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NC_000005.10:g.13923291_13923292delinsC

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 6, 2020)
Last evaluated:
Dec 3, 2019
Accession:
VCV000971729.1
Variation ID:
971729
Description:
2bp indel
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NC_000005.10:g.13923291_13923292delinsC

Allele ID
954051
Variant type
Indel
Variant length
2 bp
Cytogenetic location
5p15.2
Genomic location
5: 13923291-13923292 (GRCh38) GRCh38 UCSC
5: 13923400-13923401 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13923291_13923292delinsC
NC_000005.9:g.13923400_13923401delinsC
NG_013081.1:g.26189_26190delinsG
NG_013081.2:g.26189_26190delinsG
Protein change
D142fs
Other names
-
Canonical SPDI
NC_000005.10:13923290:TG:C
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
Pathogenic 1 criteria provided, single submitter Dec 3, 2019 RCV001247575.1
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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
2404 2538

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 03, 2019)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV001421004.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change creates a premature translational stop signal (p.Asp142Glufs*7) in the DNAH5 gene. It is expected to result in an absent or disrupted protein … (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 Jun 14, 2021