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NM_021147.5(CCNO):c.62A>G (p.Asn21Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 28, 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:
RCV004027958.1

Allele description [Variation Report for NM_021147.5(CCNO):c.62A>G (p.Asn21Ser)]

NM_021147.5(CCNO):c.62A>G (p.Asn21Ser)

Gene:
CCNO:cyclin O [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q11.2
Genomic location:
Preferred name:
NM_021147.5(CCNO):c.62A>G (p.Asn21Ser)
HGVS:
  • NC_000005.10:g.55233462T>C
  • NG_034201.1:g.5256A>G
  • NM_021147.3:c.62A>G
  • NM_021147.5:c.62A>GMANE SELECT
  • NP_066970.3:p.Asn21Ser
  • NC_000005.9:g.54529290T>C
  • NM_021147.4:c.62A>G
  • NR_125346.2:n.147A>G
  • NR_125347.2:n.147A>G
Protein change:
N21S
Links:
dbSNP: rs748757403
NCBI 1000 Genomes Browser:
rs748757403
Molecular consequence:
  • NM_021147.5:c.62A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_125346.2:n.147A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_125347.2:n.147A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004922720Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 28, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004922720.1

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

Description

The c.62A>G (p.N21S) alteration is located in exon 1 (coding exon 1) of the CCNO gene. This alteration results from a A to G substitution at nucleotide position 62, causing the asparagine (N) at amino acid position 21 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024