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NM_001206927.2(DNAH8):c.11468C>T (p.Ala3823Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Feb 3, 2021)
Last evaluated:
Jan 19, 2021
Accession:
VCV000569635.3
Variation ID:
569635
Description:
single nucleotide variant
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NM_001206927.2(DNAH8):c.11468C>T (p.Ala3823Val)

Allele ID
563602
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p21.2
Genomic location
6: 38935602 (GRCh38) GRCh38 UCSC
6: 38903378 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.38903378C>T
NC_000006.12:g.38935602C>T
NM_001206927.2:c.11468C>T MANE Select NP_001193856.1:p.Ala3823Val missense
... more HGVS
Protein change
A3823V, A3606V
Other names
-
Canonical SPDI
NC_000006.12:38935601:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00029
The Genome Aggregation Database (gnomAD), exomes 0.00037
Exome Aggregation Consortium (ExAC) 0.00044
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
Trans-Omics for Precision Medicine (TOPMed) 0.00027
Links
dbSNP: rs185283741
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 15, 2018 RCV000690315.2
Uncertain significance 1 criteria provided, single submitter Jan 19, 2021 RCV001290377.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DNAH8 - - GRCh38
GRCh37
775 969
DNAH8-AS1 - - - GRCh38 - 188

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 15, 2018)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000817997.2
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces alanine with valine at codon 3823 of the DNAH8 protein (p.Ala3823Val). The alanine residue is weakly conserved and there is a … (more)
Uncertain significance
(Jan 19, 2021)
criteria provided, single submitter
Method: clinical testing
Spermatogenic failure 46
Allele origin: germline
Johns Hopkins Genomics, Johns Hopkins University
Accession: SCV001478431.1
Submitted: (Feb 03, 2021)
Evidence details
Comment:
This DNAH8 variant (rs185283741) is present in a large population dataset (gnomAD: 102/280708 total alleles; 0.036%; no homozygotes) and has been reported in ClinVar. It … (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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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

Text-mined citations for rs185283741...

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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 14, 2021