NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter) AND Primary ciliary dyskinesia

Clinical significance:Pathogenic (Last evaluated: Oct 19, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000461399.5

Allele description [Variation Report for NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter)]

NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter)

Gene:
DNAH11:dynein axonemal heavy chain 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p15.3
Genomic location:
Preferred name:
NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter)
HGVS:
  • NC_000007.14:g.21710596C>T
  • NG_012886.2:g.172382C>T
  • NM_001277115.2:c.6727C>TMANE SELECT
  • NP_001264044.1:p.Arg2243Ter
  • NC_000007.13:g.21750214C>T
  • NM_001277115.1:c.6727C>T
  • p.R2243X
Protein change:
R2243*
Links:
dbSNP: rs201943194
NCBI 1000 Genomes Browser:
rs201943194
Molecular consequence:
  • NM_001277115.2:c.6727C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Primary ciliary dyskinesia (PCD)
Synonyms:
Polynesian bronchiectasis; Immotile cilia syndrome; Ciliary dyskinesia
Identifiers:
MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000551752Invitaecriteria provided, single submitter
Pathogenic
(Oct 19, 2020)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia.

Lai M, Pifferi M, Bush A, Piras M, Michelucci A, Di Cicco M, del Grosso A, Quaranta P, Cursi C, Tantillo E, Franceschi S, Mazzanti MC, Simi P, Saggese G, Boner A, Pistello M.

J Med Genet. 2016 Apr;53(4):242-9. doi: 10.1136/jmedgenet-2015-103539. Epub 2016 Jan 4.

PubMed [citation]
PMID:
26729821

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.

Schwabe GC, Hoffmann K, Loges NT, Birker D, Rossier C, de Santi MM, Olbrich H, Fliegauf M, Failly M, Liebers U, Collura M, Gaedicke G, Mundlos S, Wahn U, Blouin JL, Niggemann B, Omran H, Antonarakis SE, Bartoloni L.

Hum Mutat. 2008 Feb;29(2):289-98.

PubMed [citation]
PMID:
18022865
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV000551752.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This sequence change creates a premature translational stop signal (p.Arg2243*) in the DNAH11 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs201943194, ExAC 0.02%). This variant has been observed in combination with another DNAH11 variant in a family affected with primary ciliary dyskinesia (PMID: 26729821). ClinVar contains an entry for this variant (Variation ID: 289324). Loss-of-function variants in DNAH11 are known to be pathogenic (PMID: 18022865, 20513915, 22184204). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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