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NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly) 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:
RCV000190919.10

Allele description [Variation Report for NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly)]

NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly)

Gene:
ZMYND10:zinc finger MYND-type containing 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly)
Other names:
ZMYND10, VAL16GLY (rs138815960)
HGVS:
  • NC_000003.12:g.50345533A>C
  • NG_023270.1:g.404T>G
  • NG_042828.1:g.5214T>G
  • NM_001308379.2:c.47T>G
  • NM_015896.4:c.47T>GMANE SELECT
  • NP_001295308.1:p.Val16Gly
  • NP_056980.2:p.Val16Gly
  • NP_056980.2:p.Val16Gly
  • NC_000003.11:g.50382964A>C
  • NM_015896.2:c.47T>G
  • NM_015896.3:c.47T>G
  • O75800:p.Val16Gly
Protein change:
V16G; VAL16GLY
Links:
UniProtKB: O75800#VAR_070184; OMIM: 607070.0001; dbSNP: rs138815960
NCBI 1000 Genomes Browser:
rs138815960
Molecular consequence:
  • NM_001308379.2:c.47T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015896.4:c.47T>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000245805GeneReviews
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 ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

Moore DJ, Onoufriadis A, Shoemark A, Simpson MA, zur Lage PI, de Castro SC, Bartoloni L, Gallone G, Petridi S, Woollard WJ, Antony D, Schmidts M, Didonna T, Makrythanasis P, Bevillard J, Mongan NP, Djakow J, Pals G, Lucas JS, Marthin JK, Nielsen KG, Santoni F, et al.

Am J Hum Genet. 2013 Aug 8;93(2):346-56. doi: 10.1016/j.ajhg.2013.07.009. Epub 2013 Jul 25.

PubMed [citation]
PMID:
23891471
PMCID:
PMC3738835

Details of each submission

From GeneReviews, SCV000245805.2

#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: Jun 2, 2024