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NM_004064.5(CDKN1B):c.-80C>T AND Primary hyperparathyroidism

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2015
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:
RCV000210356.1

Allele description [Variation Report for NM_004064.5(CDKN1B):c.-80C>T]

NM_004064.5(CDKN1B):c.-80C>T

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.-80C>T
HGVS:
  • NC_000012.12:g.12717760C>T
  • NG_016341.1:g.5393C>T
  • NM_004064.5:c.-80C>TMANE SELECT
  • NC_000012.11:g.12870694C>T
  • NM_004064.3:c.-80C>T
  • NM_004064.4:c.-80C>T
Links:
dbSNP: rs551236750
NCBI 1000 Genomes Browser:
rs551236750
Molecular consequence:
  • NM_004064.5:c.-80C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
Primary hyperparathyroidism
Synonyms:
Primary hyperthyroidism; Primary hyperparathyroidism (disease)
Identifiers:
MONDO: MONDO:0010837; MedGen: C0221002; Human Phenotype Ontology: HP:0008200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000246271Endocrine Unit 2, University Hospital of Pisa
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Jan 1, 2015)
germlineresearch, in vitro

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided147not providedin vitro, research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Endocrine Unit 2, University Hospital of Pisa, SCV000246271.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
2not providednot providednot providednot providedin vitro PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes147not providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024