NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro) AND Ciliary dyskinesia, primary, 3

Clinical significance:Uncertain significance (Last evaluated: Sep 21, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000778752.1

Allele description [Variation Report for NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)]

NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)

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.7502G>C (p.Arg2501Pro)
HGVS:
  • NC_000005.10:g.13810166C>G
  • NG_013081.2:g.139315G>C
  • NM_001369.2:c.7502G>C
  • NM_001369.3:c.7502G>CMANE SELECT
  • NP_001360.1:p.Arg2501Pro
  • NP_001360.1:p.Arg2501Pro
  • NC_000005.9:g.13810275C>G
  • Q8TE73:p.Arg2501Pro
Protein change:
R2501P
Links:
UniProtKB: Q8TE73#VAR_030708; dbSNP: rs78853309
NCBI 1000 Genomes Browser:
rs78853309
Molecular consequence:
  • NM_001369.2:c.7502G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369.3:c.7502G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000915116Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Sep 21, 2016)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.

Fedick AM, Jalas C, Treff NR, Knowles MR, Zariwala MA.

Mol Genet Genomic Med. 2015 Mar;3(2):137-42. doi: 10.1002/mgg3.124. Epub 2014 Dec 6.

PubMed [citation]
PMID:
25802884
PMCID:
PMC4367086

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
See all PubMed Citations (3)

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000915116.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The DNAH5 c.7502G>C (p.Arg2501Pro) variant is a missense variant that has been reported in a total of three individuals with primary ciliary dyskinesia, two of whom were sibling. In the siblings, the variant was found in trans with consensus splice-site variant, while in the third individual, it was in a compound heterozygous state with a missense variant (Hornef et al. 2006; Fedick et al. 2015). In addition, Failly et al. (2009) reported the p.Arg2501Pro variant in a patient who also carried two other missense variants, with phase unknown. The p.Arg2501Pro variant was absent from 70 controls but is reported at a frequency of 0.00128 in the European (non-Finnish) population of the Exome Aggregation Consortium. The evidence for this variant is limited. The p.Arg2501Pro variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for primary ciliary dyskinesia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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

Last Updated: Oct 30, 2021

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