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NM_004064.5(CDKN1B):c.356T>C (p.Ile119Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 6, 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:
RCV001820909.5

Allele description [Variation Report for NM_004064.5(CDKN1B):c.356T>C (p.Ile119Thr)]

NM_004064.5(CDKN1B):c.356T>C (p.Ile119Thr)

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.356T>C (p.Ile119Thr)
HGVS:
  • NC_000012.12:g.12718195T>C
  • NG_016341.1:g.5828T>C
  • NM_004064.5:c.356T>CMANE SELECT
  • NP_004055.1:p.Ile119Thr
  • NP_004055.1:p.Ile119Thr
  • NC_000012.11:g.12871129T>C
  • NM_004064.3:c.356T>C
  • NM_004064.4:c.356T>C
Protein change:
I119T
Links:
dbSNP: rs142833529
NCBI 1000 Genomes Browser:
rs142833529
Molecular consequence:
  • NM_004064.5:c.356T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002071166Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 6, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV002071166.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

DNA sequence analysis of the CDKN1B gene demonstrated a sequence change, c.356T>C, in exon 1 that results in an amino acid change, p.Ile119Thr. This sequence change has been described in an individual with myeloproliferative disorder (PMID: 15607373), an individual with Cushing’s disease (PMID: 32232325), an individual with premature ovarian failure (PMID: 21575944), and in an individual with acromegaly (PMID: 22291433). This sequence change is present in the gnomAD database with a frequency of 0.11% in the Latino/Admixed American subpopulation (dbSNP rs142833529). The p.Ile119Thr change affects a moderately conserved amino acid residue located in a domain of the CDKN1B protein that is not known to be functional. The p.Ile119Thr substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). An in vitro assay demonstrated protein instability and disruption of the scatter domain of CDKN1B for this sequence change (PMID: 32232325). Due to insufficient evidences, the clinical significance of the p.Ile119Thr change remains unknown at this time.

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

Last Updated: Oct 20, 2024