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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000246271	Endocrine Unit 2, University Hospital of Pisa	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2015)	germline	research, in vitro	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000246271

Endocrine Unit 2, University Hospital of Pisa

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2015)

germline

research, in vitro

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	147	not provided	in 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)
2	not provided	not provided	not provided	not provided	in vitro	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	147	not provided	not provided		1	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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