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_012472.6(DNAAF11):c.574C>T (p.Gln192Ter)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Mar 28, 2019)
Last evaluated:
Nov 2, 2018
Accession:
VCV000039795.2
Variation ID:
39795
Description:
single nucleotide variant
Help

NM_012472.6(DNAAF11):c.574C>T (p.Gln192Ter)

Allele ID
48394
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q24.22
Genomic location
8: 132632819 (GRCh38) GRCh38 UCSC
8: 133645065 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.133645065G>A
NC_000008.11:g.132632819G>A
NM_012472.6:c.574C>T MANE Select NP_036604.2:p.Gln192Ter nonsense
... more HGVS
Protein change
Q192*, Q110*, Q72*
Other names
-
Canonical SPDI
NC_000008.11:132632818:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA343815
OMIM: 614930.0002
dbSNP: rs141945265
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, single submitter Nov 2, 2018 RCV000033017.7
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DNAAF11 - - GRCh38
GRCh37
128 179

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 02, 2018)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia, primary, 19
Allele origin: germline
Invitae
Accession: SCV000836236.2
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Gln192*) in the LRRC6 gene. It is expected to result in an absent or disrupted protein … (more)
pathologic
(Sep 15, 2011)
no assertion criteria provided
Method: curation
Primary Ciliary Dyskinesia
Allele origin: not provided
GeneReviews
Accession: SCV000086956.1
Submitted: (Apr 30, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Nov 02, 2012)
no assertion criteria provided
Method: literature only
CILIARY DYSKINESIA, PRIMARY, 19
Allele origin: germline
OMIM
Accession: SCV000056797.3
Submitted: (Nov 16, 2012)
Evidence details
Publications
PubMed (1)

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
Title Author Journal Year Link
Primary Ciliary Dyskinesia Zariwala MA - 2019 PMID: 20301301
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. Kott E American journal of human genetics 2012 PMID: 23122589

Text-mined citations for rs141945265...

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 Feb 06, 2021