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NM_001369.2(DNAH5):c.11761+5A>G

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Feb 20, 2020)
Last evaluated:
Nov 19, 2018
Accession:
VCV000257984.3
Variation ID:
257984
Description:
single nucleotide variant
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NM_001369.2(DNAH5):c.11761+5A>G

Allele ID
251689
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13735126 (GRCh38) GRCh38 UCSC
5: 13735235 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13735126T>C
NC_000005.9:g.13735235T>C
NM_001369.2:c.11761+5A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:13735125:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00007
The Genome Aggregation Database (gnomAD), exomes 0.00006
The Genome Aggregation Database (gnomAD) 0.00022
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA3201861
dbSNP: rs780205801
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter - RCV000245193.1
Uncertain significance 1 criteria provided, single submitter Nov 19, 2018 RCV000307774.3
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001095003.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DNAH5 - - GRCh38
GRCh37
2404 2538

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000307678.1
Submitted: (Apr 28, 2016)
Evidence details
Uncertain significance
(Nov 19, 2018)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000946170.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change falls in intron 68 of the DNAH5 gene. It does not directly change the encoded amino acid sequence of the DNAH5 protein, … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia, primary, 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000453042.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs780205801...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 23, 2021