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NM_001369.3(DNAH5):c.3599-2A>G AND Primary ciliary dyskinesia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 11, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003448946.1

Allele description [Variation Report for NM_001369.3(DNAH5):c.3599-2A>G]

NM_001369.3(DNAH5):c.3599-2A>G

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.3599-2A>G
HGVS:
  • NC_000005.10:g.13871004T>C
  • NG_013081.2:g.78477A>G
  • NM_001369.3:c.3599-2A>GMANE SELECT
  • NC_000005.9:g.13871113T>C
Molecular consequence:
  • NM_001369.3:c.3599-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
1

Condition(s)

Name:
Primary ciliary dyskinesia
Synonyms:
Ciliary dyskinesia
Identifiers:
MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004176748Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Dec 11, 2023) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
European Caucasoidmaternalyes1not providednot 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

Details of each submission

From Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre, SCV004176748.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European Caucasoid1not providednot providedclinical testing PubMed (1)

Description

The c.3599-2A>G variant affects the canonical acceptor splice site in intron 23 of the DNAH5 gene, and is predicted to disrupt RNA splicing. Loss-of-function variants in DNAH5 are known to be pathogenic (PMID:11788826, 16627867). To our knowledge, it has not been previously reported either in publicly available population and clinical databases (GnomAD, dbSNP, ClinVar), or in the literature. The patient had the c.3599-2A>G variant in trans with another likely pathogenic variant in DNAH5 (c.2052+3G>T). For these reasons, this variant has been classified as Likely Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 16, 2024