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NM_000075.4(CDK4):c.219-5G>C

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 7, 2020
Accession:
VCV000483317.4
Variation ID:
483317
Description:
single nucleotide variant
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NM_000075.4(CDK4):c.219-5G>C

Allele ID
476807
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q14.1
Genomic location
12: 57751347 (GRCh38) GRCh38 UCSC
12: 58145130 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_490:g.6035G>C
NC_000012.11:g.58145130C>G
NC_000012.12:g.57751347C>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:57751346:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA605706355
dbSNP: rs1286893141
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 Sep 14, 2020 RCV000568666.2
Likely benign 1 criteria provided, single submitter Nov 7, 2020 RCV001439244.1
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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
(Sep 14, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000669152.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The c.219-5G>C intronic variant results from a G to C substitution 5 nucleotides upstream from coding exon 2 in the CDK4 gene. This nucleotide position … (more)
Likely benign
(Nov 07, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary melanoma
Allele origin: germline
Invitae
Accession: SCV001642129.1
Submitted: (Jan 07, 2021)
Evidence details

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 rs1286893141...

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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