NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter) AND Ciliary dyskinesia, primary, 3

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Nov 27, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000671066.2

Allele description [Variation Report for NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter)]

NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter)

Gene:
DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.2
Genomic location:
Preferred name:
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter)
HGVS:
  • NC_000005.10:g.13830621G>A
  • NG_013081.2:g.118860C>T
  • NM_001369.3:c.6037C>TMANE SELECT
  • NP_001360.1:p.Arg2013Ter
  • NP_001360.1:p.Arg2013Ter
  • NC_000005.9:g.13830730G>A
  • NM_001369.2:c.6037C>T
Protein change:
R2013*
Links:
dbSNP: rs1273352530
NCBI 1000 Genomes Browser:
rs1273352530
Molecular consequence:
  • NM_001369.3:c.6037C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Ciliary dyskinesia, primary, 3 (CILD3)
Identifiers:
MONDO: MONDO:0012085; MedGen: C1837618; Orphanet: 244; OMIM: 608644

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000796006Counsylcriteria provided, single submitter
Likely pathogenic
(Nov 27, 2017)
unknownclinical testing

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

Citation Link,

SCV001244688Biology Pathology Center,Lille University Hospitalcriteria provided, single submitter
Pathogenicpaternalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
Caucasianpaternalyes11not provided1not providedclinical testing

Citations

PubMed

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, Wildhaber J, Noone PG, Kennedy M, Antonarakis SE, Blouin JL, Bartoloni L, Nüsslein T, Ahrens P, Griese M, Kuhl H, Sudbrak R, Knowles MR, Reinhardt R, Omran H.

Am J Respir Crit Care Med. 2006 Jul 15;174(2):120-6. Epub 2006 Apr 20.

PubMed [citation]
PMID:
16627867
PMCID:
PMC2662904

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 Counsyl, SCV000796006.1

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

From Biology Pathology Center,Lille University Hospital, SCV001244688.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyes1not providednot provided1not provided1not provided

Last Updated: Dec 4, 2021

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