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NM_001168.3(BIRC5):c.222-639G>A AND EBV-positive nodal T- and NK-cell lymphoma

Germline classification:
Likely benign (1 submission)
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:
RCV004557930.1

Allele description [Variation Report for NM_001168.3(BIRC5):c.222-639G>A]

NM_001168.3(BIRC5):c.222-639G>A

Gene:
BIRC5:baculoviral IAP repeat containing 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_001168.3(BIRC5):c.222-639G>A
HGVS:
  • NC_000017.11:g.78216025G>A
  • NG_029069.1:g.6830G>A
  • NM_001012270.2:c.221+1236G>A
  • NM_001012271.2:c.281G>A
  • NM_001168.3:c.222-639G>AMANE SELECT
  • NP_001012271.1:p.Arg94Gln
  • NC_000017.10:g.76212106G>A
Protein change:
R94Q
Molecular consequence:
  • NM_001012270.2:c.221+1236G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001168.3:c.222-639G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001012271.2:c.281G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
EBV-positive nodal T- and NK-cell lymphoma
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004218202Department of Clinical Pathology, School of Medicine, Fujita Health University
no assertion criteria provided
Likely benignunknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Department of Clinical Pathology, School of Medicine, Fujita Health University, SCV004218202.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 9, 2024