NM_001369.3(DNAH5):c.9781A>G (p.Lys3261Glu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 19, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001569850.3

Allele description [Variation Report for NM_001369.3(DNAH5):c.9781A>G (p.Lys3261Glu)]

NM_001369.3(DNAH5):c.9781A>G (p.Lys3261Glu)

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.9781A>G (p.Lys3261Glu)
HGVS:
  • NC_000005.10:g.13769076T>C
  • NG_013081.2:g.180405A>G
  • NM_001369.3:c.9781A>GMANE SELECT
  • NP_001360.1:p.Lys3261Glu
  • NP_001360.1:p.Lys3261Glu
  • NC_000005.9:g.13769185T>C
  • NM_001369.2:c.9781A>G
Protein change:
K3261E
Links:
dbSNP: rs146215039
NCBI 1000 Genomes Browser:
rs146215039
Molecular consequence:
  • NM_001369.3:c.9781A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001794008GeneDxcriteria provided, single submitter
Uncertain significance
(Apr 19, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001794008.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported heterozygous using alternate nomenclature (K3162G) in a patient with heterotaxy and congenital heart disease but no second variant was identified (Li et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function This variant is associated with the following publications: (PMID: 30120289)

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

Last Updated: Dec 4, 2021

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