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Single allele AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 16, 2021
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:
RCV002266770.1

Allele description [Variation Report for Single allele]

Genes:
  • LOC129938327:ATAC-STARR-seq lymphoblastoid active region 21121 [Gene]
  • LOC129938328:ATAC-STARR-seq lymphoblastoid silent region 15094 [Gene]
  • LOC126806938:BRD4-independent group 4 enhancer GRCh37_chr3:197639502-197640701 [Gene]
  • IQCG:IQ motif containing G [Gene - OMIM - HGNC]
  • LOC126806937:MED14-independent group 3 enhancer GRCh37_chr3:197581553-197582752 [Gene]
  • LOC107133517:NUP98-IQCG recombination region [Gene]
  • LRCH3:leucine rich repeats and calponin homology domain containing 3 [Gene - HGNC]
Variant type:
Duplication
Cytogenetic location:
3q29
Genomic location:
Chr3: 197836848 - 197925758 (on Assembly GRCh38)
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002548867New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Jul 16, 2021) 		inheritedclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002548867.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 14, 2023