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NM_000075.4(CDK4):c.248C>A (p.Thr83Asn)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Aug 17, 2018
Accession:
VCV000655862.1
Variation ID:
655862
Description:
single nucleotide variant
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NM_000075.4(CDK4):c.248C>A (p.Thr83Asn)

Allele ID
641340
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q14.1
Genomic location
12: 57751313 (GRCh38) GRCh38 UCSC
12: 58145096 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_490:g.6069C>A
NC_000012.11:g.58145096G>T
NC_000012.12:g.57751313G>T
... more HGVS
Protein change
T83N
Other names
-
Canonical SPDI
NC_000012.12:57751312:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1595110800
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 17, 2018 RCV000812129.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CDK4 No evidence available No evidence available GRCh38
GRCh37
341 563

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 17, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cutaneous melanoma
Allele origin: germline
Invitae
Accession: SCV000952433.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces threonine with asparagine at codon 83 of the CDK4 protein (p.Thr83Asn). The threonine residue is moderately conserved and there is a … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1595110800...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021