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NM_001206927.2(DNAH8):c.11563+1G>T

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Aug 26, 2021)
Last evaluated:
May 8, 2019
Accession:
VCV000570182.4
Variation ID:
570182
Description:
single nucleotide variant
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NM_001206927.2(DNAH8):c.11563+1G>T

Allele ID
565656
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p21.2
Genomic location
6: 38935698 (GRCh38) GRCh38 UCSC
6: 38903474 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.38903474G>T
NC_000006.12:g.38935698G>T
NG_041805.1:g.225358G>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:38935697:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00013
The Genome Aggregation Database (gnomAD) 0.00006
Links
dbSNP: rs776791493
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, multiple submitters, no conflicts May 8, 2019 RCV000690985.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DNAH8 - - GRCh38
GRCh37
776 972
DNAH8-AS1 - - - GRCh38 - 190

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Dec 07, 2018)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000818719.2
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change affects donor splice site in intron 77 of the DNAH8 gene. It is expected to disrupt RNA splicing and likely results in … (more)
Likely pathogenic
(May 08, 2019)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill
Accession: SCV001431765.2
Submitted: (Aug 26, 2021)
Evidence details

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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. Watson CM Human mutation 2014 PMID: 24307375

Text-mined citations for rs776791493...

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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 Nov 27, 2021