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NM_001163809.2(WDR81):c.2167G>A (p.Glu723Lys) AND Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2

Germline classification:
Likely benign (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:
RCV001255747.2

Allele description [Variation Report for NM_001163809.2(WDR81):c.2167G>A (p.Glu723Lys)]

NM_001163809.2(WDR81):c.2167G>A (p.Glu723Lys)

Gene:
WDR81:WD repeat domain 81 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.3
Genomic location:
Preferred name:
NM_001163809.2(WDR81):c.2167G>A (p.Glu723Lys)
HGVS:
  • NC_000017.11:g.1727126G>A
  • NG_032811.1:g.15604G>A
  • NM_001163673.2:c.59-3254G>A
  • NM_001163809.2:c.2167G>AMANE SELECT
  • NM_001163811.2:c.-15+2340G>A
  • NM_152348.4:c.-123-864G>A
  • NP_001157281.1:p.Glu723Lys
  • NC_000017.10:g.1630420G>A
  • NM_001163809.1:c.2167G>A
Protein change:
E723K
Links:
Molecular consequence:
  • NM_001163673.2:c.59-3254G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001163811.2:c.-15+2340G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_152348.4:c.-123-864G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001163809.2:c.2167G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 (CAMRQ2)
Synonyms:
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 2; CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 2
Identifiers:
MONDO: MONDO:0012430; MedGen: C2750234; Orphanet: 1766; OMIM: 610185

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001432324Service de Génétique Moléculaire, Hôpital Robert Debré
no assertion criteria provided
Likely benignunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot provided1not providednot providednot providedclinical testing

Details of each submission

From Service de Génétique Moléculaire, Hôpital Robert Debré, SCV001432324.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot provided1not provided

Last Updated: Jan 13, 2025