_?)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
SCV000810948Quest Diagnostics Nichols Institute San Juan Capistrano
no assertion criteria provided
Likely benign
(Aug 17, 2017) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000810948.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022