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NM_001369.3(DNAH5):c.2052+6_2052+7delinsAG

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 21, 2016)
Last evaluated:
Nov 3, 2016
Accession:
VCV000373197.1
Variation ID:
373197
Description:
2bp indel
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NM_001369.3(DNAH5):c.2052+6_2052+7delinsAG

Allele ID
359648
Variant type
Indel
Variant length
2 bp
Cytogenetic location
5p15.2
Genomic location
5: 13901245-13901246 (GRCh38) GRCh38 UCSC
5: 13901354-13901355 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.13901245_13901246delinsCT
NC_000005.9:g.13901354_13901355delinsCT
NG_013081.2:g.48235_48236delinsAG
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:13901244:GA:CT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16042582
dbSNP: rs1057518277
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Nov 3, 2016 RCV000413011.1
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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
Uncertain significance
(Nov 03, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000491775.1
Submitted: (Dec 21, 2016)
Evidence details
Comment:
The c.2052+6_2052+7delTCinsAG variant in the DNAH5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This … (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 rs1057518277...

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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