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.576dup (p.Glu193fs)

Help
Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Apr 30, 2013)
Last evaluated:
Nov 2, 2012
Accession:
VCV000039796.1
Variation ID:
39796
Description:
1bp duplication
Help

NM_012472.6(DNAAF11):c.576dup (p.Glu193fs)

Allele ID
48395
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
8q24.22
Genomic location
8: 132632816-132632817 (GRCh38) GRCh38 UCSC
8: 133645062-133645063 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.133645064dup
NC_000008.11:g.132632818dup
NM_012472.6:c.576dup MANE Select NP_036604.2:p.Glu193fs frameshift
... more HGVS
Protein change
E111fs, E73fs, E193fs
Other names
-
Canonical SPDI
NC_000008.11:132632816:TT:TTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs397515425
ClinGen: CA343817
OMIM: 614930.0003
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 no assertion criteria provided Nov 2, 2012 RCV000033018.4
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
pathologic
(Sep 15, 2011)
no assertion criteria provided
Method: curation
Primary Ciliary Dyskinesia
Allele origin: not provided
GeneReviews
Accession: SCV000086957.1
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: SCV000056798.2
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
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 rs397515425...

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