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NM_031421.5(ODAD4):c.245del (p.Lys82fs) AND Primary ciliary dyskinesia 35

Germline classification:
Pathogenic (1 submission)
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:
RCV001078458.3

Allele description [Variation Report for NM_031421.5(ODAD4):c.245del (p.Lys82fs)]

NM_031421.5(ODAD4):c.245del (p.Lys82fs)

Gene:
ODAD4:outer dynein arm docking complex subunit 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_031421.5(ODAD4):c.245del (p.Lys82fs)
HGVS:
  • NC_000017.11:g.41935347del
  • NG_047031.1:g.197del
  • NG_053115.1:g.9754del
  • NM_001350319.2:c.245del
  • NM_031421.5:c.245delMANE SELECT
  • NP_001337248.1:p.Lys82fs
  • NP_113609.1:p.Lys82fs
  • NC_000017.10:g.40091600del
  • NM_031421.4:c.245delA
  • NR_110662.3:n.352del
  • NR_146621.2:n.352del
  • NR_146622.2:n.352del
Protein change:
K82fs
Links:
dbSNP: rs781949585
NCBI 1000 Genomes Browser:
rs781949585
Molecular consequence:
  • NM_001350319.2:c.245del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_031421.5:c.245del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_110662.3:n.352del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146621.2:n.352del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146622.2:n.352del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Primary ciliary dyskinesia 35
Synonyms:
CILIARY DYSKINESIA, PRIMARY, 35, WITH OR WITHOUT SITUS INVERSUS
Identifiers:
MONDO: MONDO:0014910; MedGen: C4310721; Orphanet: 244; OMIM: 617092

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001244703Biology Pathology Center, Lille University Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicgermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not provided1not 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 Biology Pathology Center, Lille University Hospital, SCV001244703.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not provided1not provided

Last Updated: Apr 23, 2022