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NM_006035.4(CDC42BPB):c.4972A>T (p.Met1658Leu) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 14, 2023
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:
RCV003196623.2

Allele description [Variation Report for NM_006035.4(CDC42BPB):c.4972A>T (p.Met1658Leu)]

NM_006035.4(CDC42BPB):c.4972A>T (p.Met1658Leu)

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.4972A>T (p.Met1658Leu)
HGVS:
  • NC_000014.9:g.102938136T>A
  • NM_001411054.1:c.4894A>T
  • NM_006035.4:c.4972A>TMANE SELECT
  • NP_001397983.1:p.Met1632Leu
  • NP_006026.3:p.Met1658Leu
  • NC_000014.8:g.103404473T>A
  • NM_006035.3:c.4972A>T
Protein change:
M1632L
Molecular consequence:
  • NM_001411054.1:c.4894A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006035.4:c.4972A>T - 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
SCV003877997Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Mar 14, 2023) 		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, SCV003877997.2

#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: May 1, 2024