NM_000075.4(CDK4):c.423G>A (p.Leu141=) AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely benign (Last evaluated: Aug 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000561325.1

Allele description [Variation Report for NM_000075.4(CDK4):c.423G>A (p.Leu141=)]

NM_000075.4(CDK4):c.423G>A (p.Leu141=)

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.423G>A (p.Leu141=)
HGVS:
  • NC_000012.12:g.57751022C>T
  • NG_007484.2:g.6360G>A
  • NM_000075.4:c.423G>AMANE SELECT
  • NP_000066.1:p.Leu141=
  • LRG_490:g.6360G>A
  • NC_000012.11:g.58144805C>T
  • NM_000075.3:c.423G>A
Links:
dbSNP: rs760242081
NCBI 1000 Genomes Browser:
rs760242081
Molecular consequence:
  • NM_000075.4:c.423G>A - 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
SCV000669099Ambry Geneticscriteria provided, single submitter
Likely benign
(Aug 28, 2017)
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, SCV000669099.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Synonymous alterations with insufficient evidence to classify as benign

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

Last Updated: Jun 14, 2021

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