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NM_001791.4(CDC42):c.101C>A (p.Pro34Gln) AND CDC42-related condition

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 26, 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:
RCV003416188.4

Allele description

NM_001791.4(CDC42):c.101C>A (p.Pro34Gln)

Gene:
CDC42:cell division cycle 42 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.12
Genomic location:
Preferred name:
NM_001791.4(CDC42):c.101C>A (p.Pro34Gln)
HGVS:
  • NC_000001.11:g.22078579C>A
  • NG_047042.2:g.30871C>A
  • NM_001039802.2:c.101C>A
  • NM_001791.4:c.101C>AMANE SELECT
  • NM_044472.3:c.101C>A
  • NP_001034891.1:p.Pro34Gln
  • NP_001782.1:p.Pro34Gln
  • NP_426359.1:p.Pro34Gln
  • LRG_1326t1:c.101C>A
  • LRG_1326t2:c.101C>A
  • LRG_1326p1:p.Pro34Gln
  • LRG_1326p2:p.Pro34Gln
  • NC_000001.10:g.22405072C>A
  • NG_047042.1:g.30953C>A
  • NM_001791.3:c.101C>A
Protein change:
P34Q
Links:
dbSNP: rs1645575465
NCBI 1000 Genomes Browser:
rs1645575465
Molecular consequence:
  • NM_001039802.2:c.101C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001791.4:c.101C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_044472.3:c.101C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CDC42-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004109688PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jun 26, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004109688.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The CDC42 c.101C>A variant is predicted to result in the amino acid substitution p.Pro34Gln. his variant has been reported as de novo in two patients with pancytopenia (Patient 17-5428 in Table S1 in Monies. 2019. PubMed ID: 31130284; Asiri et al. 2021. PubMed ID: 33672558). Functional analysis of skin fibroblasts isolated from the patient reported in Asiri et al. showed reduced growth and motility (Asiri et al. 2021. PubMed ID: 33672558). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic.

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

Last Updated: May 12, 2024