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GRCh38/hg38 7q34(chr7:142620494-142732123)x1 AND See cases

Germline classification:
Benign (1 submission)
Last evaluated:
Nov 30, 2010
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:
RCV000135131.3

Allele description [Variation Report for GRCh38/hg38 7q34(chr7:142620494-142732123)x1]

GRCh38/hg38 7q34(chr7:142620494-142732123)x1

Genes:
  • LOC129389904:MPRA-validated peak6801 silencer [Gene]
  • MTRNR2L6:MT-RNR2 like 6 [Gene - HGNC]
  • LOC123956253:Sharpr-MPRA regulatory region 11750 [Gene]
  • LOC121201615:Sharpr-MPRA regulatory region 1556/5446 [Gene]
  • LOC123956254:Sharpr-MPRA regulatory region 352 [Gene]
  • TRBV20-1:T cell receptor beta variable 20-1 [Gene - HGNC]
  • TRBV24-1:T cell receptor beta variable 24-1 [Gene - HGNC]
  • TRBV25-1:T cell receptor beta variable 25-1 [Gene - HGNC]
  • TRBV27:T cell receptor beta variable 27 [Gene - HGNC]
  • TRBV28:T cell receptor beta variable 28 [Gene - HGNC]
  • TRB:T cell receptor beta locus [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
7q34
Genomic location:
Preferred name:
GRCh38/hg38 7q34(chr7:142620494-142732123)x1
HGVS:
  • NC_000007.14:g.(?_142620494)_(142732123_?)del
  • NC_000007.12:g.(?_142009000)_(142135117_?)del
  • NC_000007.13:g.(?_142328008)_(142455543_?)del
Links:
dbVar: nssv584969; dbVar: nsv498304
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
SCV000174805GeneDx
no assertion criteria provided
Benign
(Nov 30, 2010) 		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, SCV000174805.3

#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