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NM_006035.4(CDC42BPB):c.4886G>T (p.Arg1629Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 25, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003225554.1

Allele description [Variation Report for NM_006035.4(CDC42BPB):c.4886G>T (p.Arg1629Leu)]

NM_006035.4(CDC42BPB):c.4886G>T (p.Arg1629Leu)

Gene:
CDC42BPB:CDC42 binding protein kinase beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.32
Genomic location:
Preferred name:
NM_006035.4(CDC42BPB):c.4886G>T (p.Arg1629Leu)
HGVS:
  • NC_000014.9:g.102938353C>A
  • NM_001411054.1:c.4808G>T
  • NM_006035.4:c.4886G>TMANE SELECT
  • NP_001397983.1:p.Arg1603Leu
  • NP_006026.3:p.Arg1629Leu
  • NC_000014.8:g.103404690C>A
  • NM_006035.3:c.4886G>T
Protein change:
R1603L
Molecular consequence:
  • NM_001411054.1:c.4808G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006035.4:c.4886G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003921632GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Oct 25, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV003921632.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: May 6, 2023