NM_001369.3(DNAH5):c.2431+5G>A AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000489824.1

Allele description [Variation Report for NM_001369.3(DNAH5):c.2431+5G>A]

NM_001369.3(DNAH5):c.2431+5G>A

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.2431+5G>A
HGVS:
  • NC_000005.10:g.13894645C>T
  • NG_013081.2:g.54836G>A
  • NM_001369.2:c.2431+5G>A
  • NM_001369.3:c.2431+5G>AMANE SELECT
  • NC_000005.9:g.13894754C>T
Links:
dbSNP: rs369244905
NCBI 1000 Genomes Browser:
rs369244905
Molecular consequence:
  • NM_001369.2:c.2431+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369.3:c.2431+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000576553GeneDxcriteria provided, single submitter
Uncertain significance
(Apr 28, 2017)
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, SCV000576553.3

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

Description

The c.2431+5G>A variant in the DNAH5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant reduces the quality of the splice acceptor site in intron 16, and is expected to cause abnormal gene splicing. The c.2431+5G>A variant is observed in 11/10390 (0.11%) alleles from individuals of African background, in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.2431+5G>A as a variant of uncertain significance.

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

Last Updated: Oct 25, 2021

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