NM_004064.5(CDKN1B):c.38T>G (p.Leu13Arg) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 4, 2020
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:: RCV002357143.2

Allele description [Variation Report for NM_004064.5(CDKN1B):c.38T>G (p.Leu13Arg)]

NM_004064.5(CDKN1B):c.38T>G (p.Leu13Arg)

Gene:

CDKN1B:cyclin dependent kinase inhibitor 1B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.1

Genomic location:

Preferred name:

NM_004064.5(CDKN1B):c.38T>G (p.Leu13Arg)

HGVS:

NC_000012.12:g.12717877T>G
NG_016341.1:g.5510T>G
NM_004064.5:c.38T>GMANE SELECT
NP_004055.1:p.Leu13Arg
NC_000012.11:g.12870811T>G
NM_004064.3:c.38T>G

Protein change:

L13R

Links:

dbSNP: rs1946486449

NCBI 1000 Genomes Browser:

rs1946486449

Molecular consequence:

NM_004064.5:c.38T>G - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

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Enterococcus faecalis strain EFA 28 17, whole genome shotgun sequence
Enterococcus faecalis strain EFA 28 17, whole genome shotgun sequence
gi|2525161796|ref|NZ_JAOZZR01000001 gnl|WGS:NZ_JAOZZR01|17

Nucleotide
IS37605 AND nstd71 (0)
PMC
Drusa[All Fields] (0)
Books
Crupina[orgn] (0)
Conserved Domains
Drusa[orgn] (1)
SRA

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002620708	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 4, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002620708

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 4, 2020)

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, SCV002620708.2

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

Description

The p.L13R variant (also known as c.38T>G), located in coding exon 1 of the CDKN1B gene, results from a T to G substitution at nucleotide position 38. The leucine at codon 13 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. 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 29, 2024

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