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NM_001369.3(DNAH5):c.12295del (p.Leu4099fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 15, 2019)
Last evaluated:
Dec 19, 2018
Accession:
VCV000817933.1
Variation ID:
817933
Description:
1bp deletion
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NM_001369.3(DNAH5):c.12295del (p.Leu4099fs)

Allele ID
805409
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
5p15.2
Genomic location
5: 13719086 (GRCh38) GRCh38 UCSC
5: 13719195 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001369.2:c.12295delC
NC_000005.10:g.13719086del
NC_000005.9:g.13719195del
... more HGVS
Protein change
L4099fs
Other names
-
Canonical SPDI
NC_000005.10:13719085:G:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs1285287334
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Dec 19, 2018 RCV001009165.1
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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
Pathogenic
(Dec 19, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001168981.1
Submitted: (Oct 15, 2019)
Evidence details
Comment:
The c.12295delC variant in the DNAH5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The … (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 rs1285287334...

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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 Nov 27, 2021