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NM_001369.3(DNAH5):c.7212T>C (p.Asp2404=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 10, 2020
Accession:
VCV000227328.4
Variation ID:
227328
Description:
single nucleotide variant
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NM_001369.3(DNAH5):c.7212T>C (p.Asp2404=)

Allele ID
229253
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13814623 (GRCh38) GRCh38 UCSC
5: 13814732 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.13814732A>G
NC_000005.10:g.13814623A>G
NG_013081.2:g.134858T>C
NM_001369.3:c.7212T>C MANE Select NP_001360.1:p.Asp2404= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:13814622:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA10576647
dbSNP: rs876657454
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Dec 16, 2015 RCV000223615.1
Likely benign 1 criteria provided, single submitter May 18, 2018 RCV000475967.2
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001157581.1
Likely benign 1 criteria provided, single submitter Jun 10, 2020 RCV001484159.1
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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
Likely benign
(Dec 16, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000270151.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Asp2404Asp in exon 43 of DNAH5: This variant is not expected to have clinical significance because it does not alter an amino acid residue and … (more)
Likely benign
(May 18, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000558013.3
Submitted: (Mar 14, 2019)
Evidence details
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia, primary, 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001319169.1
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)
Likely benign
(Jun 10, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV001688571.1
Submitted: (Jan 07, 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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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 rs876657454...

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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