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NM_006035.4(CDC42BPB):c.5083dup (p.His1695fs) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 8, 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:
RCV002302529.1

Allele description [Variation Report for NM_006035.4(CDC42BPB):c.5083dup (p.His1695fs)]

NM_006035.4(CDC42BPB):c.5083dup (p.His1695fs)

Gene:
CDC42BPB:CDC42 binding protein kinase beta [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
14q32.32
Genomic location:
Preferred name:
NM_006035.4(CDC42BPB):c.5083dup (p.His1695fs)
HGVS:
  • NC_000014.9:g.102933770dup
  • NG_008276.2:g.16115dup
  • NM_001411054.1:c.5000dup
  • NM_006035.4:c.5083dupMANE SELECT
  • NP_001397983.1:p.His1669Profs
  • NP_006026.3:p.His1695fs
  • LRG_642:g.16115dup
  • NC_000014.8:g.103400107dup
  • NM_006035.3:c.5083dupC
Protein change:
H1695fs
Molecular consequence:
  • NM_001411054.1:c.5000dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_006035.4:c.5083dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002598831Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Sep 8, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002598831.1

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

Description

Variant summary: CDC42BPB c.5083dupC (p.His1695ProfsX16) results in a premature termination codon in the last exon of the protein, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay. Truncations downstream of this position have not been reported in HGMD or ClinVar. The variant allele was found at a frequency of 1.6e-05 in 127116 control chromosomes. To our knowledge, no occurrence of c.5083dupC in individuals affected with Chilton-Okur Neurodevelopmental Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS.

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

Last Updated: Nov 13, 2022