NM_000075.4(CDK4):c.447A>G (p.Thr149=) AND Cutaneous malignant melanoma 3

Clinical significance:Benign (Last evaluated: Jun 13, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000412354.1

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]

Condition(s)

Name:
Cutaneous malignant melanoma 3 (CMM3)
Synonyms:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
Identifiers:
MONDO: MONDO:0012183; MedGen: C1836892; Orphanet: 618; OMIM: 609048

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000488604Counsylcriteria provided, single submitter
Benign
(Jun 13, 2016)
unknownclinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000488604.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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