NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Feb 18, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000235428.4

Allele description [Variation Report for NM_000075.4(CDK4):c.122A>G (p.Asn41Ser)]

NM_000075.4(CDK4):c.122A>G (p.Asn41Ser)

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.122A>G (p.Asn41Ser)
HGVS:
  • NC_000012.12:g.57751596T>C
  • NG_007484.2:g.5786A>G
  • NM_000075.4:c.122A>GMANE SELECT
  • NP_000066.1:p.Asn41Ser
  • LRG_490t1:c.122A>G
  • LRG_490:g.5786A>G
  • NC_000012.11:g.58145379T>C
  • NM_000075.2:c.122A>G
  • NM_000075.3:c.122A>G
  • P11802:p.Asn41Ser
Protein change:
N41S
Links:
UniProtKB: P11802#VAR_021152; dbSNP: rs144890720
NCBI 1000 Genomes Browser:
rs144890720
Molecular consequence:
  • NM_000075.4:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000601002Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Uncertain significance
(Feb 18, 2017)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Complete scanning of the CDK4 gene by denaturing gradient gel electrophoresis: a novel missense mutation but low overall frequency of mutations in sporadic metastatic malignant melanoma.

Guldberg P, Kirkin AF, Gronbaek K, thor Straten P, Ahrenkiel V, Zeuthen J.

Int J Cancer. 1997 Sep 4;72(5):780-3.

PubMed [citation]
PMID:
9311594

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

Yurgelun MB, Allen B, Kaldate RR, Bowles KR, Judkins T, Kaushik P, Roa BB, Wenstrup RJ, Hartman AR, Syngal S.

Gastroenterology. 2015 Sep;149(3):604-13.e20. doi: 10.1053/j.gastro.2015.05.006. Epub 2015 May 14.

PubMed [citation]
PMID:
25980754
PMCID:
PMC4550537
See all PubMed Citations (5)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000601002.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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