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NM_024529.5(CDC73):c.-4dup AND Parathyroid carcinoma

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jan 15, 2024
Review status:
criteria provided, conflicting classifications
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:
RCV000365849.22

Allele description [Variation Report for NM_024529.5(CDC73):c.-4dup]

NM_024529.5(CDC73):c.-4dup

Gene:
CDC73:cell division cycle 73 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q31.2
Genomic location:
Preferred name:
NM_024529.5(CDC73):c.-4dup
HGVS:
  • NC_000001.11:g.193122197dup
  • NG_012691.1:g.5240dup
  • NM_024529.5:c.-4dupMANE SELECT
  • LRG_507t1:c.-4dup
  • LRG_507:g.5240dup
  • NC_000001.10:g.193091319_193091320insG
  • NC_000001.10:g.193091327dup
  • NM_024529.4:c.-4dup
  • NM_024529.4:c.-4dupG
  • NM_024529.5:c.-4dupGMANE SELECT
Links:
dbSNP: rs545666726
NCBI 1000 Genomes Browser:
rs545666726
Molecular consequence:
  • NM_024529.5:c.-4dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

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
SCV000352115Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV001001025Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Benign
(Jan 15, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000352115.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001001025.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024