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GRCh38/hg38 9q21.2(chr9:77531690-78300187)x1 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 30, 2011
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:
RCV000140595.3

Allele description [Variation Report for GRCh38/hg38 9q21.2(chr9:77531690-78300187)x1]

GRCh38/hg38 9q21.2(chr9:77531690-78300187)x1

Genes:
  • LOC130001921:ATAC-STARR-seq lymphoblastoid active region 28484 [Gene]
  • LOC130001922:ATAC-STARR-seq lymphoblastoid active region 28485 [Gene]
  • LOC130001923:ATAC-STARR-seq lymphoblastoid active region 28486 [Gene]
  • LOC130001924:ATAC-STARR-seq lymphoblastoid silent region 19967 [Gene]
  • GNA14:G protein subunit alpha 14 [Gene - OMIM - HGNC]
  • GNAQ:G protein subunit alpha q [Gene - OMIM - HGNC]
  • LOC129390089:MPRA-validated peak7272 silencer [Gene]
  • LOC129390090:MPRA-validated peak7274 silencer [Gene]
  • LOC113839561:Sharpr-MPRA regulatory region 6496 [Gene]
  • LOC113839562:Sharpr-MPRA regulatory region 6688 [Gene]
  • CEP78:centrosomal protein 78 [Gene - OMIM - HGNC]
  • PSAT1:phosphoserine aminotransferase 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
9q21.2
Genomic location:
Preferred name:
GRCh38/hg38 9q21.2(chr9:77531690-78300187)x1
HGVS:
  • NC_000009.12:g.(?_77531690)_(78300187_?)del
  • NC_000009.10:g.(?_79336426)_(80104923_?)del
  • NC_000009.11:g.(?_80146606)_(80915103_?)del
Links:
dbVar: nssv1609944; dbVar: nsv931802
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000181301GeneDx
no assertion criteria provided
Likely pathogenic
(Apr 30, 2011) 		not providedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000181301.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023