NM_001369.2(DNAH5):c.9203A>G (p.Glu3068Gly) AND Primary ciliary dyskinesia

Clinical significance:Likely benign (Last evaluated: Nov 13, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001083277.3

Allele description [Variation Report for NM_001369.2(DNAH5):c.9203A>G (p.Glu3068Gly)]

NM_001369.2(DNAH5):c.9203A>G (p.Glu3068Gly)

Gene:
DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.2
Genomic location:
Preferred name:
NM_001369.2(DNAH5):c.9203A>G (p.Glu3068Gly)
HGVS:
  • NC_000005.10:g.13776609T>C
  • NG_013081.1:g.172872A>G
  • NG_013081.2:g.172872A>G
  • NM_001369.2:c.9203A>G
  • NP_001360.1:p.Glu3068Gly
  • NC_000005.9:g.13776718T>C
Protein change:
E3068G
Links:
dbSNP: rs141571121
NCBI 1000 Genomes Browser:
rs141571121
Molecular consequence:
  • NM_001369.2:c.9203A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001004521Invitaecriteria provided, single submitter
Likely benign
(Nov 13, 2020)
germlineclinical testing

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

SCV001452466Natera, Inc.no assertion criteria providedUncertain significance
(Oct 28, 2019)
germlineclinical testing

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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001004521.3

#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 Natera, Inc., SCV001452466.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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