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NM_004064.5(CDKN1B):c.15_16dup (p.Val6fs) AND Multiple endocrine neoplasia type 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 8, 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:
RCV001385780.5

Allele description [Variation Report for NM_004064.5(CDKN1B):c.15_16dup (p.Val6fs)]

NM_004064.5(CDKN1B):c.15_16dup (p.Val6fs)

Gene:
CDKN1B:cyclin dependent kinase inhibitor 1B [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12p13.1
Genomic location:
Preferred name:
NM_004064.5(CDKN1B):c.15_16dup (p.Val6fs)
HGVS:
  • NC_000012.12:g.12717854_12717855dup
  • NG_016341.1:g.5487_5488dup
  • NM_004064.5:c.15_16dupMANE SELECT
  • NP_004055.1:p.Val6fs
  • NC_000012.11:g.12870786_12870787insGA
  • NC_000012.11:g.12870788_12870789dup
Protein change:
V6fs
Links:
dbSNP: rs2136355351
NCBI 1000 Genomes Browser:
rs2136355351
Molecular consequence:
  • NM_004064.5:c.15_16dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001585743Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 8, 2020) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans.

Pellegata NS, Quintanilla-Martinez L, Siggelkow H, Samson E, Bink K, Höfler H, Fend F, Graw J, Atkinson MJ.

Proc Natl Acad Sci U S A. 2006 Oct 17;103(42):15558-63. Epub 2006 Oct 9. Erratum in: Proc Natl Acad Sci U S A. 2006 Dec 12;103(50):19213.

PubMed [citation]
PMID:
17030811
PMCID:
PMC1622862

A heterozygous frameshift mutation in exon 1 of CDKN1B gene in a patient affected by MEN4 syndrome.

Tonelli F, Giudici F, Giusti F, Marini F, Cianferotti L, Nesi G, Brandi ML.

Eur J Endocrinol. 2014 Aug;171(2):K7-K17. doi: 10.1530/EJE-14-0080. Epub 2014 May 12.

PubMed [citation]
PMID:
24819502
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001585743.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CDKN1B are known to be pathogenic (PMID: 17030811, 24819502). This variant has not been reported in the literature in individuals with CDKN1B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val6Glufs*37) in the CDKN1B gene. It is expected to result in an absent or disrupted protein product.

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

Last Updated: Sep 29, 2024