NM_000075.4(CDK4):c.529dup (p.Thr177fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 2, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002344562.2

Allele description [Variation Report for NM_000075.4(CDK4):c.529dup (p.Thr177fs)]

NM_000075.4(CDK4):c.529dup (p.Thr177fs)

Gene:

CDK4:cyclin dependent kinase 4 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

12q14.1

Genomic location:

Preferred name:

NM_000075.4(CDK4):c.529dup (p.Thr177fs)

HGVS:

NC_000012.12:g.57750759dup
NG_007484.2:g.6623dup
NM_000075.4:c.529dupMANE SELECT
NP_000066.1:p.Thr177Asnfs
NP_000066.1:p.Thr177fs
LRG_490t1:c.529dup
LRG_490:g.6623dup
LRG_490p1:p.Thr177Asnfs
NC_000012.11:g.58144542dup
NM_000075.2:c.529dup
NM_000075.3:c.529dupA

Protein change:

T177fs

Molecular consequence:

NM_000075.4:c.529dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002644846	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 2, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002644846

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 2, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002644846.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.529dupA variant, located in coding exon 4 of the CDK4 gene, results from a duplication of A at nucleotide position 529, causing a translational frameshift with a predicted alternate stop codon (p.T177Nfs*43). This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of CDK4 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 1, 2024

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