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NM_001369.3(DNAH5):c.12631G>A (p.Glu4211Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 13, 2018
Accession:
VCV000351012.2
Variation ID:
351012
Description:
single nucleotide variant
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NM_001369.3(DNAH5):c.12631G>A (p.Glu4211Lys)

Allele ID
300985
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13717389 (GRCh38) GRCh38 UCSC
5: 13717498 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001369.2:c.12631G>A NP_001360.1:p.Glu4211Lys missense
NC_000005.10:g.13717389C>T
NC_000005.9:g.13717498C>T
... more HGVS
Protein change
E4211K
Other names
-
Canonical SPDI
NC_000005.10:13717388:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA3201578
dbSNP: rs762673561
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 Nov 17, 2017 RCV000399901.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001095058.1
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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
2410 2544

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: SCV000452958.3
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)
Uncertain significance
(Nov 17, 2017)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000750383.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces glutamic acid with lysine at codon 4211 of the DNAH5 protein (p.Glu4211Lys). The glutamic acid residue is highly conserved and there … (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 rs762673561...

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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 Oct 24, 2021