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NM_012472.6(DNAAF11):c.1245A>G (p.Lys415=)

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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:
Nov 13, 2020
Accession:
VCV000260271.5
Variation ID:
260271
Description:
single nucleotide variant
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NM_012472.6(DNAAF11):c.1245A>G (p.Lys415=)

Allele ID
253034
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q24.22
Genomic location
8: 132572462 (GRCh38) GRCh38 UCSC
8: 133584710 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.133584710T>C
NC_000008.11:g.132572462T>C
NM_012472.6:c.1245A>G MANE Select NP_036604.2:p.Lys415= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000008.11:132572461:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00053
The Genome Aggregation Database (gnomAD) 0.00025
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00062
Exome Aggregation Consortium (ExAC) 0.00089
The Genome Aggregation Database (gnomAD), exomes 0.00125
Links
ClinGen: CA4881092
dbSNP: rs149631064
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 - RCV000247518.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 13, 2020 RCV000526419.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DNAAF11 - - GRCh38
GRCh37
116 167

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: SCV000311949.1
Submitted: (Apr 28, 2016)
Evidence details
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia, primary, 19
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000471977.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Nov 13, 2020)
criteria provided, single submitter
Method: clinical testing
Ciliary dyskinesia, primary, 19
Allele origin: germline
Invitae
Accession: SCV000652497.4
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 rs149631064...

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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 Jun 23, 2021