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NM_003114.5(SPAG1):c.902_906del (p.Lys301fs) AND Kartagener syndrome

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000190930.2

Allele description [Variation Report for NM_003114.5(SPAG1):c.902_906del (p.Lys301fs)]

NM_003114.5(SPAG1):c.902_906del (p.Lys301fs)

Gene:
SPAG1:sperm associated antigen 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8q22.2
Genomic location:
Preferred name:
NM_003114.5(SPAG1):c.902_906del (p.Lys301fs)
HGVS:
  • NC_000008.11:g.100191459_100191463del
  • NG_033834.2:g.38425_38429del
  • NM_001374321.1:c.902_906del
  • NM_003114.5:c.902_906delMANE SELECT
  • NM_172218.3:c.902_906del
  • NP_001361250.1:p.Lys301fs
  • NP_003105.2:p.Lys301fs
  • NP_757367.1:p.Lys301fs
  • NC_000008.10:g.101203687_101203691del
  • NM_172218.2:c.902_906delAAGTA
  • NP_757367.1:p.Lys301ThrfsTer4
Protein change:
K301fs
Links:
dbSNP: rs797045149
NCBI 1000 Genomes Browser:
rs797045149
Molecular consequence:
  • NM_001374321.1:c.902_906del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003114.5:c.902_906del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_172218.3:c.902_906del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Kartagener syndrome (CILD1)
Synonyms:
CILIARY DYSKINESIA, PRIMARY, 1; CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS; IMMOTILE CILIA SYNDROME; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009484; MedGen: C4551906; Orphanet: 244; OMIM: 244400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000245816GeneReviews
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.

Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, Jahnke C, Olbrich H, Werner C, Raidt J, Wallmeier J, Pennekamp P, Dougherty GW, et al.

Am J Hum Genet. 2013 Oct 3;93(4):711-20. doi: 10.1016/j.ajhg.2013.07.025. Epub 2013 Sep 19.

PubMed [citation]
PMID:
24055112
PMCID:
PMC3791252

Details of each submission

From GeneReviews, SCV000245816.2

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

Last Updated: Oct 8, 2022