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NM_130446.4(KLHL6):c.268C>G (p.Leu90Val) AND Monoclonal B-Cell Lymphocytosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 15, 2015
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:
RCV000208542.10

Allele description [Variation Report for NM_130446.4(KLHL6):c.268C>G (p.Leu90Val)]

NM_130446.4(KLHL6):c.268C>G (p.Leu90Val)

Gene:
KLHL6:kelch like family member 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q27.1
Genomic location:
Preferred name:
NM_130446.4(KLHL6):c.268C>G (p.Leu90Val)
HGVS:
  • NC_000003.12:g.183555386G>C
  • NG_053012.1:g.5327C>G
  • NM_130446.4:c.268C>GMANE SELECT
  • NP_569713.2:p.Leu90Val
  • NC_000003.11:g.183273174G>C
  • NM_130446.2:c.268C>G
Protein change:
L90V
Links:
dbSNP: rs548549593
NCBI 1000 Genomes Browser:
rs548549593
Molecular consequence:
  • NM_130446.4:c.268C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Monoclonal B-Cell Lymphocytosis
Identifiers:
MedGen: C2698259

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000258950Karsan Lab, BC Cancer Agency - BCCA Personal OncoGenomics
no assertion criteria provided
Uncertain significance
(Dec 15, 2015) 		somaticresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Karsan Lab, BC Cancer Agency - BCCA Personal OncoGenomics, SCV000258950.1

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

Last Updated: Nov 24, 2024