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NM_014008.5(CCDC22):c.427G>A (p.Val143Ile) AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Sep 1, 2024
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:
RCV002051956.16

Allele description [Variation Report for NM_014008.5(CCDC22):c.427G>A (p.Val143Ile)]

NM_014008.5(CCDC22):c.427G>A (p.Val143Ile)

Gene:
CCDC22:CCC complex scaffolding subunit CCDC22 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_014008.5(CCDC22):c.427G>A (p.Val143Ile)
HGVS:
  • NC_000023.11:g.49242951G>A
  • NG_021311.2:g.12487G>A
  • NM_014008.5:c.427G>AMANE SELECT
  • NP_054727.1:p.Val143Ile
  • NC_000023.10:g.49099417G>A
Protein change:
V143I
Links:
dbSNP: rs145976849
NCBI 1000 Genomes Browser:
rs145976849
Molecular consequence:
  • NM_014008.5:c.427G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002099773Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics
no assertion criteria provided
Uncertain significancematernalresearch

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

SCV003917787CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely benign
(Sep 1, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing
not providedmaternalyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Novel genes bearing mutations in rare cases of early-onset ataxia with cerebellar hypoplasia.

Protasova MS, Gusev FE, Andreeva TV, Klyushnikov SA, Illarioshkin SN, Rogaev EI.

Eur J Hum Genet. 2022 Jun;30(6):703-711. doi: 10.1038/s41431-022-01088-9. Epub 2022 Mar 29.

PubMed [citation]
PMID:
35351988
PMCID:
PMC9178031

Details of each submission

From Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics, SCV002099773.1

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

From CeGaT Center for Human Genetics Tuebingen, SCV003917787.15

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided

Description

CCDC22: BP4, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Mar 22, 2025