U.S. flag

An official website of the United States government

NM_004064.5(CDKN1B):c.362C>T (p.Ala121Val) AND CDKN1B-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 22, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003409610.5

Allele description [Variation Report for NM_004064.5(CDKN1B):c.362C>T (p.Ala121Val)]

NM_004064.5(CDKN1B):c.362C>T (p.Ala121Val)

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.362C>T (p.Ala121Val)
HGVS:
  • NC_000012.12:g.12718201C>T
  • NG_016341.1:g.5834C>T
  • NM_004064.5:c.362C>TMANE SELECT
  • NP_004055.1:p.Ala121Val
  • NP_004055.1:p.Ala121Val
  • NC_000012.11:g.12871135C>T
  • NM_004064.3:c.362C>T
  • NM_004064.4:c.362C>T
Protein change:
A121V
Links:
dbSNP: rs201685429
NCBI 1000 Genomes Browser:
rs201685429
Molecular consequence:
  • NM_004064.5:c.362C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CDKN1B-related disorder
Synonyms:
CDKN1B-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004115187PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Jul 22, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004115187.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The CDKN1B c.362C>T variant is predicted to result in the amino acid substitution p.Ala121Val. This variant has been reported in a breast cancer tumor specimen (Table 3, Viotto et al. 2021. PubMed ID: 33140857). This variant is reported in 0.0083% of alleles in individuals of African descent in gnomAD. It has conflicting interpretations of uncertain significance and likely benign in ClinVar (https://ncbi.nlm.nih.gov/clinvar/variation/404264/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024