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NM_001277115.2(DNAH11):c.9925-7T>C

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 22, 2020
Accession:
VCV000257945.5
Variation ID:
257945
Description:
single nucleotide variant
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NM_001277115.2(DNAH11):c.9925-7T>C

Allele ID
252739
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p15.3
Genomic location
7: 21789234 (GRCh38) GRCh38 UCSC
7: 21828852 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.21828852T>C
NC_000007.14:g.21789234T>C
NG_012886.2:g.251020T>C
NM_001277115.2:c.9925-7T>C MANE Select
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:21789233:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (C)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00013
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Exome Aggregation Consortium (ExAC) 0.00020
1000 Genomes Project 0.00100
The Genome Aggregation Database (gnomAD) 0.00016
Trans-Omics for Precision Medicine (TOPMed) 0.00019
Links
ClinGen: CA4182175
dbSNP: rs146815254
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 - RCV000253709.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jan 22, 2020 RCV000280039.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DNAH11 - - GRCh38
GRCh37
1768 1867

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: SCV000307611.1
Submitted: (Apr 28, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Primary Ciliary Dyskinesia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000468187.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jan 22, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000750610.4
Submitted: (Jan 07, 2021)
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 rs146815254...

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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 Sep 29, 2021