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NM_004064.5(CDKN1B):c.283C>T (p.Pro95Ser) AND Multiple endocrine neoplasia type 4

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 21, 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:
RCV000457793.9

Allele description [Variation Report for NM_004064.5(CDKN1B):c.283C>T (p.Pro95Ser)]

NM_004064.5(CDKN1B):c.283C>T (p.Pro95Ser)

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.283C>T (p.Pro95Ser)
HGVS:
  • NC_000012.12:g.12718122C>T
  • NG_016341.1:g.5755C>T
  • NM_004064.5:c.283C>TMANE SELECT
  • NP_004055.1:p.Pro95Ser
  • NP_004055.1:p.Pro95Ser
  • NC_000012.11:g.12871056C>T
  • NM_004064.3:c.283C>T
  • NM_004064.4:c.283C>T
Protein change:
P95S
Links:
dbSNP: rs188579132
NCBI 1000 Genomes Browser:
rs188579132
Molecular consequence:
  • NM_004064.5:c.283C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Multiple endocrine neoplasia type 4
Synonyms:
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV
Identifiers:
MONDO: MONDO:0012552; MedGen: C1970712; OMIM: 610755

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000541761Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Oct 21, 2022) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

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Summary from all submissions

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

Citations

PubMed

Nothing to display

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000541761.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 95 of the CDKN1B protein (p.Pro95Ser). This variant is present in population databases (rs188579132, gnomAD 0.01%). This missense change has been observed in individual(s) with multiple neoplasia type 1 and Zollinger-Ellison syndrome (PMID: 19141585). ClinVar contains an entry for this variant (Variation ID: 404265). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Experimental studies have shown that this missense change affects CDKN1B function (PMID: 19141585). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024