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NM_001369.3(DNAH5):c.6217A>G (p.Met2073Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 2, 2021)
Last evaluated:
Oct 20, 2019
Accession:
VCV000904350.3
Variation ID:
904350
Description:
single nucleotide variant
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NM_001369.3(DNAH5):c.6217A>G (p.Met2073Val)

Allele ID
893041
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13830058 (GRCh38) GRCh38 UCSC
5: 13830167 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13830058T>C
NC_000005.9:g.13830167T>C
NG_013081.2:g.119423A>G
NM_001369.3:c.6217A>G MANE Select NP_001360.1:p.Met2073Val missense
Protein change
M2073V
Other names
-
Canonical SPDI
NC_000005.10:13830057:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00005
The Genome Aggregation Database (gnomAD) 0.00004
Exome Aggregation Consortium (ExAC) 0.00006
Links
dbSNP: rs752077073
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 Jan 13, 2018 RCV001152214.1
Uncertain significance 1 criteria provided, single submitter Jun 13, 2019 RCV001247854.1
Uncertain significance 1 criteria provided, single submitter Oct 20, 2019 RCV001759908.1
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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
2415 2549

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
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: SCV001313424.1
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)
Uncertain significance
(Jun 13, 2019)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV001421305.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces methionine with valine at codon 2073 of the DNAH5 protein (p.Met2073Val). The methionine residue is highly conserved and there is a … (more)
Uncertain significance
(Oct 20, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001997796.1
Submitted: (Nov 02, 2021)
Evidence details
Comment:
In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our … (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 rs752077073...

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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 Dec 04, 2021