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NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 23, 2019
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:
RCV001266021.3

Allele description [Variation Report for NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys)]

NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys)

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.191A>G (p.Tyr64Cys)
HGVS:
  • NC_000001.11:g.22086451A>G
  • NG_047042.2:g.38743A>G
  • NM_001039802.2:c.191A>G
  • NM_001791.4:c.191A>GMANE SELECT
  • NM_044472.3:c.191A>G
  • NP_001034891.1:p.Tyr64Cys
  • NP_001782.1:p.Tyr64Cys
  • NP_426359.1:p.Tyr64Cys
  • LRG_1326t1:c.191A>G
  • LRG_1326t2:c.191A>G
  • LRG_1326p1:p.Tyr64Cys
  • LRG_1326p2:p.Tyr64Cys
  • NC_000001.10:g.22412944A>G
  • NG_047042.1:g.38825A>G
  • NM_001039802.1:c.191A>G
  • NM_001791.3:c.191A>G
  • P60953:p.Tyr64Cys
Protein change:
Y64C; TYR64CYS
Links:
UniProtKB: P60953#VAR_076337; OMIM: 116952.0001; dbSNP: rs864309721
NCBI 1000 Genomes Browser:
rs864309721
Molecular consequence:
  • NM_001039802.2:c.191A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001791.4:c.191A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_044472.3:c.191A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001444193Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Pathogenic
(Jan 23, 2019) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing
Hispanic/Mexican/Spanishgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay.

Takenouchi T, Kosaki R, Niizuma T, Hata K, Kosaki K.

Am J Med Genet A. 2015 Nov;167A(11):2822-5. doi: 10.1002/ajmg.a.37275. Epub 2015 Aug 6.

PubMed [citation]
PMID:
26386261

Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia.

Takenouchi T, Okamoto N, Ida S, Uehara T, Kosaki K.

Am J Med Genet A. 2016 Apr;170A(4):852-5. doi: 10.1002/ajmg.a.37526. Epub 2015 Dec 28.

PubMed [citation]
PMID:
26708094
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV001444193.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)
2Hispanic/Mexican/Spanish1not providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided

Last Updated: May 12, 2024