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NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp) AND Primary ciliary dyskinesia

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jan 30, 2024
Review status:
criteria provided, conflicting classifications
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:
RCV000226887.16

Allele description [Variation Report for NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp)]

NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp)

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.11437C>T (p.Arg3813Trp)
HGVS:
  • NC_000005.10:g.13737270G>A
  • NG_013081.2:g.212211C>T
  • NG_046833.1:g.36G>A
  • NM_001369.3:c.11437C>TMANE SELECT
  • NP_001360.1:p.Arg3813Trp
  • NP_001360.1:p.Arg3813Trp
  • NC_000005.9:g.13737379G>A
  • NM_001369.2:c.11437C>T
Protein change:
R3813W
Links:
dbSNP: rs140948493
NCBI 1000 Genomes Browser:
rs140948493
Molecular consequence:
  • NM_001369.3:c.11437C>T - missense variant - [Sequence Ontology: SO:0001583]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000287056Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(Jan 30, 2024)
germlineclinical testing

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

SCV002618454Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Oct 19, 2016)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia.

Kim RH, A Hall D, Cutz E, Knowles MR, Nelligan KA, Nykamp K, Zariwala MA, Dell SD.

Ann Am Thorac Soc. 2014 Mar;11(3):351-9. doi: 10.1513/AnnalsATS.201306-194OC.

PubMed [citation]
PMID:
24498942
PMCID:
PMC4028737

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000287056.9

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

From Ambry Genetics, SCV002618454.2

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

Description

The p.R3813W variant (also known as c.11437C>T), located in coding exon 66 of the DNAH5 gene, results from a C to T substitution at nucleotide position 11437. The arginine at codon 3813 is replaced by tryptophan, an amino acid with dissimilar properties. This variant was identified in an adult with a history of neonatal respiratory distress, otitis media, bronchiectasis, sinusitis and outer dynein arm defects on electron microscopy. This individual was also heterozygous for a nonsense alteration in DNAH5; however, the phase of these alterations was not provided (Kim RH et al. Ann Am Thorac Soc, 2014 Mar;11:351-9). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 13, 2024