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NM_000316.3(PTH1R):c.1050-3dup AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 2, 2021
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:
RCV002502325.1

Allele description [Variation Report for NM_000316.3(PTH1R):c.1050-3dup]

NM_000316.3(PTH1R):c.1050-3dup

Gene:
PTH1R:parathyroid hormone 1 receptor [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_000316.3(PTH1R):c.1050-3dup
HGVS:
  • NC_000003.12:g.46901411dup
  • NG_008864.1:g.28666dup
  • NM_000316.3:c.1050-3dupMANE SELECT
  • NM_001184744.1:c.1050-3dup
  • NC_000003.11:g.46942896_46942897insC
  • NC_000003.11:g.46942901dup
  • NM_000316.2:c.1050-3dupC
Links:
dbSNP: rs754628395
NCBI 1000 Genomes Browser:
rs754628395
Molecular consequence:
  • NM_000316.3:c.1050-3dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001184744.1:c.1050-3dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Primary failure of tooth eruption
Synonyms:
DENTAL NONERUPTION; PRIMARY RETENTION OF TEETH; UNERUPTED SECOND PRIMARY MOLAR; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007434; MedGen: C1852222; OMIM: 125350
Name:
Chondrodysplasia Blomstrand type (BOCD)
Synonyms:
Blomstrand's lethal chondrodysplasia; Blomstrand lethal osteochondrodysplasia
Identifiers:
MONDO: MONDO:0008970; MedGen: C1859148; Orphanet: 50945; OMIM: 215045
Name:
Eiken syndrome (EKNS)
Synonyms:
BONE MODELING DEFECT OF HANDS AND FEET; Eiken skeletal dysplasia
Identifiers:
MONDO: MONDO:0010803; MedGen: C1838779; Orphanet: 79106; OMIM: 600002
Name:
Metaphyseal chondrodysplasia, Jansen type
Synonyms:
Metaphyseal chondrodysplasia Murk Jansen type
Identifiers:
MONDO: MONDO:0007982; MedGen: C0265295; Orphanet: 33067; OMIM: 156400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002812275Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 2, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

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

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 Fulgent Genetics, Fulgent Genetics, SCV002812275.1

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

Last Updated: May 19, 2024