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NM_024529.5(CDC73):c.766_767del (p.Val256fs) AND Parathyroid carcinoma

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000020885.5

Allele description [Variation Report for NM_024529.5(CDC73):c.766_767del (p.Val256fs)]

NM_024529.5(CDC73):c.766_767del (p.Val256fs)

Gene:
CDC73:cell division cycle 73 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q31.2
Genomic location:
Preferred name:
NM_024529.5(CDC73):c.766_767del (p.Val256fs)
HGVS:
  • NC_000001.11:g.193147903_193147904del
  • NG_012691.1:g.30946_30947del
  • NM_024529.5:c.766_767delMANE SELECT
  • NP_078805.3:p.Val256Lysfs
  • NP_078805.3:p.Val256fs
  • LRG_507t1:c.766_767del
  • LRG_507:g.30946_30947del
  • LRG_507p1:p.Val256Lysfs
  • NC_000001.10:g.193117033_193117034del
  • NM_024529.3:c.766_767delGT
  • NM_024529.4:c.766_767delGT
Protein change:
V256fs
Links:
OMIM: 607393.0011; dbSNP: rs80356650
NCBI 1000 Genomes Browser:
rs80356650
Molecular consequence:
  • NM_024529.5:c.766_767del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Parathyroid carcinoma (PRTC)
Synonyms:
Parathyroid cancer; Parathyroid gland carcinoma; CDC73-Related Parathyroid Carcinoma
Identifiers:
MONDO: MONDO:0012004; MedGen: C0687150; Orphanet: 143; OMIM: 608266; Human Phenotype Ontology: HP:0006780

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000041479GeneReviews
no classification provided
not providedunknownliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene.

Cavaco BM, Guerra L, Bradley KJ, Carvalho D, Harding B, Oliveira A, Santos MA, Sobrinho LG, Thakker RV, Leite V.

J Clin Endocrinol Metab. 2004 Apr;89(4):1747-52.

PubMed [citation]
PMID:
15070940

CDC73-Related Disorders.

Skefos CM, Waguespack SG, Perrier ND, Hu MI.

2008 Dec 31 [updated 2023 Sep 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
20301744

Details of each submission

From GeneReviews, SCV000041479.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Feb 18, 2023