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NM_001791.4(CDC42):c.62T>C (p.Ile21Thr) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 27, 2016
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:
RCV000481008.1

Allele description [Variation Report for NM_001791.4(CDC42):c.62T>C (p.Ile21Thr)]

NM_001791.4(CDC42):c.62T>C (p.Ile21Thr)

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.62T>C (p.Ile21Thr)
HGVS:
  • NC_000001.11:g.22078540T>C
  • NG_047042.2:g.30832T>C
  • NM_001039802.2:c.62T>C
  • NM_001791.4:c.62T>CMANE SELECT
  • NM_044472.3:c.62T>C
  • NP_001034891.1:p.Ile21Thr
  • NP_001782.1:p.Ile21Thr
  • NP_426359.1:p.Ile21Thr
  • LRG_1326t1:c.62T>C
  • LRG_1326t2:c.62T>C
  • LRG_1326p1:p.Ile21Thr
  • LRG_1326p2:p.Ile21Thr
  • NC_000001.10:g.22405033T>C
  • NG_047042.1:g.30914T>C
  • NM_001791.3:c.62T>C
Protein change:
I21T; ILE21THR
Links:
OMIM: 116952.0005; dbSNP: rs1064795845
NCBI 1000 Genomes Browser:
rs1064795845
Molecular consequence:
  • NM_001039802.2:c.62T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001791.4:c.62T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_044472.3:c.62T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000572034GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Oct 27, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000572034.4

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

Description

The I21T variant in the CDC42 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The I21T variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The I21T variant is a non-conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The I21T variant is a strong candidate for a pathogenic variant which may be related to the clinical features in this individual. However, the possibility it may be a rare benign variant cannot be excluded.

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

Last Updated: May 27, 2023