U.S. flag

An official website of the United States government

NM_152732.5(RSPH9):c.244del (p.Trp82fs) AND Primary ciliary dyskinesia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 1, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV001849609.10

Allele description [Variation Report for NM_152732.5(RSPH9):c.244del (p.Trp82fs)]

NM_152732.5(RSPH9):c.244del (p.Trp82fs)

Gene:
RSPH9:radial spoke head component 9 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_152732.5(RSPH9):c.244del (p.Trp82fs)
HGVS:
  • NC_000006.12:g.43650391del
  • NG_023436.1:g.10362del
  • NG_028283.4:g.138304del
  • NM_001193341.2:c.244del
  • NM_001424119.1:c.244del
  • NM_001424120.1:c.244del
  • NM_001424121.1:c.244del
  • NM_152732.5:c.244delMANE SELECT
  • NP_001180270.1:p.Trp82fs
  • NP_001411048.1:p.Trp82fs
  • NP_001411049.1:p.Trp82fs
  • NP_001411050.1:p.Trp82fs
  • NP_689945.2:p.Trp82fs
  • NC_000006.11:g.43618128del
  • NM_152732.4:c.244delT
  • NR_187614.1:n.307del
Protein change:
W82fs
Links:
dbSNP: rs2127891310
NCBI 1000 Genomes Browser:
rs2127891310
Molecular consequence:
  • NM_001193341.2:c.244del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001424119.1:c.244del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001424120.1:c.244del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001424121.1:c.244del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_152732.5:c.244del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_187614.1:n.307del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002106490Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics
no assertion criteria provided
Likely pathogenic
(Aug 1, 2018) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedliterature only

Citations

PubMed

Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.

Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, Milla C, Pittman JE, Shapiro AJ, Sullivan KM, Nykamp KR, Krischer JP, Zariwala MA, Knowles MR, Leigh MW.

Am J Respir Crit Care Med. 2019 Jan 15;199(2):190-198. doi: 10.1164/rccm.201803-0548OC.

PubMed [citation]
PMID:
30067075
PMCID:
PMC6353004

Details of each submission

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106490.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 16, 2024