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NM_006035.4(CDC42BPB):c.3806G>A (p.Arg1269Gln) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 19, 2024
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:
RCV004606692.1

Allele description [Variation Report for NM_006035.4(CDC42BPB):c.3806G>A (p.Arg1269Gln)]

NM_006035.4(CDC42BPB):c.3806G>A (p.Arg1269Gln)

Genes:
CDC42BPB:CDC42 binding protein kinase beta [Gene - OMIM - HGNC]
LOC126862066:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:103411482-103412681 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.32
Genomic location:
Preferred name:
NM_006035.4(CDC42BPB):c.3806G>A (p.Arg1269Gln)
HGVS:
  • NC_000014.9:g.102945667C>T
  • NG_086564.1:g.623C>T
  • NM_001411054.1:c.3728G>A
  • NM_006035.4:c.3806G>AMANE SELECT
  • NP_001397983.1:p.Arg1243Gln
  • NP_006026.3:p.Arg1269Gln
  • NC_000014.8:g.103412004C>T
  • NM_006035.3:c.3806G>A
Protein change:
R1243Q
Molecular consequence:
  • NM_001411054.1:c.3728G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006035.4:c.3806G>A - 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
SCV005100393Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Mar 19, 2024) 		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, SCV005100393.1

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Aug 11, 2024