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NM_004064.5(CDKN1B):c.334del (p.Ser112fs) AND Neuroendocrine neoplasm

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 5, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000191953.2

Allele description [Variation Report for NM_004064.5(CDKN1B):c.334del (p.Ser112fs)]

NM_004064.5(CDKN1B):c.334del (p.Ser112fs)

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.334del (p.Ser112fs)
HGVS:
  • NC_000012.12:g.12718173del
  • NG_016341.1:g.5806del
  • NM_004064.5:c.334delMANE SELECT
  • NP_004055.1:p.Ser112fs
  • NC_000012.11:g.12871107del
  • NM_004064.4:c.334delA
Protein change:
S112fs
Links:
dbSNP: rs797044483
NCBI 1000 Genomes Browser:
rs797044483
Molecular consequence:
  • NM_004064.5:c.334del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Neuroendocrine neoplasm
Identifiers:
MONDO: MONDO:0019496; MedGen: C0206754; Human Phenotype Ontology: HP:0100634

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000189149James Howe Lab, University of Iowa Hospital and Clinics
no assertion criteria provided
Likely pathogenic
(Sep 5, 2014) 		somaticresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyes1not providednot provided86not providedresearch

Details of each submission

From James Howe Lab, University of Iowa Hospital and Clinics, SCV000189149.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyes86not providednot provided1not providednot providednot provided

Last Updated: May 7, 2024