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NM_001099402.2(CCNK):c.1121G>A (p.Arg374Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 2, 2022
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:
RCV004090413.1

Allele description [Variation Report for NM_001099402.2(CCNK):c.1121G>A (p.Arg374Gln)]

NM_001099402.2(CCNK):c.1121G>A (p.Arg374Gln)

Genes:
CCDC85C:coiled-coil domain containing 85C [Gene - HGNC]
CCNK:cyclin K [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.2
Genomic location:
Preferred name:
NM_001099402.2(CCNK):c.1121G>A (p.Arg374Gln)
HGVS:
  • NC_000014.9:g.99510160G>A
  • NM_001099402.2:c.1121G>AMANE SELECT
  • NM_001144995.2:c.*5086C>TMANE SELECT
  • NP_001092872.1:p.Arg374Gln
  • NC_000014.8:g.99976497G>A
  • NM_001099402.1:c.1121G>A
Protein change:
R374Q
Molecular consequence:
  • NM_001144995.2:c.*5086C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001099402.2:c.1121G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003555321Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 2, 2022) 		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, SCV003555321.2

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

Description

The c.1121G>A (p.R374Q) alteration is located in exon 11 (coding exon 10) of the CCNK gene. This alteration results from a G to A substitution at nucleotide position 1121, causing the arginine (R) at amino acid position 374 to be replaced by a glutamine (Q). 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: Nov 10, 2024