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NM_147686.4(TRAF3IP2):c.969C>A (p.His323Gln) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV001824782.2

Allele description [Variation Report for NM_147686.4(TRAF3IP2):c.969C>A (p.His323Gln)]

NM_147686.4(TRAF3IP2):c.969C>A (p.His323Gln)

Genes:
TRAF3IP2:TRAF3 interacting protein 2 [Gene - OMIM - HGNC]
TRAF3IP2-AS1:TRAF3IP2 antisense RNA 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q21
Genomic location:
Preferred name:
NM_147686.4(TRAF3IP2):c.969C>A (p.His323Gln)
HGVS:
  • NC_000006.12:g.111580250G>T
  • NG_032030.2:g.30629C>A
  • NM_001164281.3:c.969C>A
  • NM_147200.3:c.996C>A
  • NM_147686.4:c.969C>AMANE SELECT
  • NP_001157753.1:p.His323Gln
  • NP_671733.2:p.His332Gln
  • NP_679211.2:p.His323Gln
  • LRG_1337t1:c.969C>A
  • LRG_1337:g.30629C>A
  • LRG_1337p1:p.His323Gln
  • NC_000006.11:g.111901453G>T
  • NM_147686.3:c.969C>A
Protein change:
H323Q
Links:
dbSNP: rs1043730
NCBI 1000 Genomes Browser:
rs1043730
Molecular consequence:
  • NM_001164281.3:c.969C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_147200.3:c.996C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_147686.4:c.969C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002074816GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV002074816.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024