NM_001369.3(DNAH5):c.11694G>T (p.Leu3898Phe) AND Primary ciliary dyskinesia

Clinical significance:Uncertain significance (Last evaluated: Mar 24, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_001369.3(DNAH5):c.11694G>T (p.Leu3898Phe)]

NM_001369.3(DNAH5):c.11694G>T (p.Leu3898Phe)

DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001369.3(DNAH5):c.11694G>T (p.Leu3898Phe)
  • NC_000005.10:g.13735198C>A
  • NG_013081.2:g.214283G>T
  • NM_001369.2:c.11694G>T
  • NM_001369.3:c.11694G>TMANE SELECT
  • NP_001360.1:p.Leu3898Phe
  • NP_001360.1:p.Leu3898Phe
  • NC_000005.9:g.13735307C>A
Protein change:
dbSNP: rs200798994
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001369.2:c.11694G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369.3:c.11694G>T - missense variant - [Sequence Ontology: SO:0001583]


Primary ciliary dyskinesia (PCD)
Polynesian bronchiectasis; Immotile cilia syndrome; Ciliary dyskinesia
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)
SCV000624202Invitaecriteria provided, single submitter
Uncertain significance
(Mar 24, 2017)
germlineclinical testing

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

Summary from all submissions

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



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):240-242.

PubMed [citation]

Details of each submission

From Invitae, SCV000624202.1

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


This sequence change replaces leucine with phenylalanine at codon 3898 of the DNAH5 protein (p.Leu3898Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs200798994, ExAC 0.2%) but has not been reported in the literature in individuals with a DNAH5-related disease. ClinVar contains an entry for this variant (Variation ID: 351036). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 25, 2021

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