Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001277115.2(DNAH11):c.6302A>G (p.Asn2101Ser)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 16, 2020
Accession:
VCV000238928.6
Variation ID:
238928
Description:
single nucleotide variant
Help

NM_001277115.2(DNAH11):c.6302A>G (p.Asn2101Ser)

Allele ID
240049
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p15.3
Genomic location
7: 21704462 (GRCh38) GRCh38 UCSC
7: 21744080 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.21744080A>G
NC_000007.14:g.21704462A>G
NG_012886.2:g.166248A>G
NM_001277115.2:c.6302A>G MANE Select NP_001264044.1:p.Asn2101Ser missense
Protein change
N2101S
Other names
-
Canonical SPDI
NC_000007.14:21704461:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00160 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00048
The Genome Aggregation Database (gnomAD), exomes 0.00051
Exome Aggregation Consortium (ExAC) 0.00058
Trans-Omics for Precision Medicine (TOPMed) 0.00036
1000 Genomes Project 0.00160
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00041
Links
ClinGen: CA4180777
dbSNP: rs201618995
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter May 30, 2018 RCV000657850.3
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 16, 2020 RCV000229432.7
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DNAH11 - - GRCh38
GRCh37
1769 1868

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Primary Ciliary Dyskinesia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000468128.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Nov 16, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000287017.6
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(May 30, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000779607.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The N2101S variant in the DNAH11 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The … (more)

Functional evidence

Help
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

Help
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 rs201618995...

Help
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