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NM_017412.4(FZD3):c.1616dup (p.Asp539fs) AND Congenital cerebellar hypoplasia

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001257989.1

Allele description [Variation Report for NM_017412.4(FZD3):c.1616dup (p.Asp539fs)]

NM_017412.4(FZD3):c.1616dup (p.Asp539fs)

Gene:
FZD3:frizzled class receptor 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
8p21.1
Genomic location:
Preferred name:
NM_017412.4(FZD3):c.1616dup (p.Asp539fs)
HGVS:
  • NC_000008.11:g.28555800dup
  • NG_029723.1:g.66596dup
  • NM_017412.4:c.1616dupMANE SELECT
  • NM_145866.2:c.1616dup
  • NP_059108.1:p.Asp539fs
  • NP_665873.1:p.Asp539fs
  • LRG_859t1:c.1616dup
  • LRG_859:g.66596dup
  • LRG_859p1:p.Asp539fs
  • NC_000008.10:g.28413317dup
  • NM_017412.3:c.1616dup
Protein change:
D539fs
Links:
dbSNP: rs1563406024
NCBI 1000 Genomes Browser:
rs1563406024
Molecular consequence:
  • NM_017412.4:c.1616dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_145866.2:c.1616dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Congenital cerebellar hypoplasia (CHEGDD)
Synonyms:
Isolated cerebellar hypoplasia/agenesis; Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay
Identifiers:
MONDO: MONDO:0008939; MedGen: C5231391; Orphanet: 2246; OMIM: 213000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001434802University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Likely pathogenicinheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Redefining the Etiologic Landscape of Cerebellar Malformations.

Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, et al.

Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29.

PubMed [citation]
PMID:
31474318
PMCID:
PMC6731369

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001434802.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 17, 2023