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NM_000075.4(CDK4):c.370T>C (p.Phe124Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 29, 2019
Accession:
VCV000852830.2
Variation ID:
852830
Description:
single nucleotide variant
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NM_000075.4(CDK4):c.370T>C (p.Phe124Leu)

Allele ID
840170
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q14.1
Genomic location
12: 58144858 (GRCh37) GRCh37 UCSC
12: 57751075 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_490:g.6307T>C
NC_000012.11:g.58144858A>G
NC_000012.12:g.57751075A>G
... more HGVS
Protein change
F124L
Other names
-
Canonical SPDI
NC_000012.12:57751074:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Mar 29, 2019 RCV001057529.1
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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
(Mar 29, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary melanoma
Allele origin: germline
Invitae
Accession: SCV001222027.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces phenylalanine with leucine at codon 124 of the CDK4 protein (p.Phe124Leu). The phenylalanine residue is highly 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.

Record last updated Oct 08, 2021