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NC_000012.12:g.123628460_123712468dup AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 29, 2020
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:
RCV001542282.1

Allele description [Variation Report for NC_000012.12:g.123628460_123712468dup]

NC_000012.12:g.123628460_123712468dup

Genes:
  • LOC130009115:ATAC-STARR-seq lymphoblastoid active region 7273 [Gene]
  • LOC130009116:ATAC-STARR-seq lymphoblastoid active region 7274 [Gene]
  • LOC130009117:ATAC-STARR-seq lymphoblastoid silent region 5049 [Gene]
  • ATP6V0A2:ATPase H+ transporting V0 subunit a2 [Gene - OMIM - HGNC]
  • LOC126861665:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124143885-124145084 [Gene]
  • EIF2B1:eukaryotic translation initiation factor 2B subunit alpha [Gene - OMIM - HGNC]
  • GTF2H3:general transcription factor IIH subunit 3 [Gene - OMIM - HGNC]
  • TCTN2:tectonic family member 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12q24.31
Genomic location:
Chr12: 123628460 - 123712468 (on Assembly GRCh38)
Preferred name:
NC_000012.12:g.123628460_123712468dup
HGVS:
NC_000012.12:g.123628460_123712468dup
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
SCV001760965New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(May 29, 2020) 		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, SCV001760965.2

#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