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NM_024529.5(CDC73):c.48G>T (p.Lys16Asn) AND Parathyroid carcinoma

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 1, 2022
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV002298356.4

Allele description [Variation Report for NM_024529.5(CDC73):c.48G>T (p.Lys16Asn)]

NM_024529.5(CDC73):c.48G>T (p.Lys16Asn)

Gene:
CDC73:cell division cycle 73 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q31.2
Genomic location:
Preferred name:
NM_024529.5(CDC73):c.48G>T (p.Lys16Asn)
HGVS:
  • NC_000001.11:g.193122248G>T
  • NG_012691.1:g.5291G>T
  • NG_092888.1:g.821G>T
  • NG_092889.1:g.174G>T
  • NM_024529.5:c.48G>TMANE SELECT
  • NP_078805.3:p.Lys16Asn
  • NP_078805.3:p.Lys16Asn
  • LRG_507t1:c.48G>T
  • LRG_507:g.5291G>T
  • LRG_507p1:p.Lys16Asn
  • NC_000001.10:g.193091378G>T
  • NM_024529.4:c.48G>T
...more
Protein change:
K16N
Molecular consequence:
  • NM_024529.5:c.48G>T - missense variant - [Sequence Ontology: SO:0001583]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002598011Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Oct 1, 2022)
germlineclinical testing

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

Last Updated: Sep 29, 2024

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