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NM_003611.3(OFD1):c.2273C>G (p.Ser758Ter) AND Primary ciliary dyskinesia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 23, 2022
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:
RCV001255273.3

Allele description [Variation Report for NM_003611.3(OFD1):c.2273C>G (p.Ser758Ter)]

NM_003611.3(OFD1):c.2273C>G (p.Ser758Ter)

Gene:
OFD1:OFD1 centriole and centriolar satellite protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.2
Genomic location:
Preferred name:
NM_003611.3(OFD1):c.2273C>G (p.Ser758Ter)
HGVS:
  • NC_000023.11:g.13761097C>G
  • NG_008872.1:g.31385C>G
  • NM_001330209.2:c.2153C>G
  • NM_001330210.2:c.1853C>G
  • NM_003611.3:c.2273C>GMANE SELECT
  • NP_001317138.1:p.Ser718Ter
  • NP_001317139.1:p.Ser618Ter
  • NP_003602.1:p.Ser758Ter
  • NC_000023.10:g.13779216C>G
  • NM_003611.2:c.2273C>G
Protein change:
S618*
Links:
dbSNP: rs2047909739
NCBI 1000 Genomes Browser:
rs2047909739
Molecular consequence:
  • NM_001330209.2:c.2153C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001330210.2:c.1853C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003611.3:c.2273C>G - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Primary ciliary dyskinesia
Synonyms:
Ciliary dyskinesia
Identifiers:
MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001431637UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jun 23, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes21not 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 UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill, SCV001431637.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing
(GTR000576399.1)		 PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided
(GTR000576399.1)		2not provided1not provided

Last Updated: Sep 16, 2024