NM_000075.4(CDK4):c.219-5G>C AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Sep 14, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000568666.2

Allele description [Variation Report for NM_000075.4(CDK4):c.219-5G>C]

NM_000075.4(CDK4):c.219-5G>C

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.219-5G>C
HGVS:
  • NC_000012.12:g.57751347C>G
  • NG_007484.2:g.6035G>C
  • NM_000075.4:c.219-5G>CMANE SELECT
  • LRG_490:g.6035G>C
  • NC_000012.11:g.58145130C>G
  • NM_000075.3:c.219-5G>C
Links:
dbSNP: rs1286893141
NCBI 1000 Genomes Browser:
rs1286893141
Molecular consequence:
  • NM_000075.4:c.219-5G>C - intron variant - [Sequence Ontology: SO:0001627]
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
SCV000669152Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Sep 14, 2020)
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, SCV000669152.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.219-5G>C intronic variant results from a G to C substitution 5 nucleotides upstream from coding exon 2 in the CDK4 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. 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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