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.6546G>C (p.Lys2182Asn)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 19, 2018)
Last evaluated:
Oct 2, 2017
Accession:
VCV000283898.1
Variation ID:
283898
Description:
single nucleotide variant
Help

NM_001277115.2(DNAH11):c.6546G>C (p.Lys2182Asn)

Allele ID
268135
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p15.3
Genomic location
7: 21705537 (GRCh38) GRCh38 UCSC
7: 21745155 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.21745155G>C
NC_000007.14:g.21705537G>C
NM_001277115.2:c.6546G>C MANE Select NP_001264044.1:p.Lys2182Asn missense
NG_012886.2:g.167323G>C
Protein change
K2182N
Other names
-
Canonical SPDI
NC_000007.14:21705536:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10604619
dbSNP: rs886042733
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Oct 2, 2017 RCV000392062.2
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
Likely pathogenic
(Oct 02, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000336268.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DNAH11 - - - -

Text-mined citations for rs886042733...

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 Oct 30, 2020