NM_001369.2(DNAH5):c.9637del (p.Ala3213fs) AND Primary ciliary dyskinesia

Clinical significance:Pathogenic (Last evaluated: Jun 20, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000662280.2

Allele description [Variation Report for NM_001369.2(DNAH5):c.9637del (p.Ala3213fs)]

NM_001369.2(DNAH5):c.9637del (p.Ala3213fs)

Gene:
DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5p15.2
Genomic location:
Preferred name:
NM_001369.2(DNAH5):c.9637del (p.Ala3213fs)
HGVS:
  • NC_000005.10:g.13769584del
  • NG_013081.1:g.179897del
  • NG_013081.2:g.179897del
  • NM_001369.2:c.9637del
  • NP_001360.1:p.Ala3213fs
  • NC_000005.9:g.13769693del
  • NM_001369.2:c.9637delG
Protein change:
A3213fs
Links:
dbSNP: rs1305797678
NCBI 1000 Genomes Browser:
rs1305797678
Molecular consequence:
  • NM_001369.2:c.9637del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000784608Yale Center for Mendelian Genomics,Yale Universityno assertion criteria providedLikely pathogenic
(Jun 6, 2014)
de novoliterature only

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

SCV001586554Invitaecriteria provided, single submitter
Pathogenic
(Jun 20, 2020)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey.

Shapiro AJ, Tolleson-Rinehart S, Zariwala MA, Knowles MR, Leigh MW.

Cardiol Young. 2015 Apr;25(4):752-9. doi: 10.1017/S1047951114000912. Epub 2014 Jun 6.

PubMed [citation]
PMID:
24905662
PMCID:
PMC4369774

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

Olbrich H, Häffner K, Kispert A, Völkel A, Volz A, Sasmaz G, Reinhardt R, Hennig S, Lehrach H, Konietzko N, Zariwala M, Noone PG, Knowles M, Mitchison HM, Meeks M, Chung EM, Hildebrandt F, Sudbrak R, Omran H.

Nat Genet. 2002 Feb;30(2):143-4. Epub 2002 Jan 14.

PubMed [citation]
PMID:
11788826
See all PubMed Citations (4)

Details of each submission

From Yale Center for Mendelian Genomics,Yale University, SCV000784608.1

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

From Invitae, SCV001586554.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Ala3213Leufs*8) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another DNAH5 variant in an individual affected with primary ciliary dyskinesia (PMID: 24905662). ClinVar contains an entry for this variant (Variation ID: 548647). Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). 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: Jun 14, 2021

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