NM_000075.4(CDK4):c.229G>A (p.Val77Ile) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 23, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000160398.3

Allele description [Variation Report for NM_000075.4(CDK4):c.229G>A (p.Val77Ile)]

NM_000075.4(CDK4):c.229G>A (p.Val77Ile)

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.229G>A (p.Val77Ile)
Other names:
p.V77I:GTC>ATC
HGVS:
  • NC_000012.12:g.57751332C>T
  • NG_007484.2:g.6050G>A
  • NM_000075.4:c.229G>AMANE SELECT
  • NP_000066.1:p.Val77Ile
  • LRG_490t1:c.229G>A
  • LRG_490:g.6050G>A
  • NC_000012.11:g.58145115C>T
  • NM_000075.2:c.229G>A
  • NM_000075.3:c.229G>A
Protein change:
V77I
Links:
dbSNP: rs730881670
NCBI 1000 Genomes Browser:
rs730881670
Molecular consequence:
  • NM_000075.4:c.229G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000210929GeneDxcriteria provided, single submitter
Uncertain significance
(Aug 23, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000210929.13

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

Description

This variant is denoted CDK4 c.229G>A at the cDNA level, p.Val77Ile (V77I) at the protein level, and results in the change of a Valine to an Isoleucine (GTC>ATC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. CDK4 Val77Ile was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Valine and Isoleucine share similar properties, this is considered a conservative amino acid substitution. CDK4 Val77Ile occurs at a position that is conserved across species and is located within the protein kinase domain (UniProt). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether CDK4 Val77Ile is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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