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NM_001369.2(DNAH5):c.3775G>A (p.Ala1259Thr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 11, 2020
Accession:
VCV000195809.5
Variation ID:
195809
Description:
single nucleotide variant
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NM_001369.2(DNAH5):c.3775G>A (p.Ala1259Thr)

Allele ID
192970
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13870826 (GRCh38) GRCh38 UCSC
5: 13870935 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13870826C>T
NC_000005.9:g.13870935C>T
NM_001369.2:c.3775G>A NP_001360.1:p.Ala1259Thr missense
... more HGVS
Protein change
A1259T
Other names
-
Canonical SPDI
NC_000005.10:13870825:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00039
1000 Genomes Project 0.00100
The Genome Aggregation Database (gnomAD), exomes 0.00029
Trans-Omics for Precision Medicine (TOPMed) 0.00113
The Genome Aggregation Database (gnomAD) 0.00121
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00177
Links
ClinGen: CA242431
dbSNP: rs112217391
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 - RCV000247012.3
Uncertain significance 1 criteria provided, single submitter Oct 31, 2014 RCV000724084.3
Likely benign 2 criteria provided, single submitter Nov 11, 2020 RCV001089342.3
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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
2404 2538

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000307750.1
Submitted: (Apr 28, 2016)
Evidence details
Uncertain significance
(Oct 31, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000228131.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Nov 11, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV001002153.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jan 17, 2020)
no assertion criteria provided
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Natera, Inc.
Accession: SCV001458609.1
Submitted: (Dec 28, 2020)
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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DNAH5 - - - -

Text-mined citations for rs112217391...

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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 23, 2021