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NM_006035.4(CDC42BPB):c.1534G>C (p.Glu512Gln) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 13, 2020
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:
RCV001266866.4

Allele description [Variation Report for NM_006035.4(CDC42BPB):c.1534G>C (p.Glu512Gln)]

NM_006035.4(CDC42BPB):c.1534G>C (p.Glu512Gln)

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.1534G>C (p.Glu512Gln)
HGVS:
  • NC_000014.9:g.102974123C>G
  • NM_006035.4:c.1534G>CMANE SELECT
  • NP_006026.3:p.Glu512Gln
  • NC_000014.8:g.103440460C>G
  • NM_006035.3:c.1534G>C
Protein change:
E512Q
Links:
dbSNP: rs1389878014
NCBI 1000 Genomes Browser:
rs1389878014
Molecular consequence:
  • NM_006035.4:c.1534G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001445046Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 13, 2020) 		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 Ambry Genetics, SCV001445046.4

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

Description

The alteration results in an amino acid change:_x000D_ _x000D_ The c.1534G>C (p.E512Q) alteration is located in coding exon 12 of the CDC42BPB gene. This alteration results from a G to C substitution at nucleotide position 1534, causing the glutamic acid (E) at amino acid position 512 to be replaced by a glutamine (Q). The alteration is rare in population databases:_x000D_ _x000D_ Based on data from the Genome Aggregation Database (gnomAD), the CDC42BPB c.1534G>C alteration was observed in 0.0004% (1/250770) of total alleles studied. The altered amino acid is not conserved throughout evolution:_x000D_ _x000D_ The p.E512 amino acid is not conserved in available vertebrate species. The alteration is predicted tolerated by in silico modeling:_x000D_ _x000D_ The p.E512Q alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024