NM_004064.5(CDKN1B):c.49_52del (p.Asp17fs) AND Multiple endocrine neoplasia type 4

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 21, 2016
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:: RCV000464377.5

Allele description [Variation Report for NM_004064.5(CDKN1B):c.49_52del (p.Asp17fs)]

NM_004064.5(CDKN1B):c.49_52del (p.Asp17fs)

Gene:

CDKN1B:cyclin dependent kinase inhibitor 1B [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12p13.1

Genomic location:

Preferred name:

NM_004064.5(CDKN1B):c.49_52del (p.Asp17fs)

HGVS:

NC_000012.11:g.12870821_12870824del
NC_000012.12:g.12717888_12717891del
NG_016341.1:g.5521_5524del
NM_004064.5:c.49_52delMANE SELECT
NP_004055.1:p.Asp17fs
NC_000012.11:g.12870821_12870824del
NC_000012.11:g.12870821_12870824delGGAC
NC_000012.11:g.12870822_12870825del
NM_004064.4:c.49_52delGACG

Protein change:

D17fs

Links:

dbSNP: rs1060500186

NCBI 1000 Genomes Browser:

rs1060500186

Molecular consequence:

NM_004064.5:c.49_52del - 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

Recent activity

Clear Turn Off Turn On

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
SCV000541762	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Oct 21, 2016)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 17030811, 24819502, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000541762

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Oct 21, 2016)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV000541762.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change deletes 4 nucleotides from exon 1 of the CDKN1B mRNA (c.49_52delGACG), causing a frameshift at codon 17. This creates a premature translational stop signal (p.Asp17Profs*24) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in CDKN1B are known to be pathogenic (PMID: 17030811, 24819502). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine