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NM_001369.3(DNAH5):c.2578-15_2578-7dup

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 14, 2019)
Last evaluated:
May 27, 2017
Accession:
VCV000773871.1
Variation ID:
773871
Description:
9bp duplication
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NM_001369.3(DNAH5):c.2578-15_2578-7dup

Allele ID
777561
Variant type
Duplication
Variant length
9 bp
Cytogenetic location
5p15.2
Genomic location
5: 13886135-13886136 (GRCh38) GRCh38 UCSC
5: 13886244-13886245 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001369.2:c.2578-15_2578-7dupTTTTTTTTT
NC_000005.10:g.13886146_13886154dup
NC_000005.9:g.13886255_13886263dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:13886135:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs71600031
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 May 27, 2017 RCV000953717.1
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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
Likely benign
(May 27, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001100299.1
Submitted: (Mar 14, 2019)
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 rs71600031...

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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 Oct 24, 2021