NM_001369.2(DNAH5):c.1828C>T (p.Gln610Ter) AND Ciliary dyskinesia, primary, 3

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2002)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000006853.4

Allele description [Variation Report for NM_001369.2(DNAH5):c.1828C>T (p.Gln610Ter)]

NM_001369.2(DNAH5):c.1828C>T (p.Gln610Ter)

Gene:
DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.2
Genomic location:
Preferred name:
NM_001369.2(DNAH5):c.1828C>T (p.Gln610Ter)
HGVS:
  • NC_000005.10:g.13901476G>A
  • NG_013081.1:g.48005C>T
  • NG_013081.2:g.48005C>T
  • NM_001369.2:c.1828C>T
  • NP_001360.1:p.Gln610Ter
  • NC_000005.9:g.13901585G>A
Protein change:
Q610*; GLN610TER
Links:
OMIM: 603335.0004; dbSNP: rs121908853
NCBI 1000 Genomes Browser:
rs121908853
Molecular consequence:
  • NM_001369.2:c.1828C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000027049OMIMno assertion criteria providedPathogenic
(Feb 1, 2002)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

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

Details of each submission

From OMIM, SCV000027049.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Scottish family, Olbrich et al. (2002) found that a brother and sister with primary ciliary dyskinesia-3 (CILD3; 608644) were compound heterozygotes for a gln610-to-stop (Q610X) nonsense mutation and a 1-bp insertional mutation (5130insA; 603335.0005) in the DNAH5 gene.

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

Last Updated: Apr 17, 2020

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