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NM_001277115.2(DNAH11):c.576A>G (p.Ile192Met)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 3, 2021)
Last evaluated:
Nov 7, 2020
Accession:
VCV000163094.7
Variation ID:
163094
Description:
single nucleotide variant
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NM_001277115.2(DNAH11):c.576A>G (p.Ile192Met)

Allele ID
174189
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p15.3
Genomic location
7: 21558882 (GRCh38) GRCh38 UCSC
7: 21598500 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.21598500A>G
NC_000007.14:g.21558882A>G
NG_012886.2:g.20668A>G
NM_001277115.2:c.576A>G MANE Select NP_001264044.1:p.Ile192Met missense
Protein change
I192M
Other names
-
Canonical SPDI
NC_000007.14:21558881:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.03774 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00390
The Genome Aggregation Database (gnomAD) 0.00681
Trans-Omics for Precision Medicine (TOPMed) 0.01038
The Genome Aggregation Database (gnomAD), exomes 0.02559
Exome Aggregation Consortium (ExAC) 0.03557
1000 Genomes Project 0.03774
Links
dbSNP: rs72655972
ClinGen: CA175700
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Jun 27, 2014 RCV000150425.4
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Nov 7, 2020 RCV000259236.7
Benign 1 criteria provided, single submitter Jan 16, 2019 RCV001705969.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DNAH11 - - GRCh38
GRCh37
1769 1868

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 27, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000228957.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://www.ncbi.nlm.nih.gov/vari…
Benign
(Feb 21, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000197605.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Ile192Met in exon 3 of DNAH11: This variant is not expected to have clinical sig nificance because it has been identified in 7.3% (13/178) of … (more)
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000307542.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Primary Ciliary Dyskinesia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000468035.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Nov 07, 2020)
criteria provided, single submitter
Method: clinical testing
Primary ciliary dyskinesia
Allele origin: germline
Invitae
Accession: SCV000561953.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jan 16, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001829391.1
Submitted: (Sep 03, 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.

Text-mined citations for rs72655972...

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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