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NM_001369.3(DNAH5):c.3655C>T (p.Arg1219Cys)

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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 2, 2019
Accession:
VCV000907007.2
Variation ID:
907007
Description:
single nucleotide variant
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NM_001369.3(DNAH5):c.3655C>T (p.Arg1219Cys)

Allele ID
893057
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13870946 (GRCh38) GRCh38 UCSC
5: 13871055 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001369.2:c.3655C>T NP_001360.1:p.Arg1219Cys missense
NC_000005.10:g.13870946G>A
NC_000005.9:g.13871055G>A
... more HGVS
Protein change
R1219C
Other names
-
Canonical SPDI
NC_000005.10:13870945:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 RCV001156530.1
Uncertain significance 1 criteria provided, single submitter Jan 2, 2019 RCV001243030.1
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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: SCV001318032.1
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
(Jan 02, 2019)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV001416160.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces arginine with cysteine at codon 1219 of the DNAH5 protein (p.Arg1219Cys). The arginine residue is moderately conserved and there is a … (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.

Record last updated Oct 24, 2021