NM_000075.4(CDK4):c.447A>G (p.Thr149=) AND Hereditary cancer-predisposing syndrome

Clinical significance:Benign (Last evaluated: Jan 7, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000163324.1

Allele description [Variation Report for NM_000075.4(CDK4):c.447A>G (p.Thr149=)]

NM_000075.4(CDK4):c.447A>G (p.Thr149=)

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.447A>G (p.Thr149=)
HGVS:
  • NC_000012.12:g.57750998T>C
  • NG_007484.2:g.6384A>G
  • NM_000075.4:c.447A>GMANE SELECT
  • NP_000066.1:p.Thr149=
  • LRG_490t1:c.447A>G
  • LRG_490:g.6384A>G
  • NC_000012.11:g.58144781T>C
  • NM_000075.2:c.447A>G
  • NM_000075.3:c.447A>G
  • p.T149T
  • p.Thr149Thr
Links:
dbSNP: rs2069501
NCBI 1000 Genomes Browser:
rs2069501
Molecular consequence:
  • NM_000075.4:c.447A>G - synonymous variant - [Sequence Ontology: SO:0001819]
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
SCV000213852Ambry Geneticscriteria provided, single submitter
Benign
(Jan 7, 2015)
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, SCV000213852.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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

Last Updated: Sep 29, 2021

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