U.S. flag

An official website of the United States government

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

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
May 18, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000667684.3

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 3
Identifiers:
MONDO: MONDO:0012085; MedGen: C1837618; Orphanet: 244; OMIM: 608644

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000792172Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Uncertain significance
(Jun 19, 2017)
unknownclinical testing

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

Citation Link,

SCV001652840Pars Genome Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(May 18, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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

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 Counsyl, SCV000792172.1

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

From Pars Genome Lab, SCV001652840.1

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

Last Updated: Oct 13, 2024