NM_004064.5(CDKN1B):c.-17G>A AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 11, 2022
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:: RCV002292001.2

Allele description [Variation Report for NM_004064.5(CDKN1B):c.-17G>A]

NM_004064.5(CDKN1B):c.-17G>A

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.-17G>A

HGVS:

NC_000012.12:g.12717823G>A
NG_016341.1:g.5456G>A
NM_004064.5:c.-17G>AMANE SELECT
NC_000012.11:g.12870757G>A

Molecular consequence:

NM_004064.5:c.-17G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Homo sapiens polymerase (DNA-directed), delta 4, mRNA (cDNA clone MGC:88237 IMAG...
Homo sapiens polymerase (DNA-directed), delta 4, mRNA (cDNA clone MGC:88237 IMAGE:6450262), complete cds
gi|47125377|gb|BC070250.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002584150	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Apr 11, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002584150

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Apr 11, 2022)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV002584150.2

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

Description

Describes a nucleotide substitution 17 base pairs upstream of the CDKN1B ATG translational start site in the 5' untranslated region (UTR); Nucleotide substitution has no predicted effect on splicing and is not conserved across species; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Mar 4, 2023

ClinVar

Relating variation to medicine