NM_000075.4(CDK4):c.343G>C (p.Glu115Gln) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: May 23, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001020313.1

Allele description [Variation Report for NM_000075.4(CDK4):c.343G>C (p.Glu115Gln)]

NM_000075.4(CDK4):c.343G>C (p.Glu115Gln)

Gene:
CDK4:cyclin dependent kinase 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q14.1
Genomic location:
Preferred name:
NM_000075.4(CDK4):c.343G>C (p.Glu115Gln)
HGVS:
  • NC_000012.12:g.57751218C>G
  • NG_007484.2:g.6164G>C
  • NM_000075.4:c.343G>CMANE SELECT
  • NP_000066.1:p.Glu115Gln
  • LRG_490:g.6164G>C
  • NC_000012.11:g.58145001C>G
  • NM_000075.3:c.343G>C
Protein change:
E115Q
Links:
dbSNP: rs772938517
NCBI 1000 Genomes Browser:
rs772938517
Molecular consequence:
  • NM_000075.4:c.343G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001181774Ambry Geneticscriteria provided, single submitter
Uncertain significance
(May 23, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001181774.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.E115Q variant (also known as c.343G>C), located in coding exon 2 of the CDK4 gene, results from a G to C substitution at nucleotide position 343. The glutamic acid at codon 115 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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