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NM_004064.5(CDKN1B):c.-73G>A AND Multiple endocrine neoplasia type 4

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 8, 2017
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:
RCV001112160.4

Allele description [Variation Report for NM_004064.5(CDKN1B):c.-73G>A]

NM_004064.5(CDKN1B):c.-73G>A

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.-73G>A
HGVS:
  • NC_000012.12:g.12717767G>A
  • NG_016341.1:g.5400G>A
  • NM_004064.5:c.-73G>AMANE SELECT
  • NC_000012.11:g.12870701G>A
  • NM_004064.3:c.-73G>A
Links:
dbSNP: rs1592280605
NCBI 1000 Genomes Browser:
rs1592280605
Molecular consequence:
  • NM_004064.5:c.-73G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

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
SCV001269787Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Aug 8, 2017) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Deficiency of the cyclin-dependent kinase inhibitor, CDKN1B, results in overgrowth and neurodevelopmental delay.

Grey W, Izatt L, Sahraoui W, Ng YM, Ogilvie C, Hulse A, Tse E, Holic R, Yu V.

Hum Mutat. 2013 Jun;34(6):864-8. doi: 10.1002/humu.22314. Epub 2013 Apr 12.

PubMed [citation]
PMID:
23505216
PMCID:
PMC3708111

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001269787.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: May 1, 2024