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GRCh37/hg19 14q11.2(chr14:21908729-22011463) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 1, 2022
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:
RCV002053090.3

Allele description [Variation Report for GRCh37/hg19 14q11.2(chr14:21908729-22011463)]

GRCh37/hg19 14q11.2(chr14:21908729-22011463)

Genes:
RAB2B:RAB2B, member RAS oncogene family [Gene - OMIM - HGNC]
TOX4:TOX high mobility group box family member 4 [Gene - OMIM - HGNC]
METTL3:methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit [Gene - OMIM - HGNC]
SALL2:spalt like transcription factor 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
14q11.2
Genomic location:
Chr14: 21908729 - 22011463 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 14q11.2(chr14:21908729-22011463)
HGVS:
NC_000014.8:g.(?_21908729)_(22011463_?)del
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002319524ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
criteria provided, single submitter

(ARUP Cytogenomic Constitutional CNV Assertion Criteria)		Uncertain significance
(Mar 1, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV002319524.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 15, 2022