NM_001369.3(DNAH5):c.6308C>A (p.Ser2103Ter) AND Primary ciliary dyskinesia

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Oct 27, 2020)

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:
RCV001255288.2

Allele description [Variation Report for NM_001369.3(DNAH5):c.6308C>A (p.Ser2103Ter)]

NM_001369.3(DNAH5):c.6308C>A (p.Ser2103Ter)

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.6308C>A (p.Ser2103Ter)
HGVS:
  • NC_000005.10:g.13829646G>T
  • NG_013081.1:g.119835C>A
  • NG_013081.2:g.119835C>A
  • NM_001369.3:c.6308C>AMANE SELECT
  • NP_001360.1:p.Ser2103Ter
  • NC_000005.9:g.13829755G>T
  • NM_001369.2:c.6308C>A
Protein change:
S2103*
Molecular consequence:
  • NM_001369.3:c.6308C>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

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
SCV001431722UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hillcriteria provided, single submitter
Likely pathogenic
(Jul 5, 2018)
germlineclinical testing

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

SCV001579159Invitaecriteria provided, single submitter
Pathogenic
(Oct 27, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes11not providednot providednot providedclinical testing

Citations

PubMed

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

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 UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill, SCV001431722.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing
(GTR000576399.1)
PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided
(GTR000576399.1)
1not provided1not provided

From Invitae, SCV001579159.1

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

Description

This sequence change creates a premature translational stop signal (p.Ser2103*) in the DNAH5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). This variant is present in population databases (rs769260126, ExAC 0.001%). This variant has not been reported in the literature in individuals with DNAH5-related conditions. ClinVar contains an entry for this variant (Variation ID: 977578). 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: Aug 27, 2021

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